Rajesh Thakker

Q: What Schools Are Affiliated With Rajesh Thakker

Rajesh Thakker is affiliated with the following schools: Queen's University Belfast, Imperial College London, University of Oxford

Rajesh Thakker's AcademicInfluence.com Rankings

Rajesh Thakker

Philosophy

#4397

World Rank

#6892

Historical Rank

Logic

#2074

World Rank

#2978

Historical Rank

philosophy Degrees

Download Badge

Philosophy

Why Is Rajesh Thakker Influential?

(Suggest an Edit or Addition)

According to Wikipedia, Rajesh Vasantlal Thakker is May Professor of Medicine in the Nuffield Department of Clinical Medicine at the University of Oxford and a fellow of Somerville College, Oxford. Thakker is also a Consultant physician at the Churchill Hospital and the John Radcliffe Hospital, Principal investigator at the Oxford Centre for Diabetes, Endocrinology and Metabolism and was Chairman of the NIHR/MRC Efficacy and Mechanism Evaluation Board until Spring 2016.

(See a Problem?)

Rajesh Thakker's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2 (2001) (1576)
Gastroenteropancreatic neuroendocrine tumours. (2008) (1504)
Guidelines for diagnosis and therapy of MEN type 1 and type 2. (2001) (1038)
Guidelines for the management of thyroid cancer (2014) (987)
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). (2012) (986)
Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism (2009) (802)
Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) (2005) (791)
A common molecular basis for three inherited kidney stone diseases (1996) (696)
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome (2002) (658)
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. (1996) (562)
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. (1997) (554)
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene (2008) (542)
GATA3 haplo-insufficiency causes human HDR syndrome (2000) (537)
Clinical studies of multiple endocrine neoplasia type 1 (MEN1) (1996) (454)
Characterization of mutations in patients with multiple endocrine neoplasia type 1. (1998) (426)
Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (2005) (402)
Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11. (1989) (340)
Primary hyperparathyroidism: review and recommendations on evaluation, diagnosis, and management. A Canadian and international consensus (2016) (337)
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders (2015) (319)
Multiple endocrine neoplasia type 1 (1999) (317)
Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4) (2014) (299)
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. (2013) (296)
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. (2000) (293)
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. (1999) (271)
Genome-Wide Association Study Using Extreme Truncate Selection Identifies Novel Genes Affecting Bone Mineral Density and Fracture Risk (2011) (262)
Genetic Contribution to Bone Metabolism, Calcium Excretion, and Vitamin D and Parathyroid Hormone Regulation (2001) (259)
Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. (1995) (248)
Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. (2014) (243)
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3 (2012) (234)
Multiple Endocrine Neoplasia (2001) (227)
Glomerular protein sieving and implications for renal failure in Fanconi syndrome. (2001) (226)
Presentation of Hypoparathyroidism: Etiologies and Clinical Features. (2016) (223)
Genetic disorders of renal electrolyte transport. (1999) (222)
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. (1997) (218)
Multiple endocrine neoplasia type 1 (MEN1). (2010) (218)
Molecular genetic studies of sporadic pituitary tumors. (1994) (208)
Epidemiology and Diagnosis of Hypoparathyroidism. (2016) (198)
Allelic deletion in pituitary adenomas reflects aggressive biological activity and has potential value as a prognostic marker. (1997) (196)
A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism (1992) (192)
Familial combined hyperlipidaemia linked to the apolipoprotein AI–CIII–AIV gene cluster on chromosome 11q23q–q24 (1991) (191)
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. (1997) (188)
Management of Hypoparathyroidism: Summary Statement and Guidelines. (2016) (177)
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. (1996) (176)
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases (2018) (170)
Multiple endocrine neoplasia--syndromes of the twentieth century. (1998) (168)
Diseases associated with the extracellular calcium-sensing receptor. (2004) (162)
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. (1992) (162)
Genetics of neuroendocrine and carcinoid tumours. (2003) (158)
Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). (1994) (157)
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism‐jaw tumor syndrome (HPT‐JT) and parathyroid tumors (2010) (156)
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. (2012) (155)
Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome* (2002) (155)
Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 ( MEN 1 ) (2012) (152)
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. (1997) (149)
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). (1995) (148)
Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations. (1993) (148)
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). (1997) (147)
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism‐jaw tumour syndrome (2005) (139)
Dent's disease (2010) (138)
Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort (2014) (138)
Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. (1999) (137)
Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis (2016) (132)
Mutational analysis of PHEX gene in X-linked hypophosphatemia. (1998) (128)
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. (2006) (127)
Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. (2004) (127)
Evidence for the Role of Megalin in Renal Uptake of Transthyretin* (2000) (126)
Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas. (2012) (122)
Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. (2002) (120)
Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism. (2013) (115)
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. (2005) (114)
Genetic contribution to renal function and electrolyte balance: a twin study. (2002) (111)
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours (2006) (109)
Loss of heterozygosity studies at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumours (1996) (109)
Genetic causes of hypercalciuric nephrolithiasis (2008) (105)
Anatomic and functional imaging of metastatic carcinoid tumors. (2007) (105)
Menin interacts directly with the homeobox-containing protein Pem. (2001) (104)
Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases. (2000) (103)
Parafibromin, a Component of the Human PAF Complex, Regulates Growth Factors and Is Required for Embryonic Development and Survival in Adult Mice (2008) (103)
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. (2009) (103)
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (2003) (102)
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. (1993) (102)
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. (2000) (101)
Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2. (2010) (101)
Mutant prolactin receptor and familial hyperprolactinemia. (2013) (101)
Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis. (2001) (99)
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). (2005) (99)
GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders (2014) (96)
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy (2004) (92)
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. (2002) (90)
The Human Acute‐Phase Serum Amyloid A Gene Family: Structure, Evolution and Expression in Hepatoma Cells (1991) (88)
Genetics of parathyroid tumours (2016) (87)
Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia (2009) (86)
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. (1993) (86)
OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability (2009) (86)
Oral presentations (2010) (85)
Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients. (2003) (85)
Calcium‐sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis (1996) (84)
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease (2016) (81)
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. (1997) (78)
GNAS1 mutational analysis in pseudohypoparathyroidism (1998) (78)
Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors. (2009) (77)
Whole-exome sequencing studies of nonfunctioning pituitary adenomas. (2013) (77)
Parafibromin – functional insights (2009) (77)
Challenges and controversies in management of pancreatic neuroendocrine tumours in patients with MEN1. (2015) (76)
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism (2003) (76)
The ClC‐5 Knockout Mouse Model of Dent's Disease Has Renal Hypercalciuria and Increased Bone Turnover (2003) (74)
Genetics of Bone Biology and Skeletal Disease (2012) (73)
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients (2013) (73)
Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria. (2000) (73)
Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion. (2015) (73)
Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene (2008) (72)
Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. (1990) (72)
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1) (2010) (71)
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease. (1998) (71)
Structure and methylation of the human calcitonin/α-CGRP gene (1989) (69)
Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. (2007) (69)
Molecular genetics of syndromic and non‐syndromic forms of parathyroid carcinoma (2017) (69)
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects (2015) (68)
Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice. (2011) (67)
The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. (2001) (67)
Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: Evidence from in‐situ synchrotron X‐ray scattering and backscattered electron imaging (2012) (66)
Genomic profiling reveals mutational landscape in parathyroid carcinomas. (2017) (65)
Hypercalcemic Disorders in Children (2017) (64)
Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approach. (2006) (64)
Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy (2017) (63)
Expression and cloning of the human X-linked hypophosphatemia gene cDNA. (1997) (62)
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. (2005) (62)
Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36. (1997) (61)
Metastatic parathyroid carcinoma in the MEN2A syndrome (1997) (61)
Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours (1999) (60)
Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus (2018) (60)
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. (2004) (59)
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease (2009) (59)
Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases (2019) (59)
Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages (2010) (59)
A homozygous inactivating calcium‐sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia (2010) (57)
The calcium-sensing receptor: insights into extracellular calcium homeostasis in health and disease. (1997) (57)
The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1) (2015) (57)
Studies of the Murine Homolog of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene, men1 (1999) (57)
Bridging markers defining the map position of X linked hypophosphataemic rickets. (1987) (56)
Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal (2007) (56)
Localization of gastrinomas by selective intra‐arterial calcium injection (2002) (55)
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship. (2003) (54)
Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions (2002) (54)
Multiple endocrine neoplasia type 1 (MEN1). (1994) (54)
AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity (2018) (52)
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease. (2000) (51)
Characterization of carrier females and affected males with X-linked recessive nephrolithiasis (1996) (51)
Multiple endocrine neoplasia type 1. (2000) (50)
Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density (2006) (49)
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure (2008) (49)
Association between genotype and phenotype in uromodulin-associated kidney disease. (2013) (48)
The molecular genetics of the multiple endocrine neoplasia syndromes (1993) (48)
Genetics of Endocrine and Metabolic Disorders: Parathyroid (2004) (48)
Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22. (1993) (47)
X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. (2001) (47)
Mapping the Gene Causing Hereditary Primary Hyperparathyroidism in a Portuguese Kindred to Chromosome 1q22‐q31 (1999) (46)
Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. (2000) (45)
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism (2005) (45)
Disorders of the calcium-sensing receptor. (1998) (45)
Multiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosis (2016) (44)
A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. (2010) (44)
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. (2002) (43)
Genetics of kidney stone disease (2020) (43)
Quantitative trait loci for hypercalciuria in a rat model of kidney stone disease. (2003) (43)
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. (2010) (43)
Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers. (2009) (43)
Current and emerging therapies for PNETs in patients with or without MEN1 (2018) (42)
Multiple Endocrine Neoplasia Type 1: Latest Insights. (2020) (42)
Transcription factors in parathyroid development: lessons from hypoparathyroid disorders (2011) (42)
CDC73 Intragenic Deletion in Familial Primary Hyperparathyroidism Associated With Parathyroid Carcinoma (2014) (41)
Genetic variants of calcium and vitamin D metabolism in kidney stone disease (2019) (41)
Medial Arterial Calcification: JACC State-of-the-Art Review. (2021) (41)
Molecular and functional characterization of the extracellular calcium-sensing receptor in human colon cancer cells. (2003) (40)
Novel DAX1 mutations in X‐linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism (1999) (40)
International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function (2020) (40)
Unravelling of the molecular mechanisms of kidney stones (1996) (39)
mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. (1997) (38)
Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) (2016) (38)
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations. (2016) (38)
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3. (2010) (38)
Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1. (2008) (38)
Epigenetic pathway inhibitors represent potential drugs for treating pancreatic and bronchial neuroendocrine tumors (2017) (36)
Multiple Endocrine Neoplasia Type 1 and the Pancreas: Diagnosis and Treatment of Functioning and Non-Functioning Pancreatic and Duodenal Neuroendocrine Neoplasia within the MEN1 Syndrome – An International Consensus Statement (2020) (36)
A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) (2016) (36)
Chromosomal aberrations in sporadic pituitary tumors (2001) (36)
Genetics of Hypercalciuric Nephrolithiasis (2007) (36)
Corrigendum: Clinical studies of multiple endocrine neoplasia type 1 (MEN1) (Q J Med (1996) 89 (653-659)) (1996) (35)
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα11 Mutation (2017) (35)
Genetic developments in Hypoparathyroidism (2001) (35)
Further delineation of Malan syndrome (2018) (35)
Phase II study of single agent capecitabine in the treatment of metastatic non-pancreatic neuroendocrine tumours (2011) (35)
Investigating hypocalcaemia (2013) (35)
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. (2009) (34)
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population (2020) (34)
GATA3 Mutations Found in Breast Cancers May Be Associated with Aberrant Nuclear Localization, Reduced Transactivation and Cell Invasiveness (2013) (34)
MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas. (2012) (34)
miR‐135b‐ and miR‐146b‐dependent silencing of calcium‐sensing receptor expression in colorectal tumors (2016) (34)
Embolisation of gastroduodenal artery aneurysm caused by chronic pancreatitis. (1983) (33)
A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress (2017) (33)
Calcimimetic and calcilytic therapies for inherited disorders of the calcium‐sensing receptor signalling pathway (2018) (32)
Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders* (2016) (32)
MANAGEMENT OF ENDOCRINE DISEASE: Unmet therapeutic, educational and scientific needs in parathyroid disorders. (2019) (32)
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin–biased signaling (2018) (32)
Prolactinoma presenting in identical twins with multiple endocrine neoplasia type 1 (1996) (31)
Multiple endocrine neoplasia. (2001) (31)
Renal Chloride Channel, CLCN5, Mutations in Dent's Disease (1999) (31)
Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH (1995) (31)
Mouse models for inherited endocrine and metabolic disorders. (2011) (31)
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation (2012) (31)
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis (1986) (31)
Absence of mutations in the growth hormone (GH)‐releasing hormone receptor gene in GH‐secreting pituitary adenomas (2001) (30)
Asymmetric activation of the calcium-sensing receptor homodimer (2021) (30)
An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess (2013) (30)
Molecular Pathology of Renal Chloride Channels in Dent’s Disease andBartter’ s Syndrome (2000) (30)
Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent’s Disease (2009) (30)
A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis (2012) (30)
Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5 (2013) (30)
Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5. (2004) (29)
Linkage analysis of 7 polymorphic markers at chromosome 11p11. 2‐11q13 in 27 multiple endocrine neoplasia type 1 families (1993) (29)
Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy (2017) (29)
Hormonal regulation of biomineralization (2021) (29)
Localization of the Tamm‐Horsfall glycoprotein (unomodulin) gene to chromosome 16p12.3‐16p13.11 (1993) (29)
SEDLIN Forms Homodimers: Characterisation of SEDLIN Mutations and Their Interactions with Transcription Factors MBP1, PITX1 and SF1 (2010) (29)
Circulating concentrations of 1,25-dihydroxyvitamin D3 in patients with primary hyperparathyroidism. (1986) (28)
Rickets and osteomalacia (2001) (28)
Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors. (2017) (28)
Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families. (1990) (27)
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors (2020) (27)
Chloride channels cough up (1997) (27)
Pasireotide Therapy of Multiple Endocrine Neoplasia Type 1–Associated Neuroendocrine Tumors in Female Mice Deleted for an Men1 Allele Improves Survival and Reduces Tumor Progression (2016) (26)
Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. (1997) (26)
Confusing genes: a patient with MEN2A and Cushing's disease (2013) (26)
Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome (2006) (25)
Evaluation and Management of Primary Hyperparathyroidism: Summary Statement and Guidelines from the Fifth International Workshop (2022) (25)
Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. (2003) (25)
Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland (2016) (25)
Calcium-sensing receptor: Role in health and disease (2012) (25)
Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome (2017) (25)
The role of biomineralization in disorders of skeletal development and tooth formation (2021) (24)
Unmet therapeutic, educational and scientific needs in parathyroid disorders: Consensus Statement from the first European Society of Endocrinology Workshop (PARAT) (2019) (24)
Erratum: Diagnosis of asymptomatic primary hyperparathyroidism: Proceedings of the fourth international workshop (Journal of Clinical Endocrinology & Metabolism (2014) 99 (3570-3579) DOI: 10.1210/jc.2014-1414) (2015) (24)
Clinical features of X-linked nephrolithiasis in childhood (1998) (24)
Epidemiology of Uromodulin-Associated Kidney Disease – Results from a Nation-Wide Survey (2012) (23)
Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21 (2010) (23)
A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis. (2005) (23)
Dent's disease. (2005) (23)
Role of Ca2+ and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations (2014) (23)
Symmetrically reduced stiffness and increased extensibility in compression and tension at the mineralized fibrillar level in rachitic bone. (2013) (23)
7 Inherited forms of rickets and osteomalacia (1988) (22)
A Family with Autosomal Dominant Hypocalcaemia with Hypercalciuria (ADHH): Mutational Analysis, Phenotypic Variability and Treatment Challenges (2005) (22)
Genetic approaches to metabolic bone diseases (2018) (22)
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. (1998) (22)
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. (2001) (21)
Expression and chromosomal localization of the Requiem gene (1998) (21)
Structure and methylation of the human calcitonin/alpha-CGRP gene. (1989) (20)
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias (2018) (20)
N-ethyl-N-Nitrosourea (ENU) Induced Mutations within the Klotho Gene Lead to Ectopic Calcification and Reduced Lifespan in Mouse Models (2015) (20)
Determination of a molecular map position for Hyp using a new interspecific backcross produced by in vitro fertilization. (1991) (20)
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). (2014) (20)
The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. (1998) (20)
Bone matrix development in steroid-induced osteoporosis is associated with a consistently reduced fibrillar stiffness linked to altered bone mineral quality (2018) (20)
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. (2000) (20)
Lymphatic vessels are present in phosphaturic mesenchymal tumours (2007) (19)
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause (2021) (19)
Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism (1993) (19)
Animal models of pituitary neoplasia (2016) (18)
A Novel Role for GATA3 in Mesangial Cells in Glomerular Development and Injury. (2019) (18)
Clinical academic medicine: the way forward. (2004) (18)
Association of prolactin receptor (PRLR) variants with prolactinomas (2018) (18)
Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX. (1997) (17)
Molecular Genetic Studies of Pancreatic Neuroendocrine Tumors: New Therapeutic Approaches. (2018) (17)
Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1) (1997) (17)
Proliferation rates of multiple endocrine neoplasia type 1 (MEN1)-associated tumors. (2012) (17)
Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphisms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients (2015) (17)
10 Multiple endocrine neoplasia (1988) (17)
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3 (2010) (16)
Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway (2016) (16)
Inherited forms of rickets and osteomalacia. (1988) (16)
MMP 13 mutation causes spondyloepimetaphyseal dysplasia , Missouri type ( SEMDMO ) (2005) (16)
Anthropometric measurements in patients with growth hormone deficiency before treatment with human growth hormone (1980) (15)
miR-15a/miR-16-1 expression inversely correlates with cyclin D1 levels in Men1 pituitary NETs (2018) (15)
X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. (2004) (15)
A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene (1999) (15)
N‐ethyl‐N‐nitrosourea–Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss‐of‐Function Mice (2017) (14)
Neonatal primary hyperparathyroidism masked by vitamin D deficiency (1994) (14)
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling (2018) (14)
The role of molecular genetics in screening for multiple endocrine neoplasia type 1. (1994) (14)
Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly (2020) (13)
Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease (2017) (13)
The calcium-sensing receptor: And its involvement in parathyroid pathology. (2015) (13)
A MEN1 pancreatic neuroendocrine tumour mouse model under temporal control (2017) (12)
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations (2020) (12)
Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation (2017) (12)
Kidney Stones: A Fetal Origins Hypothesis (2013) (11)
Molecular genetics of disorders of calcium homeostasis. (1995) (11)
Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development☆☆☆ (2012) (11)
A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1 (2007) (11)
X-Linked Nephrolithiasis/Dent’s Disease and Mutations in the ClC-5 Chloride Channel (2000) (10)
Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1 (2002) (10)
Familial and Hereditary Forms of Primary Hyperparathyroidism (2015) (10)
Linkage Studies of a Missouri Kindred with Autosomal Dominant Spondyloepimetaphyseal Dysplasia (SEMD) Indicate Genetic Heterogeneity (1997) (10)
CHAPTER 49 – The Molecular Genetics of Hypoparathyroidism (2001) (10)
Regulation of sclerostin in glucocorticoid-induced osteoporosis (GIO) in mice and humans (2019) (10)
AUTOSOMAL-DOMINANT HYPOCALCEMIA ASSOCIATED WITH A MUTATION IN THE CALCIUM-SENSING RECEPTOR (1995) (10)
The hyperparathyroidism-jaw tumour (HPT-JT) syndrome (2006) (10)
ENDOCRINOLOGY IN THE TIME OF COVID-19: Clinical management of neuroendocrine neoplasms (NENs) (2020) (10)
Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1). (1996) (9)
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation (2016) (9)
Age-dependent changes in protein incorporation into collagen-rich tissues of mice by in vivo pulsed SILAC labelling (2021) (9)
Skeletal and extraskeletal disorders of biomineralization (2022) (9)
Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism (2022) (9)
What is the appropriate management of nonfunctioning pancreatic neuroendocrine tumours disclosed on screening in adult patients with multiple endocrine neoplasia type 1? (2019) (9)
Meta-analysis of 31 studies reporting 344 mutations in the multiple endocrine neoplasia type 1 (MEN1) gene. (1999) (8)
Expression profiling of colorectal cancer cells reveals inhibition of DNA replication licensing by extracellular calcium☆ (2017) (8)
Genetic Disorders of Calcium and Phosphate Homeostasis (2008) (8)
Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1) (1997) (8)
Molecular Basis of PTH Underexpression (2002) (8)
Reduction of fibrillar strain-rate sensitivity in steroid-induced osteoporosis linked to changes in mineralized fibrillar nanostructure. (2019) (8)
A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation (2012) (8)
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes. (2020) (7)
HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: MEN1-related pancreatic NETs: identification of unmet clinical needs and future directives (2020) (7)
1. Multiple Endocrine Neoplasia Type 1 (2011) (7)
Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1 (2004) (7)
Bone Mineral Content and Density. (2012) (7)
Molecular Genetics of Endocrine Disorders (1998) (7)
Molecular genetic advances in pituitary tumor development (2015) (7)
MANAGEMENT OF ENDOCRINE DISEASE: Postsurgical hypoparathyroidism: current treatments and future prospects for parathyroid allotransplantation (2021) (7)
Bone disordersRickets and osteomalacia (2009) (7)
Chloride channels in renal disease. (1999) (7)
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2 (2021) (6)
Molecular genetic mapping of the multiple endocrine neoplasia type 1 locus. (1992) (6)
Preclinical drug studies in MEN1-related neuroendocrine neoplasms (MEN1-NENs). (2020) (6)
Mutational analysis of the GNAS1 gene in pseudohypoparathyroidism. (1996) (6)
Parathyroid disorders and diseases altering calcium metabolism (2010) (6)
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression (2020) (6)
Characterisation of 25 calcium-sensing receptor mutations in disorders of calcium homeostasis (2007) (6)
Cox-2 promotes chromogranin A expression and bioactivity: evidence for a prostaglandin E2-dependent mechanism and the involvement of a proximal cyclic adenosine 5'-monophosphate-responsive element. (2007) (6)
Hormonal regulation of mammary gland development and lactation (2022) (6)
Molecular genetics and patient management of multiple endocrine neoplasia type 1 (2001) (6)
Developments for funding clinical research in the UK (2008) (6)
Effects of epigenetic pathway inhibitors on corticotroph tumour AtT20 cells (2020) (6)
Familial States of Primary Hyperparathyroidism (2018) (5)
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2 (2019) (5)
Molecular genetics of parathyroid disease (1996) (5)
Genetic background influences tumour development in heterozygous Men1 knockout mice (2020) (5)
Mapping of the gene encoding the B56β subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (MEN1) (1997) (5)
Control of PTH secretion by the TRPC1 ion channel (2020) (5)
Jeffrey Lima Hayes O'Riordan: March 27, 1931 – October 9, 2017 (2017) (5)
MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES (1989) (5)
Genetic linkage studies of X‐linked hypophosphataemic rickets in a Saudi Arabian family (1992) (5)
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1) (2020) (5)
Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes. (2021) (5)
Is there a future for academic medicine in the UK? (2005) (5)
Chapter 148 – Multiple Endocrine Neoplasia Type 1 (2016) (5)
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1. (2021) (5)
A putative human zinc-finger gene (ZFPL1) on 11q13, highly conserved in the mouse and expressed in exocrine pancreas. The European Consortium on MEN 1. (1998) (4)
The molecular basis of parathyroid tumours in multiple endocrine neoplasia type 1 (1990) (4)
TUMOR-INDUCED OSTEOMALACIA: A COMPREHENSIVE REVIEW. (2022) (4)
Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene (2015) (4)
HDR Syndrome – A Follow-up Genotype-Phenotype Analysis of a de novo Missense Thr272Ile Mutation in Exon 4 of GATA3 (2012) (4)
Matrix metalloproteinase 13 (MMP13) mutation causes spondyloepimetaphyseal dysplasia (SEMD), Missouri variant (2003) (4)
A Mouse with a Ser1386Pro Mutation in the C-propeptide Domain of col2aI Provides a Model for Spondyloepiphyseal Dysplasia Congenita (2008) (4)
An activating calcium sensing receptor mutation associated with normocalcemic (idiopathic) hypercalciuric nephrolithiasis. (2002) (4)
A calcium-sensing receptor (CaSR) variant, Glu250Lys, present in familial hypocalciuric hypercalcaemia (FHH) and autosomal dominant hypocalcaemic hypercalciuria (ADHH) probands represents a functionally neutral polymorphism: lessons for CaSR mutational analysis (2012) (4)
Aberrant methylation underlies insulin gene expression in human insulinoma (2020) (4)
Hypoparathyroidism: Genetics and Diagnosis (2022) (4)
Genetics of monogenic disorders of calcium and bone metabolism (2021) (4)
Hypoparathyroidism and pseudohypoparathyroidism. (2012) (4)
MEN1-related PanNETs: identifying unmet clinical needs and future directives. (2020) (4)
Fragmentation of filtered proteins and implications for glomerular protein sieving in Fanconi syndrome. (2002) (4)
WATER-EXCRETION ON DRINKING LARGE VOLUMES OF WATER OR ISOTONIC SALINE (1980) (4)
Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11g13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene (1996) (4)
Hereditary hypophosphataemic rickets: Role for a fibroblast growth factor, FGF23 (2001) (4)
Role of chromosome 11 in hereditary and sporadic pituitary tumourigenesis (1996) (4)
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant (2020) (4)
Regulation of Calcium Homeostasis and Genetic Disorders that Affect Calcium Metabolism∗∗Chapter titles shaded in green indicate chapters dedicated predominantly to pediatric endocrinology conten (2016) (4)
Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model (2020) (3)
Introduction to Genetics of Skeletal and Mineral Metabolic Diseases (2017) (3)
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism (2020) (3)
Gene mapping of mineral metabolic disorders (1989) (3)
LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY (1993) (3)
Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis. (1996) (3)
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 exert dominant-negative effects (2014) (3)
CHAPTER 20 – Parathyroid Disorders (2003) (3)
ROLE OF A VOLTAGE-GATED CHLORIDE-CHANNEL GENE CLC-5 IN HUMAN AND RAT HYPERCALCIURIA (1995) (3)
Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis (2019) (3)
1,25-dihydroxy vitamin D in primary hyperparathyroidism (1984) (3)
Molecular genetics of mineral metabolic disorders (1992) (3)
CHROMOSOME-11 ABNORMALITIES IN SOMATOTROPHINOMAS FROM PATIENTS WITH ACROMEGALY (1991) (2)
In memoriam: Oliver M. Wrong. (2012) (2)
A Donor Splice Site Mutation in the Parathyroid Hormone Gene Causes Hypoparathyroidism (1992) (2)
Mutations of the PEX regulatory and C-terminal regions cause X-linked hypophosphataemia. (1997) (2)
Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus (2020) (2)
Physiology of the developing kidney: Disorders and therapy of calcium and phosphorous homeostasis (2015) (2)
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing (2022) (2)
A mouse with a Trp589Arg mutation in N-acetylgalactosaminyltransferase 3 (Galnt3) provides a model for familial tumoural calcinosis (2009) (2)
MOLECULAR-GENETIC ANALYSIS OF THE MOUSE X-LINKED HYPOPHOSPHATEMIA LOCUS BY USE OF AN INTERSPECIFIC BACKCROSS AND LINKING CLONES (1992) (2)
Genetics of Bone Biology and Skeletal Disease: Second Edition (2017) (2)
TWO SYNCHRONOUS PITUITARY ADENOMAS CAUSING CUSHING DISEASE AND ACROMEGALY. (2019) (2)
Meeting report from the 24th annual meeting of the American society for bone and mineral research (2002) (2)
Familial benign hypercalcaemia, Oklahoma variant (FBHok): Localisation to chromosome 19q13. (1997) (2)
Mice deleted for a Multiple Endocrine Neoplasia Type 1 (MEN1) allele develop pancreatic, pituitary and parathyroid tumours in association with hypercalcaemia (2007) (2)
An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice (2018) (2)
A legacy of tinnitus: multiple head and neck paragangliomas (2009) (2)
Calcium-sensing receptor in physiology and in calcitropic and non-calcitropic diseases (2019) (2)
Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets. (1996) (2)
LOCALIZATION OF THE GENE CAUSING X-LINKED HYPOPHOSPHATEMIC RICKETS (1986) (2)
Mouse Models: Approaches to Generating in vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis (2013) (2)
Genetic background influences expression of Multiple Endocrine Neoplasia type 1 (MEN1) mutation, implicating a role for genetic modifiers (2007) (2)
OR07-06 The Roles of GNAQ and GNA11 in Calcium-Sensing Receptor (CaSR) Signalling (2020) (1)
Mice deleted for the hyperparathyroidism-jaw tumour (HPT-JT) syndrome allele have abnormal parathyroids with increased proliferation rates (2009) (1)
Compound heterozygous AIRE-1 mutations causing autoimmune polyendocrinopathy syndrome type 1 (2004) (1)
Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia (2017) (1)
miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2 (2022) (1)
Approach to Nephrolithiasis (2013) (1)
Molecular genetics of hvDOchondroDlasia (1991) (1)
Hypocalcaemic Disorders, Hypoparathyroidism, and Pseudohypoparathyroidism (2021) (1)
Dent's disease--a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. (2004) (1)
Genetic abnormalities in carcinoid tumours (2003) (1)
Clinically relevant genetic advances in endocrinology. (2013) (1)
The somatostatin analogue pasireotide decreased proliferation and increased apoptosis in pancreatic and pituitary neuroendocrine tumors in a MEN1 mouse model (2015) (1)
Mapping quantitative trait loci for hypercalciuria in the genetic hypercalciuric stone-forming rat. (1997) (1)
Genetic analysis of the hypercalciuric rat, a model for human idiopathic hypercalciuria. (1996) (1)
The hyperparathyroidism-jaw tumour ( HPT-JT ) syndrome Mini-review (2006) (1)
MON-335 Phenocopy of Multiple Endocrine Neoplasia Type 1 (MEN1) Due to a Germline Cell Division Cycle 73 (CDC73) Variant (2019) (1)
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia (2020) (1)
The role of routine intravenous urography in patients with primary hyperparathyroidism. (1987) (1)
Disruption in fibrillar level fracture mechanisms in rachitic mice bone: Measured using in-situ cantilever bending with microfocus saxd (2012) (1)
EagI andNotI linking clones from human chromosomes 11 and Xp (1996) (1)
Genetic regulation of parathyroid gland development (2020) (1)
CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype (2021) (1)
A mutation in the 5'-UTR of GNA11 causes familial hypocalciuric hypercalcemia type 2 due to reduced translational efficiency (2014) (1)
Multiple Endocrine Neoplasia and Molecular Genetics (1993) (1)
Variation in a single nucleotide polymorphism in the 5'UTR of growth and differentiation factor-5 (GDF-5) predicts clinical outcome at 3 months following acute knee joint injury (2016) (1)
LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH (1995) (1)
Genetics of Skeletal Disorders. (2020) (1)
A novel homozygous inactivating mutation, Pro339Thr, of the calcium-sensing receptor is associated with isolated primary hyperparathyroidism (2007) (1)
Inhibition of human NET cell proliferation by a peptide identified through phage display screening (2014) (1)
Synchrotron Nano-Mechanical Imaging Techniques to Understand How Altered Bone Quality Increases Fracture Risk in Secondary Osteoporosis (2014) (1)
MOLECULAR-GENETIC MAPPING OF 13 MARKERS FROM CHROMOSOME-11Q13 IN 33 FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (1993) (1)
Contents Vol. 8, 2000 (2000) (1)
G[alpha]11-Phe220Ser loss-of-function mutation causes familial hypocalciuric hypercalcemia type-2 (FHH2) by disrupting a hydrophobic cluster critical for G-protein signaling (2017) (1)
A mouse model of early-onset renal failure, tertiary hyperparathyroidism and renal osteodystrophy (2010) (1)
Pituitary adenoma and phaeochromocytoma/paraganglioma [ndash] a novel syndrome with a heterogeneous genetic background (2013) (1)
SaO021A NOVEL ROLE FOR GATA3 IN MESANGIAL CELLS IN GLOMERULAR DEVELOPMENT AND INJURY (2015) (1)
LOCALIZATION OF A TUMOR-SUPPRESSOR GENE CAUSING PARATHYROID TUMORS TO CHROMOSOME-1P34-P36 (1995) (1)
Familial Hypocalciuric Hypercalcemia (FHH) caused by P748L mutation in the calcium sensing receptor (CaSR) gene (2006) (1)
AP2 mutations impair calcium-sensing receptor trafficking and signaling revealing an endosomal pathway that spatially directs G-protein selectivity (2018) (1)
Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures (2022) (1)
Comparative analysis of the bovine and human calcium-sensing receptors (1996) (1)
Mice harbouring a germline heterozygous AP2S1 mutation, Arg15Leu, are a model for familial hypocalciuric hypercalcaemia type 3 (FHH3) (2019) (1)
3 NEW DNA MARKERS FOR HYPOPHOSPHATEMIC RICKETS, AND POSSIBLE LOCUS HETEROGENEITY (1991) (1)
Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications (2022) (1)
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism (2022) (1)
carcinoid) tumours gastroenteropancreatic neuroendocrine (including Guidelines for the management of (2005) (1)
An N‐Ethyl‐N‐Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion (2018) (1)
Characterisation of the nuclear localisation signal (NLS) site of GATA3 (2009) (0)
Contents Vol. 112, 2009 (2009) (0)
Menin regulates the expression of miR-15a, which is downregulated and inversely correlates with cyclin D1 expression in mouse Men1-associated pituitary tumours (2015) (0)
Clinical and pre-clinical studies of neuroendocrine tumours (NETs) in multiple endocrine neoplasia type 1 (MEN1), and evaluation of MEN1 gene replacement therapy for MEN1-associated NETs. (2013) (0)
Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease (2022) (0)
Mutant prolactin receptor and familial hyperprolactinemia. (2014) (0)
Clinical and genetic studies of the hyperparathyroidism-jaw tumor syndrome (HPT-JT) in a kindred from Portugal. (1999) (0)
LINKAGE ANALYSIS OF 3 CLONED DNA-SEQUENCES, DXS294, CDR AND DXS105, IN X-LINKED RECESSIVE HYPOPARATHYROID FAMILIES (1991) (0)
Transient receptor potential cation channel, subfamily Vanilloid, member 5 (Trpv5) mutation (Ser682Pro) results in loss of apical membrane expression in the distal convoluted tubule, thereby resulting in hypercalciuria (2010) (0)
Chloride channel mutations in hypercalciuric kidney stone disease (1998) (0)
Parathyroid tumours harbour parafibromin somatic mutations, consistent with the Knudson 'two-hit' hypothesis (2003) (0)
CHROMOSOME-11 ABNORMALITIES IN PARATHYROID TUMORS OF PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-I (MENTI) (1989) (0)
Mice with a gain-of function G[alpha]11 mutation have autosomal dominant hypocalcaemia, but not impaired glucose metabolism (2019) (0)
Familial hypocalciuric hypercalcaemia type 3 is caused by mutations in adaptor protein 2 sigma 1 (2013) (0)
MON-468 Selective Inhibition of Epigenetic Pathways Has Anti-Proliferative and Pro-Apoptotic Effects on the Mouse Corticotroph Tumor Cells, AtT20 (2019) (0)
Multiple endocrine neoplasia type 1: Can we talk about day-to-day 'routine' patients? (2018) (0)
Disruption of the G-protein subunit [alpha]11 (G[alpha]11) interdomain interface causes autosomal dominant hypocalcemia type-2 (ADH2) (2017) (0)
P42. Familial hypoparathyroidism (1996) (0)
Genetic aspects of hypercalciuria (2005) (0)
X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene. (2000) (0)
Idiopathic (Normocalcaemic) hypercalciuric nephrolithiasis due to an activating calcium sensing receptor mutation (2003) (0)
A novel dominant-negative Glial Cells Missing B (GCMB) mutation (Asn502His) is associated with autosomal dominant hypoparathyroidism and results in reduced transactivation activity (2010) (0)
Role of mutation testing in clinical practice (2013) (0)
The calcium sensing receptor (2010) (0)
Characterisation of a novel GATA3 mutation in hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome (2009) (0)
Genetic models of pituitary disease in multiple endocrine neoplasia type 1 (MEN1) (2012) (0)
In vivo delivery of an adenoviral gene therapy vector to pituitary tumours in Men1 deficient mice (2008) (0)
The epigenetic modifying compound, JQ1+, increases apoptosis in pituitary tumours (2016) (0)
Anatomic and Func- tional Imaging of Metastatic Carcinoid (2007) (0)
Discovering gene function from development to ageing (2015) (0)
Subject Index Vol. 8, 2000 (2000) (0)
Identification of twenty-two novel GATA3 mutations in hypoparathyroidism-deafness-renal dysplasia syndrome (2013) (0)
Whole-exome sequencing studies of non-functioning pituitary adenomas (2013) (0)
Familial isolated primary hyperparathyroidism due to germline multiple endocrine neoplasia Type 1 (MEN1) mutations (2003) (0)
Abstract 851: Functional dissection of GNAQ and GNA11 oncogenic mutations identifies potential targeted therapy (2022) (0)
LOCALIZATION OF THE X-LINKED HYPOPHOSPHATEMIC RICKETS GENE (1986) (0)
THE PRODUCTION OF 1,25-DIHYDROXYVITAMIN-D IN PRIMARY HYPERPARATHYROIDISM (1986) (0)
A molecular deletional-insertion involving chromosomes Xq27 and 2p25 causes X-linked recessive hypoparathyroidism (2002) (0)
Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (AP2S1) Gene (2013) (0)
Large-Scale Sequence Database Analyses Reveals 5 novel GNA11 mutations that alter Calcium-Sensing-Receptor Signalling: Relevance for FHH2 and ADH2 (2019) (0)
The calcium-sensing receptor: one receptor but many lessons (2008) (0)
Hypoxia stimulates angiogenesis and a metabolic switch in human parathyroid adenoma cells (2021) (0)
A Novel Ser182Cys Substitution in the Calcium Sensing Receptor Protein is Likely Pathogenic and Consistent with Molecular Diagnosis of Familial Hypocalciuric Hypercalcaemia Type 1 (2019) (0)
Management of multiple endocrine neoplasia type 1 (MEN1) and sporadic pancreatic neuroendocrine tumours (PNETS) in relation to the clinical guidelines: a single centre audit (2016) (0)
Gene modifiers and novel therapies for multiple endocrine neoplasia type 1 (2012) (0)
Structure-function analysis of calcium-sensing receptor (CaSR) mutations reveal clustering at calcium binding sites of the extracellular bilobed venus flytrap domain (2012) (0)
SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1) (2020) (0)
delineation of Malan syndrome. (2018) (0)
Protein sequence analysis and modeling of His188Arg extracellular domain structure Protein sequences of prolactin receptor (2013) (0)
Calcium Sensing Receptor Common Variants Influence the Effects of Serum Calcium on Coronary Artery Disease Risks (2019) (0)
Hypoxic incubation favours the development and growth of primary human parathyroid adenoma cells (2014) (0)
Familial juvenile hyperuricaemic nephropathy is due to mutations in Tamm-Horsfall protein and hepatocyte nuclear factor 1[beta]: further evidence for genetic heterogeneity (2008) (0)
A time controlled [beta]-cell specific mouse model Men1 L/L /RIP2-CreER for pancreatic neuroendocrine tumours (NETs) (2016) (0)
Dent's like proximal renal tubular disorder in a First Nations' kindred. (1997) (0)
Introduction to Genetics (2018) (0)
A mouse model, Hcalc1, for autosomal dominant hypercalciuria is due to a transient receptor potential cation channel, subfamily V, member 5 (Trpv5) mutation (2009) (0)
Infidelity of ectopic transcription using a pseudo splice site: lessons from HNF-1[beta] mutation causing familial juvenile hyperuricaemic nephropathy (2010) (0)
Author Correction: Skeletal and extraskeletal disorders of biomineralization (2022) (0)
Edinburgh Research Explorer Novel gene function revealed by mouse mutagenesis screens for models of age-related disease (2016) (0)
Multiple endocrine neoplasia Type 1 (MEN1) caused by a novel mutation in intron 9 in a family with the McCune-Albright syndrome (2007) (0)
Chapter 26 – Hypoparathyroidism (2013) (0)
Mapping of Familial Juvenile Hyperuricaemic Nephropathy on Chromosome 16P12 in Six Families (2002) (0)
The role of DNA methylation in human pancreatic neuroendocrine tumours (2023) (0)
Hydroxymethylation is dysregulated in pancreatic neuroendocrine tumours and associated with aberrant DNA methylation (2022) (0)
Parafibromin germline mutations in patients with parathyroid tumours (2003) (0)
Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders (2018) (0)
Vitamin D-Dependent Rickets Type I caused by a Novel Frameshift Mutation of the 25-hydroxyvitamin D1-alpha-hydroxylase gene ( CYP27B1 ) (2016) (0)
Genetic models of bone disease using ENU mutagenesis (2009) (0)
Investigation of the effects and interactions of a human neuroendocrine tumour (NET) cell binding peptide (2016) (0)
Parathyroid gland studies in mouse models for endocrine tumours defines anatomical locations and ultrastructural differences between normal and tumour cells (2013) (0)
Diacylglycerol kinase delta haploinsufficiency in mice causes hypocalcaemia: relevance to human Autosomal Dominant Hypoclacemia (ADH) (2021) (0)
Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism (2013) (0)
Sedlin mutations disrupt interactions with pituitary homeobox 1 (Pitx1) and steroidogenic factor 1 (SF1): potential cause of delayed puberty in boys with Spondyloepiphyseal dysplasia tarda (SEDT) (2007) (0)
Hypercalciuric nephrocalcinosis in Japanese children due to mutations of the renal chloride channel (CLCN5). (1996) (0)
Identification of GATA3 zinc finger 1 residues that are important for interactions with friend of GATA 2 (FOG2) (2003) (0)
A 5'-untranslated region mutation of the growth and differentiation factor 5 (Gdf5) gene increases expression and is associated with decreased urinary excretion of the cartilage degradation product, CTX-II: relevance to osteoarthritis (2011) (0)
Molecular diagnosis of hypoparathyroidism: 2 illustrative cases (2003) (0)
A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies (2001) (0)
Association of calcium-sensing receptor polymorphisms with vascular calcification and glucose homeostasis in renal transplant recipients (2013) (0)
Renal Ion Channels: Function and Regulation (2000) (0)
Frequent Occurrence of An Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1 (Men1) (2002) (0)
Small molecules restore the function of mutant CLC5 associated with Dent disease (2020) (0)
Hypercalcaemic mice harbouring a germline ablation of G-protein subunit alpha-11 have anaemia that is corrected by treatment with erythropoietin (2022) (0)
A novel GATA3 mutation, Tyr345Cys, in hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome results in abolished DNA binding (2010) (0)
FHH3-associated AP2σ mutations impair MAPK signalling pathways (2015) (0)
Gut of UKNETwork for neuroendocrine tumours (2005) (0)
Conservative management of asymptomatic pelvi – ureteric junction obstruction ( A-PUJO ) – is it safe ? – a cohort study (2022) (0)
Phenocopies in Multiple Endocrine Neoplasia Type 1 (Men1) Present Diagnostic Challenges (2002) (0)
Multiple Endocrine Neoplasia: Spectrum of Radiologic Appear- ances and Discussion of a Multitechnique (2006) (0)
Hyperparathyroidism-jaw tumour syndrome (HPT-JT) in Romany families from Portugal is due to a founder mutation of parafibromin (2003) (0)
ANALYSIS OF THE GENE ENCODING AN X-LINKED VOLTAGE-GATED CHLORIDE CHANNEL IN IDIOPATHIC HYPERCALIURIA (1995) (0)
A mouse model generated by CRISPR-Cas9 with a frameshift mutation in the nuclear factor 1/X (NFIX) gene has phenotypic features reported in Marshall-Smith Syndrome (MSS) patients (2019) (0)
Studies of nuclear factor I/X (NFIX) mutations causing the Marshall-Smith syndrome (MSS) (2017) (0)
GATA3, Hypoparathryoidism, Deafness, and Renal Disease (2016) (0)
The calcilytic SHP635 rectifies hypocalcaemia and reduced parathyroid hormone concentrations in a mouse model for autosomal dominant hypocalcaemia type 1 (ADH1) (2016) (0)
Mapping of a renal calcification locus to a 5-megabase region on mouse chromosome 17B1/B2 (2007) (0)
Clinical studies of adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 reveal genotype-phenotype correlations and effectiveness of cinacalcet (2014) (0)
DISRUPTION OF MUSCLE STRESS-MEDIATED MINERAL ORIENTATION AT THE NANOSCALE IN THE SCAPULAR BONES OF RICKETS MICE WITH DEVELOPMENT (2012) (0)
Hereditary multiple exostosis due to an acceptor splice site mutation in the EXT1 gene (2002) (0)
Associations of adiposity, kidney stone disease, and serum calcium concentrations; observational and genetic epidemiological studies (2022) (0)
MicroRNA miR-3156-5p is down-regulated in serum of Multiple Endocrine neoplasia type 1 patients, and regulates expression of mortality factor 4-like protein 2 (MORF4L2) (2016) (0)
FURTHER LOCALIZATION OF THE GENE FOR X-LINKED HYPOPHOSPHATEMIA (1987) (0)
Nuclear factor I/X (NFIX) regulates the transcriptional activity of the cellular retinoic acid binding protein 2 (CRABP2) promoter and alters CRABP2 expression in Marshall-Smith Syndrome (MSS) patients. (2021) (0)
Men1 gene replacement therapy using a modified adenoviral vector demonstrates reduced proliferation rates in pituitary tumours from mice deleted for a multiple endocrine neoplasia type 1 allelle (2010) (0)
Analysis of human renal chloride channel (hCLC-5) mutations based on a three-dimensional model, suggests a structural-functional relationship (2003) (0)
Hypercalcaemia: a mixed family picture (2014) (0)
Novel Glial Cells Missing B (GCMB) mutations (Arg39Stop and Arg110Trp) that result in loss of subcellular localization and DNA binding, respectively, are associated with autosomal recessive hypoparathyroidism (2009) (0)
JQ1 treatment significantly reduces POMC expression and ACTH secretion from the corticotrophinoma cell line, AtT20 (2019) (0)
Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2) (2021) (0)
The AXT914 calcilytic compound increases plasma calcium and PTH in a mouse model for autosomal dominant hypocalcaemia type 1 (ADH1) (2022) (0)
cDNA expression profiling studies reveal 7 differentially expressed genes on mouse chromosome 7 that may influence renal calcification in C3H/HeH inbred mice (2007) (0)
Society for Endocrinology Dale Medal Lecture (2015) (0)
University of Southern Denmark Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias Gorvin, (2018) (0)
An ENU-induced Tyr265Stop mutation in Polg2 is associated with renal calcification in RCALC2 mice (2014) (0)
Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood. (1997) (0)
Erratum: Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31 (Journal of Bone and Mineral Research (February 1999) 14 (230-239)) (1999) (0)
Multiple endocrine neoplasia type 1 (MEN1) in identical twins, with different MEN1 tumours, is due to a deletion of the MEN1 5′ untranslated region (UTR) (2016) (0)
The calcilytic NPS2143 rectifies the gain-of-function associated with G-protein [alpha] 11 mutations causing autosomal dominant hypocalcaemia type 2 (2014) (0)
Molecular genetic diagnosis for disorders of calcium metabolism (2003) (0)
Nuf mice with an activating calcium sensing receptor mutation, Leu723Gln, have a metabolic acidosis and impaired urinary acidification (2010) (0)
Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1. (2001) (0)
Ap2s1 mutation in mice causes familial hypocalciuric hypercalcemia type 3 (2020) (0)
Molecular pathology of renal chloride channels and calcium metabolism (2003) (0)
A mouse model with a frameshift mutation in the nuclear factor I/X ( NFIX ) gene has phenotypic features of Marshall‐Smith Syndrome (2023) (0)
Genetics and management of multiple endocrine neoplasia type 1 (MEN1) (2003) (0)
ASSOCIATION OF DE-NOVO MUTATIONS IN THE CALCIUM-SENSING RECEPTOR GENE WITH SPORADIC NEONATAL SEVERE HYPERPARATHYROIDISM (1995) (0)
Epigenetic inhibitor treatment reduces proliferation via induction of apoptosis in a human typical bronchial carcinoid cell line (2018) (0)
Functional and association studies of calcium sensing receptor polymorphisms and mediators of calcium homeostasis (2003) (0)
Identification of murine neuroendocrine tumour (NET) cell binding peptides identified through phage display (2016) (0)
SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause (2020) (0)
Studies of Nuf mice with an activating calcium-sensing receptor (CaSR) mutation demonstrate the CaSR to regulate pancreatic beta-cell mass and glucose homeostasis (2015) (0)
Systematic in silico evaluation of rare genetic variants in G-protein alpha 11 (G[alpha]11) (2017) (0)
GNA11 loss-of-function mutations cause familial hypocalciuric hypercalcaemia type 2 (FHH2) (2013) (0)
Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3. (2023) (0)
Whole genome sequence analysis establishes correct diagnosis for a syndromic form of hyperuricaemia (2018) (0)
Making your impact statement: pack a punch (2015) (0)
An N-ethyl-N-nitrosourea induced Corticotrophin releasing hormone promoter mutation provides a mouse model of Cushing's syndrome (2013) (0)
A case of Idiopathic Infantile Hypercalcaemia (IIH) persisting into adulthood, caused by compound heterozygous mutations of 1,25-dihydroxyvitamin D2 24-hydroxylase (CYP24A1) (2018) (0)
Asymptomatic children with multiple endocrine neoplasia type 1 (MEN1) mutations harbour pancreatic and pituitary tumours (2009) (0)
808 Seizures in Sturge-Weber syndrome are associated with disrupted calcium metabolism (2023) (0)
Identification of prolactin receptor variants with diverse effects on receptor signalling (2022) (0)
Construction of a recombinant adenovirus vector for Men1 gene delivery (2008) (0)
Clinical evaluation of a multiple-gene sequencing panel for hypoparathyroidism (2017) (0)
Contents Vol. 11, 2006 (2006) (0)
Genetics, pathophysiology and translational models of MEN1 (2014) (0)
Subject Index Vol. 11, 2006 (2006) (0)
Gene mapping of mineral metabolic disorders (1989) (0)
A mouse model, Slip, for an X-linked metaphyseal chondrodysplasia (2010) (0)
Identification of the gene causing familial juvenile hyperuricaemic (Gouty) nephropathy (2003) (0)
THE MOLECULAR BASIS FOR DENT ’ S DISEASE : AN X-LINKED HYPERCALCIURIC NEPHROLITHIASIS DISORDER (2018) (0)
The microRNA let-7a is downregulated in pituitary tumours from a multiple endocrine neoplasia type-1 mouse model (2010) (0)
The prolactin receptor variant, Asn492Ile, results in activation of the Akt signalling pathway, and is found more frequently in patients with prolactinomas (2016) (0)
Effect of vitamin D analogue therapy in a patient with autosomal dominant hypocalcaemia type 2 (ADH2) due to GNA11 p.Arg60Leu mutation (2019) (0)
Molecular analysis of X-linked diseases. (1986) (0)
Transforming Growth Factor beta (TGF(beta)) Signalling Is Inhibited in Anterior Pituitary Tumours in a Mouse Model of Multiple Endocrine Neoplasia Type 1 ( MEN1). (2010) (0)
Mice harbouring the familial juvenile hyperuricaemic nephropathy disease-causing uromodulin (Tamm-Horsfall glycoprotein) mutation Cys125Arg, have a urine concentrating defect, progressive renal failure, and altered uric acid handling (2010) (0)
Bromodomain inhibitors reduce proliferation and increase apoptosis of human neuroendocrine tumour cells (2014) (0)
Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda. (1997) (0)
A Ser1386Pro mutation in the C-propeptide domain of Col2a1 results in spondyloepiphyseal dysplasia congenita in mice (2009) (0)
Exploring the N-ethyl-N-nitrosourea mutagenesis DNA archive for mutations in nuclear factor I/X to derive mouse models for Marshall-Smith syndrome (2015) (0)
MicroRNAs, let-7 and miR-302, have an altered expression in Men1-null embryos, consistent with abnormal embryonic development (2010) (0)
Multiple endocrine neoplasia type 1. (1999) (0)
THE GENE CAUSING DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ON THE SHORT ARM OF THE X-CHROMOSOME (XP11.22) (1993) (0)
Global Challenges and New Horizons (2022) (0)
An epigenetic modifier reduces proliferation in pituitary cells and suppresses calcium-sensing receptor signalling (2018) (0)
Mutations in G-protein subunit [alpha] q (GNAQ) are not a cause of familial hypocalciuric hypercalcaemia (2015) (0)
Parafibromin, a tumour suppressor protein, interacts with transforming acidic-coiled coil protein 3 and kinesin family member 5B (2010) (0)
Parathyroid diseases and multiple endocrine neoplasia (2014) (0)
Cataracts are a phenotypic feature of autosomal dominant hypocalcaemia with hypercalciuria (ADHH): lessons from the Nuf mouse model with an activating calcium sensing receptor (CaSR) mutation (2008) (0)
Multiple Endocrine Neoplasia Type 1 (MEN1): Recognition, Evaluation, and Management (2015) (0)
Multiple endocrine neoplasia type 1 (MEN1) phenocopy due to a P.Leu380Phe cell division cycle 23 (CDC73) mutation (2017) (0)
Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13). (2002) (0)
Potential benefits of a multinational patient alliance to patients with MEN (2014) (0)
Localisation of a renal calcification locus to a 5 Mbp-region on mouse chromosome 11D-E2 (2007) (0)
Undiagnosed probable genetic primary hyperparathyroidism presenting with brown tumors and deafness (2021) (0)
X-linked hypophosphatemia candidate gene region: Sequence data on 80 KB containing spermine synthase and the 5' region of PEX (1996) (0)
Genetic disorders of calcium metabolism (2000) (0)
Role of genetic and biomarker tests for diagnosis of neuroendocrine tumours (NETs) (2017) (0)
Compound heterozygous AIRE-1 mutations in autoimmune polyendocrinopathy type 1 (2002) (0)
AP 2 s Mutations Impair Ca lcium-Sensing Receptor Trafficking and Signaling , and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity Graphical Abstract Highlights (2018) (0)
A cyclin dependent kinase inhibitor 1B missense mutation (Pro69Leu) is associated with familial hypomagnesaemia, but not multiple endocrine neoplasia type 4 (MEN4) (2019) (0)
Pituitary tumours of mice deleted for a multiple endocrine neoplasia type 1 allele have alterations in apoptotic pathway components (2010) (0)
SAT-036 Extracellular Domain Calcium-Sensing Receptor (CaSR) Mutations Leading to Hypercalcemic and Hypocalcemic Disorders Cluster at the Homodimeric Interface (2019) (0)
GATA3 missense mutation disrupts interaction with Friend of GATA 2 (FOG2) and causes the hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome (2003) (0)
Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis (1996) (0)
Multiple endocrine neoplasia type 1 (MEN-1) mutation analysis in patients with primary hyperparathyroidism under the age of 40 years (2010) (0)
Sodium-dependent regulation of ENaC by apical P2 receptors in rat collecting duct: are P2X receptors luminal sodium sensors? (2008) (0)
Uterine tumours with loss of progesterone receptor expression develop in mice deleted for a cell division cycle 73 allele (2013) (0)
MAPPING OF THE GENE CAUSING X-LINKED HYPOPHOSPHATEMIC RICKETS (1986) (0)
X-linked hypophosphatemia (XLH): Mutations compromising PHEX structure reflect a severe phenotype (1999) (0)
Mutations of the Chloride/Proton Antiporter, CLC-5, lead to Impaired Endosomal Acidification in Human Proximal Tubule Epithelial Cell-lines (2012) (0)
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcaemia type 3 (ADH3) (2014) (0)
Genetic Basis of Renal Stones (2013) (0)
Genetic mapping studies of familial benign hypercalcemia type 3 (FBH3) on chromosome 19q13. (1999) (0)
Genetic background influences tumour phenotype in heterozygous Men1 knockout mice (2013) (0)
Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia type 1 (2017) (0)
OR30-5 Germline Ablation of G-Protein Subunit Alpha-11 in Mice Causes Hypercalcemia That Is Rectified by Treatment with Cinacalcet (2019) (0)
Proliferation of Pancreatic Islet and Anterior Pituitary Neuroendocrine Tumours (NETs) Developing in a Mouse Model of Multiple Endocrine Neoplasia Type 1 (MEN1) Is Consistent with a Third Order Regression Mathematical Model. (2010) (0)
Profiling of tissue inflammatory cytokine expression in a pancreatic neuroendocrine tumour mouse model identifies upregulation of the chemokine C-C motif ligand 2 (CCL2) (2019) (0)
Combination of JQ1, an inhibitor of epigenetic pathways, and everolimus for treatment of pancreatic and bronchial neuroendocrine tumours (2017) (0)
University of Southern Denmark Clinical Features of Multiple Endocrine Neoplasia Type 4 Novel Pathogenic Variant and Review of Published Cases (2019) (0)
Ectopic transcription of the parathyroid hormone gene in lymphocytes from normal and hypoparathyroid individuals (1992) (0)
Idiopathic Infantile Hypercalcaemia (IHH) caused by a missense mutation of 1,25-dihydroxyvitamin D2 24-hydroxylase (CYP24A1) (2016) (0)
Assessment of in vivo proliferation rates in insulinomas of multiple endocrine neoplasia type 1 knockout mice: implications for evaluating effectiveness of future treatments (2008) (0)
Functional Evaluation of Rare Genetic Variants in the Prolactin Receptor (2014) (0)
A rare case of Hypocalcaemia - A diagnostic dilemma (2021) (0)
Characterisation of parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) in 3 families with autosomal recessive hypoparathyroidism (2007) (0)
Association of calcium-sensing receptor polymorphisms with indices of vascular calcification in renal transplant recipients (2012) (0)
A range of functional consequences caused by Dent’s disease missense mutations of ClC-5 (2008) (0)
MON-539 Mice Harboring a Germline Heterozygous AP2S1 Mutation, Arg15Leu, Are a Model for Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) (2019) (0)
Images in Nephrology (Section Editor: Guy Neild) (2005) (0)
Central adiposity raises serum calcium concentrations and increases risk of kidney stone disease (2022) (0)
Clinical characteristics and outcomes of 23 patients with insulinoma: a single centre retrospective observational study 2011-2018 (2019) (0)
Genetic diagnostic services for familial endocrine cancers and hypercalcaemic disorders (2002) (0)
Paraﬁbromin, a Component of the Human PAF Complex, Regulates Growth Factors and Is Required for Embryonic Development and Survival in Adult Mice (cid:1) † (2008) (0)
The role of biased calcium-sensing receptor signalling in urinary calcium excretion and kidney stone disease (2019) (0)
Macrophage Stimulating 1 Receptor (2011) (0)
A gene causing autosomal dominant kyphoscoliosis in an N-ethyl-N-nitrosourea (ENU) mutagenised mouse model is located on a 5 Mb interval on mouse chromosome 4 band A3 (2011) (0)
Genome comparison between human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals loss, in man, of 5.1 Mb containing 4 mouse G-protein coupled receptors: relevance to familial benign hypocalciuric hypercalcaemia type 3 (2007) (0)
CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES-11 AND XP (1991) (0)
Endocrine-Related Cancer ( 2003 ) 10 437 – 450 Genetics of neuroendocrine and carcinoid tumours (2004) (0)
Detection of chromosomal abnormalities, copy number variations (cnvs), and mutations causing (2021) (0)
The Calcium-Sensing Receptor, a Class C GPCR, Spatially-Directs G-protein Selectivity via Endosomal Signaling. (2017) (0)
X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25. (2001) (0)
QTL mapping for hypercalcluria in a rat model of kidney stone disease. (2003) (0)
Chapter 101. Genetic Basis of Renal Stones (2009) (0)
A novel AVPR2 mutation in a kindred with nephrogenic diabetes insipidus (2002) (0)
University of Southern Denmark AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Pr (2018) (0)
3. Vitamin D metabolism in oncogenous osteomalacia (1988) (0)
Chapter 30 – Multiple Endocrine Neoplasia Type 1 (2013) (0)
Mini Calcium-sensing receptor: Role in health and disease (0)
Calcium-sensing receptor (CaSR) mutations in hypercalcaemic and hypocalcaemic patients cluster at the extracellular dimer interface (2017) (0)
Mice deleted for the transcription factor Gata3 have fewer parathyroid cells expressing Gcm2, develop hypocalcaemia and have an earlier onset of mortality when challenged with a low calcium-vitamin D diet (2010) (0)
A novel PHEX mutation, p.(Trp749Ter), is associated with hypophosphataemia and rhabdomyolysis in adulthood (2019) (0)
RF19 | PSUN349 Histone Eraser and Reader Targeting Epigenetic Inhibitors Are Effective in Pancreatic Neuroendocrine Tumours (2022) (0)
Molecular genetics and disorders of the calcium-sensing receptor (1999) (0)
Somatostatin producing cells are significantly decreased in insulinoma islets of multiple endocrine neoplasia type 1 (MEN1) knockout mice: implication for pancreatic proliferation rates (2008) (0)
Wnt/[beta]-catenin signalling is down-regulated in pituitary tumours from a multiple endocrine neoplasia type 1 (MEN1) mouse model (2010) (0)
Altered cell biology of CLC-5 by Dent’s disease-causing missense mutations (2007) (0)
A mouse with an ENU-induced mutation (Tyr209Asn) in the natriuretic peptide receptor 3 (Npr3) develops autosomal recessive kyphosis (2011) (0)
Central adiposity and diabetes are causally associated with kidney stone disease (2021) (0)
A 10-year-old Girl with Primary Hypoparathyroidism and Systemic Lupus Erythematosus (SLE) (2019) (0)
HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE (1995) (0)
Identification of 12 adaptor protein-2 sigma 2 subunit mutations in familial hypocalciuric hypercalcaemia type 3 and expansion of phenotypic spectrum. (2014) (0)
Nuf mice with an activating calcium sensing receptor mutation, Leu723Gln, have hypercalciuria and diabetes insipidus (2009) (0)
CLC Chloride Channels and Human Disease (1996) (0)
Assessment of in vivo proliferation rates in pituitary tumours of multiple endocrine neoplasia type 1 knockout mice: implications for evaluating treatment (2009) (0)
New candidate genes for X-linked recessive hypoparathyroidism. (1999) (0)
The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell lines (2021) (0)
Long term outcomes following parathyroidectomy in patients with multiple endocrine neoplasia type 1: A retrospective cohort study (2019) (0)
X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene. (1997) (0)
Mutations of the transcription factor, GATA3, in oestrogen receptor positive breast cancers (2010) (0)
The Megalin-Cubilin receptor-mediated endocytic pathway is impaired in Dent's disease renal proximal tubule cell-lines (2011) (0)
LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22) (1992) (0)
Calcium-sensing receptor internalisation is impaired in cells expressing FHH3-associated AP2σ mutations (2015) (0)
Best Practice & Research Clinical Endocrinology & Metabolism (2013) (0)
Chapter 34 – Hypoparathyroidism (2018) (0)
Corrigendum to 'Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes' [Surgery 171 (2021) 77-87]. (2022) (0)
A Targeted Agent Rectifies the Impaired Glucose Tolerance Associated with a Calcium-Sensing Receptor Gain-of-Function Mouse Model (2014) (0)
Prognostic indicators of metastatic neuroendocrine tumour of unknown primary site: a single centre retrospective study (2019) (0)
MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11 (1994) (0)
Mutational analysis of a patient with familial hypocalciuric hypercalcaemia identifies a novel p.Ser182Cys mutation, which is predicted to disrupt the calcium sensing receptor (CaSR) extracellular domain (2019) (0)
Identification of a frame-shifting c.348dupC GNAS mutation in a family with Pseudohypoparathyroidism type 1a (PHP1a) by Whole Genome Sequencing (2018) (0)
Quantitative definition of tubular proteinuria based on studies of patients with mutations of the CLCN5 chloride channel gene (Dents disease and X-linked recessive nephrolithiasis) (1998) (0)
Expression of the parathyroid-specific transcription factor glial cell-missing B is regulated by GATA3 (2008) (0)
Autosomal dominant hypocalcemia type 2 is caused by germline GNA11 gain-of-function mutations (2013) (0)
Multiple Endocrine neoplasia Type 1 (MEn1): update and Case Presentation (2013) (0)
Nuf mice with an activating calcium-sensing receptor mutation, Leu723Gln, have impaired glucose tolerance and reduced insulin secretion (2010) (0)
Assessment of in vivo proliferation rates in parathyroid tumours of multiple endocrine neoplasia type 1 (MEN1) knockout mice: implications for evaluating the effectiveness of novel therapies. (2009) (0)
Multiple Endocrine Neoplasia Syndromes (2018) (0)
A Pst I Restriction Fragment Length Polymorphism near the MAO locus on Xp (1996) (0)
The founder R304* AIP mutation is prevalent in Irish acromegaly and gigantism patients as well as in the general population of Ireland (2015) (0)
Disease Related Mutations Adjacent to Predicted Multiple Ca2+ Binding Sites of Ca2+-Sensing Receptor Altering Intracellular Ca2+ Oscillations via Extracellular Calcium and Amino Acid Signaling (2012) (0)
The calcilytic agent NPS2143 rectifies hypocalcaemia in a mouse model, Nuf, that is due to an activating calcium-sensing-receptor (CaSR) mutation: relevance to autosomal dominant hypocalcaemia with hypercalciuria (2008) (0)
Multiple Endocrine Neoplasia (MEN) Genes (2002) (0)
LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY (1995) (0)
Tamm-Horsfall glycoprotein mutants, which cause familial juvenile hyperuricaemic nephropathy are retained in the endoplasmic reticulum, resulting in delayed maturation and trafficking to the plasma membrane (2008) (0)
Renal ion channels: Function and regulation - Preface (2000) (0)
Molecular mechanisms of hypercalciuria and kidney stones (1998) (0)
Calcium homeostasis and parathyroid function in Gata3 knockout mice: relevance to the human hypoparathyroidism, deafness and renal dysplasia syndrome (2007) (0)
Somatic mutations of GNA 11 and GNAQ in CTNNB 1-mutant aldosterone-producing 13 adenomas presenting in puberty , pregnancy or menopause 14 15 (2021) (0)
Molecular genetic map for X-linked hypophosphataemia using an interspecific MUS spretus/MUS musculus dohesticus backcross (1992) (0)
MicroRNAs, miR-15a and miR-16-1, are implicated in pituitary tumourigenesis via regulation of cyclin D1 (2010) (0)
A loss-of-function mutation in the prolactin receptor causes familial hyperprolactinaemia (2014) (0)
Hypoparathyroidism - A Review of the Molecular Genetic Testing Service in Oxford (2008) (0)
Increased frequency and earlier onset of pituitary tumours in mice deleted for a multiple endocrine neoplasia type 1 allele and null for prolyl hydroxylase domain protein 1 (Men1+/-/Phd1-/-) (2014) (0)
Epigenetic modifiers reduce proliferation of human neuroendocrine tumour cell lines (2013) (0)
A Calcium-Sensing Receptor (CASR) Mutation Causes Hypocalcemia by Disrupting a Transmembrane Salt Bridge that Modulates beta-arrestin Signaling. (2017) (0)
5. Chromosomal localisation of DNA probes for the hypophosphataemic rickets gene (1991) (0)
Characterisation of rare GNA11 variants reveals 8 novel residues important for signalling by the calcium-sensing receptor: Relevance for FHH and ADH (2019) (0)
Exacerbation of hypercalcemia caused by lithium in a patient with familial hypocalciuric hypercalcemia due to a calcium sensing receptor mutation (2018) (0)
Rapid screening for novel bone phenotypes in 100 consecutive lines from the Wellcome Trust Sanger Institute Gene Targeting Programme (2010) (0)
Calcium regulation: from rhinos to molecules (2015) (0)
Hypercalcaemic Disorders in Children (2016) (0)
Studies of an Autosomal Dominant Hypocalcemia type-1 (ADH1) associated calcium-sensing receptor (CaSR) mutation, Arg680Gly, provides insights into biased signalling (2016) (0)
Mutations in CLC-5 cause disturbances in cytoskeletal dynamics and solute transport in Dent's disease renal proximal tubule cell-lines (2013) (0)
A case of vitamin D-dependent rickets type 2A (VDDR2A), caused by compound-heterozygous mutations in the vitamin D receptor (VDR) (2018) (0)
Chapter 21 – Parathyroid Disorders (2012) (0)
LOCALISATION OF THE X-LINKED HYPOPHOSPHATAEMIC RICKETS GENE (1986) (0)
O108 Central adiposity influences serum calcium concentrations and increases risk of kidney stone disease (2022) (0)
GNA11 variants identified in patients with hypercalcemia or hypocalcemia. (2023) (0)
Alterations of CLC-5 expression, function and trafficking in Dent's disease (2013) (0)
Mechanisms of DNA binding by the transcription factor GATA3 revealed by mutations causing the hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome (2007) (0)
Novel models of late onset, progressive osteoarthritis caused by point mutations in the two alpha chains of collagen type I (2017) (0)
Clinical studies of patients with neuroendocrine tumours (NETs) (2004) (0)
Treatment with the epigenetic modifying compound JQ1+ can significantly reduce the proliferation of pancreatic neuroendocrine tumours in a mouse model of multiple endocrine neoplasia type 1 (2015) (0)
List of Contributors (2020) (0)
Endocytosis involves a CLC-5 and KIF3B interaction: relevance to thyroid and renal tubular function (2008) (0)
Uniparental isodisomy as a cause of the autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome (2017) (0)
Metabolic cage studies reveal that mice require 5 days for acclimatisation: establishing normal urinary and blood biochemistry values in BALB/c and C3H/HeH inbred mouse strains (2007) (0)
The role of the transcription factor GATA3 in calcium homeostasis and tumourigenesis (2011) (0)
Identification of a kindred from Northern Ireland with familial hypocalciuric hypercalcaemia type 3, which maps to chromosome 19q13.3 (2009) (0)
Proteinuria of the Fanconi syndrome comprises proteins in the mass range from insulin to IgG (2001) (0)

This paper list is powered by the following services:

Other Resources About Rajesh Thakker

en.wikipedia.org

What Schools Are Affiliated With Rajesh Thakker?

Rajesh Thakker is affiliated with the following schools:

Rajesh Thakker's Academic­Influence.com Rankings