Research Topics
Genomes and Genes
| Rajesh V ThakkerSummaryAffiliation: University of Oxford Country: UK Publications
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Detail Information
Publications
Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with developmentA Karunaratne
Queen Mary University of London, School of Engineering and Material Sciences, Mile End Road, London, E1 4NS, UK
Bone 51:553-62. 2012....
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)Rajesh V Thakker
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom
J Clin Endocrinol Metab 97:2990-3011. 2012..The aim was to provide guidelines for evaluation, treatment, and genetic testing for multiple endocrine neoplasia type 1 (MEN1)...- Dent's diseaseOlivier Devuyst
Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium
Orphanet J Rare Dis 5:28. 2010..The vital prognosis is good in the majority of patients. Progression to end-stage renal failure occurs between the 3rd and 5th decades of life in 30-80% of affected males... 
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndromeR V Thakker
Molecular Endocrinology Group, University of Oxford, John Radcliffe Hospital, Headington, Oxford, Oxon, UK
Exp Nephrol 8:351-60. 2000..These molecular genetic studies have increased our understanding of the renal tubular mechanisms that regulate mineral homeostasis...- Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasisR V Thakker
Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, England, United Kingdom
Kidney Int 57:787-93. 2000..Thus, four hereditary disorders of nephrolithiasis are due to mutations of the novel chloride channel, CLCN5... - Genetics of endocrine and metabolic disorders: parathyroidR V Thakker
May Professor of Medicine, Nuffield Department of Clinical Medicine, University of Oxford, Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, Oxford OX3 7LD, UK
Rev Endocr Metab Disord 5:37-51. 2004 - Multiple endocrine neoplasia type 1R V Thakker
Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, England
Endocrinol Metab Clin North Am 29:541-67. 2000..Recent advances permit the identification of mutant MEN1 gene carriers who are at a high risk for this disorder and who require regular and biochemical screening to detect the development of endocrine tumors... - Diseases associated with the extracellular calcium-sensing receptorR V Thakker
Nuffield Department of Clinical Medicine, Botnar Research Centre, Nuffield Orthopaedic Centre, University of Oxford, Headington, Oxford OX3 7LD, UK
Cell Calcium 35:275-82. 2004..e. autoimmune) of hypoparathyroidism. Thus, abnormalities of the CaSR are associated with three hypercalcaemic and three hypocalcaemic disorders... - Multiple endocrine neoplasia type 1 (MEN1)Rajesh V Thakker
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom
Best Pract Res Clin Endocrinol Metab 24:355-70. 2010..The majority of MEN1 mutations are likely to disrupt the interactions of Menin with other proteins and thereby alter critical events in cell cycle regulation and proliferation... - Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemiaBrian Harding
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, University of Oxford, Oxford, UK
Endocr Relat Cancer 16:1313-27. 2009..Thus, these Men1(+/-) mice are representative of MEN1 in man, and will help in investigating molecular mechanisms and treatments for endocrine tumours... - Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's diseaseFiona Wu
Nuffield Department of Clinical Medicine, Academic Endocrine Unit, University of Oxford, and Churchill Hospital, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
Nephron Physiol 112:p53-62. 2009..Dent's disease is caused by mutations in the chloride/proton antiporter, CLC-5, or oculo-cerebro-renal-syndrome-of-Lowe (OCRL1) genes... - Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sitesFadil M Hannan
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, University of Oxford, Oxford, UK
Hum Mol Genet 21:2768-78. 2012..Thus, these studies of disease-associated CaSR mutations have further elucidated the role of the VFTD cleft region in Ca(2+) binding and the function of the CaSR... - A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidismSamantha M Mirczuk
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism OCDEM, Churchill Hospital, Headington Oxford OX3 7LJ, UK
J Clin Endocrinol Metab 95:3512-6. 2010..To date, only two different heterozygous GCMB mutations have been reported in three kindreds with autosomal dominant hypoparathyroidism... - Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2Irina V Grigorieva
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Headington, Oxford, United Kingdom
J Clin Invest 120:2144-55. 2010..Thus, GATA3 is critical for the differentiation and survival of parathyroid progenitor cells and, with GCM2/B, forms part of a transcriptional cascade in parathyroid development and function... - Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemiaM Andrew Nesbit
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, United Kingdom
N Engl J Med 368:2476-86. 2013..3. We also postulated that mutations effecting Gα11 gain of function, like the mutations effecting calcium-sensing receptor gain of function that cause autosomal dominant hypocalcemia type 1, may lead to hypocalcemia... - Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3M Andrew Nesbit
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom
J Clin Endocrinol Metab 95:1947-54. 2010..FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown... - Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumorsPaul J Newey
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism OCDEM, Churchill Hospital, Headington Oxford, OX3 7LJ, United Kingdom
J Clin Endocrinol Metab 94:3640-6. 2009..However, the lower penetrance in the younger group, which is based on detecting hormone-secreting tumors, may be an underestimate because patients may have nonfunctioning tumors and be asymptomatic... - Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidismMichael R Bowl
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
Hum Mol Genet 19:2028-38. 2010.... - 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 3Fadil M Hannan
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Churchill Hospital, University of Oxford, Oxford, UK
Eur J Hum Genet 18:442-7. 2010..The results of this study have refined the map location of FBHH3, which will facilitate the identification of another CaSR or a mediator of calcium homeostasis... - CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's diseaseAnita A C Reed
Academic Endocrine Unit, Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, Oxford, United Kingdom
Am J Physiol Renal Physiol 298:F365-80. 2010..Thus, the CLC-5 and KIF3B interaction is important for CLC-5 plasma membrane expression and for facilitating endocytosis and microtubular transport in the kidney... - A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndromeKatherine U Gaynor
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom
J Clin Endocrinol Metab 94:3897-904. 2009..The hypoparathyroidism, deafness, renal dysplasia (HDR) syndrome is caused by mutations in the gene encoding GATA3, which belongs to a family of dual zinc-finger transcription factors that have a role in vertebrate embryonic development... - Proliferation rates of multiple endocrine neoplasia type 1 (MEN1)-associated tumorsGerard V Walls
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, United Kingdom
Endocrinology 153:5167-79. 2012.... - Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3M Andrew Nesbit
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK
Nat Genet 45:93-7. 2013..Thus, our results identify a new role for AP2 in extracellular calcium homeostasis... - A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosisChristopher T Esapa
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, United Kingdom
PLoS ONE 7:e43205. 2012..Thus, TCAL mice have the phenotypic features of FTC and HHS, and provide a model for these disorders of phosphate metabolism... - SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1Jeshmi Jeyabalan
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, United Kingdom
PLoS ONE 5:e10646. 2010..SEDLIN mutations cause X-linked spondyloepiphyseal dysplasia tarda (SEDT)... - Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21Sian E Piret
Academic Endocrine Unit, Oxford Centre for Diabetes Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford, OX3 7LJ, UK
Hum Genet 129:51-8. 2011..FJHN3 is likely located within a approximately 5.5 Mbp interval on chromosome 2p22.1-p21, and identifying the genetic abnormality will help to further elucidate mechanisms predisposing to gout and renal failure... - Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1)Jeremy J O Turner
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, UK
Hum Mutat 31:E1089-101. 2010..Phenocopies arose in >5% of MEN1 families, and awareness of them is important in the clinical management of MEN1 and other hereditary disorders... - An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidismMichael R Bowl
Academic Endocrine Unit, Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Oxford, United Kingdom
J Clin Invest 115:2822-31. 2005..5 and 15.5 days post coitum. Thus, our results indicate a likely new role for SOX3 in the embryonic development of the parathyroid glands... - Whole-exome sequencing studies of nonfunctioning pituitary adenomasPaul J Newey
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom
J Clin Endocrinol Metab 98:E796-800. 2013..The tumorigenic role of genetic abnormalities in sporadic pituitary nonfunctioning adenomas (NFAs), which usually originate from gonadotroph cells, is unknown... - Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5Nellie Y Loh
Academic Endocrine Unit, Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Headington, Oxford, United Kingdom
PLoS ONE 8:e55412. 2013.... - Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAsif Ali
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
Hum Mol Genet 16:265-75. 2007.... - Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumorsPaul J Newey
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, United Kingdom
Hum Mutat 31:295-307. 2010..These CDC73 mutations, together with their clinical and biological relevance, are reviewed... - Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral densityBrian Harding
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology, and Metabolism OCDEM, University of Oxford, Churchill Hospital, Headington, Oxford, UK
Clin Endocrinol (Oxf) 65:598-605. 2006..We therefore further investigated three CaSR coding region polymorphisms (Ala986Ser, Arg990Gly and Gln1011Glu) for associations with indices of calcium homeostasis and BMD and for alterations in receptor function... - Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patientsCaroline M Gorvin
Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Nuffield Department of Clinical Medicine, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, United Kingdom
Proc Natl Acad Sci U S A 110:7014-9. 2013.... - Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndromeM Andrew Nesbit
Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford OX3 7LJ, United Kingdom
J Biol Chem 279:22624-34. 2004.... - GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasivenessKatherine U Gaynor
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, University of Oxford, Oxford, OX3 7LJ, UK
Horm Cancer 4:123-39. 2013..Thus, approximately 20 % ER-positive breast cancers have somatic GATA3 mutations that lead to a loss of GATA3 transactivation activity and altered cell invasiveness... - Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomasPaul J Newey
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, and Department of Surgery, John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford, UK
J Clin Endocrinol Metab 97:E1995-2005. 2012..Genetic abnormalities, such as those of multiple endocrine neoplasia type 1 (MEN1) and Cyclin D1 (CCND1) genes, occur in <50% of nonhereditary (sporadic) parathyroid adenomas... - A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1Manuel C Lemos
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
Clin Endocrinol (Oxf) 66:709-13. 2007..To investigate a family with an unusual combination of multiple endocrine neoplasia (MEN1) and the McCune-Albright syndrome for MEN1 mutations and activating GNAS1 mutations at codons Arg201 and Gln227... - MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomasGerard V Walls
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, United Kingdom
Cancer Res 72:5060-8. 2012..Our findings establish that MEN1 gene replacement therapy can generate menin expression in pituitary tumors, and significantly reduce tumor cell proliferation... - Genetic causes of hypercalciuric nephrolithiasisMichael J Stechman
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
Pediatr Nephrol 24:2321-32. 2009..These studies have provided valuable insights into the renal tubular pathways that regulate calcium reabsorption and predispose to hypercalciuria and nephrolithiasis... - Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the geneManuel C Lemos
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Oxford, United Kingdom
Hum Mutat 29:22-32. 2008..The majority of MEN1 mutations are likely to disrupt the interactions of menin with other proteins and thereby alter critical events in cell cycle regulation and proliferation... - Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulumSian E Williams
Academic Endocrine Unit, Churchill Hospital, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Headington, Oxford OX3 7LJ, UK
Hum Mol Genet 18:2963-74. 2009..Thus, FJHN-causing Uromodulin mutants are retained in the ER, with impaired intracellular maturation and trafficking, thereby indicating mechanisms whereby Uromodulin mutants may cause the phenotype of FJHN... - X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPaseM Andrew Nesbit
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
Genomics 84:1060-70. 2004..Analyses of ATP11C, MCF2, SOX3, and U7snRNA in HPT patients did not reveal mutations, implicating regulatory changes or mutation of an as yet unidentified gene in the etiology of X-linked hypoparathyroidism... - An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excessLiz Bentley
Mammalian Genetics Unit L B, C T E, R A H, S D M B, R D C and Mary Lyon Centre C L S, T A H, Medical Research Council Harwell, Harwell Science and Innovation Campus, Oxfordshire OX11 0RD, United Kingdom Academic Endocrine Unit C T E, M A N, R A H, F M H, R V T, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, Oxford OX3 7LE, United Kingdom The Mellanby Centre for Bone Research H E, D L, Department of Human Metabolism, University of Sheffield, Sheffield S10 2RX, United Kingdom Wellcome Trust Sanger Institute C P, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom Norwich Medical School W D F, University of East Anglia, Norwich Research Park, Norwich NR4 7TJ, United Kingdom Garvan Institute of Medical Research P I C, Musculoskeletal Medicine Division, University of New South Wales,
Endocrinology 155:908-22. 2014..Thus, a mouse model for Cushing's syndrome has been established, and this will help in further elucidating the pathophysiological effects of glucocorticoid excess and in evaluating treatments for corticosteroid-induced osteoporosis. .. - A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutationSian E Piret
Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
PLoS ONE 7:e45217. 2012..This mouse model could help to increase our understanding of the molecular mechanisms associated with renal fibrosis and the specific roles of XDH and uric acid... - Anatomic and functional imaging of metastatic carcinoid tumorsAndrew F Scarsbrook
Department of Radiology, Churchill Hospital, Oxford Radcliffe Hospitals NHS Trust, Headington, Oxford, England, UK
Radiographics 27:455-77. 2007..Finally, an understanding of the wide variety of treatment options for patients with carcinoid tumors is vital for optimal management... - Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiersManuel C Lemos
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford OX3 7LJ, UK
J Endocrinol 203:133-42. 2009..01). Thus, our findings demonstrate the importance of genetic background in influencing the phenotypes of embryonic lethality and neural tube defects in Men1(-/-) mice, and implicate a role for genetic modifiers... - Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 geneFadil M Hannan
Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, University of Oxford, Churchill Hospital, Oxford, UK
Nat Clin Pract Endocrinol Metab 4:53-8. 2008..We have explored these possibilities in a patient with primary hyperparathyroidism, whose mother had a history of renal calculi and primary hyperparathyroidism... - Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolismFadil M Hannan
Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Nuffield Department of Clinical Medicine, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK
Best Pract Res Clin Endocrinol Metab 27:359-71. 2013..Studies of disease-causing CASR mutations have provided insights into structure-function relationships and highlighted intra-molecular domains that are critical for ligand binding, intracellular signaling, and receptor trafficking. .. - MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)Ann M Kennedy
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Oxford, United Kingdom
J Clin Invest 115:2832-42. 2005..Thus, the F56S mutation results in deficiency of MMP13, which leads to the human skeletal developmental anomaly of SEMD(MO)... - A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemiaFadil M Hannan
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK
Clin Endocrinol (Oxf) 73:715-22. 2010.... - A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosisManuel C Lemos
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Center for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom
J Clin Endocrinol Metab 90:5386-92. 2005..Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by the development of benign cartilage-capped tumors at the juxta-epiphyseal regions of long bones. HME is usually caused by mutations of EXT1 or EXT2... - Mouse models for inherited endocrine and metabolic disordersSian E Piret
Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford OX3 7LJ, UK
J Endocrinol 211:211-30. 2011..The advances that have been made in our understanding of the mechanisms of these human diseases by investigations of these mouse models are described... - Association between genotype and phenotype in uromodulin-associated kidney diseaseJonathan L Moskowitz
Renal Research Institute, 207 East 94th Street, New York, NY 10128, USA
Clin J Am Soc Nephrol 8:1349-57. 2013..This study explored genotype-phenotype correlations by examining the relationship between the type of UMOD mutation and the age at onset of ESRD... - Genetics of hypercalciuric nephrolithiasis: renal stone diseaseMichael J Stechman
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UK
Ann N Y Acad Sci 1116:461-84. 2007..These studies have provided valuable insights into the renal tubular pathways that regulate calcium reabsorption and predispose to kidney stones and bone disease... - Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1Fadil M Hannan
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford, OX3 7LJ, UK
Eur J Endocrinol 158:265-71. 2008..Serum FGF23 and 1,25(OH)2D3 were found to be reliable biomarkers for OOM. In addition, the demonstration of lymphatics in the PMTMCT helps to distinguish this tumour from most typical benign haemangiomas... - Transcription factors in parathyroid development: lessons from hypoparathyroid disordersIrina V Grigorieva
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford, United Kingdom
Ann N Y Acad Sci 1237:24-38. 2011..These studies have revealed important roles for a number of transcription factors, which include Tbx1, Gata3, Gcm2, Sox3, Aire1 and members of the homeobox (Hox) and paired box (Pax) families... - Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cagesMichael J Stechman
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Oxford, UK
Lab Anim 44:218-25. 2010..These variations due to strain and gender have significant implications for selecting the appropriate strain upon which to breed genetically-altered models of metabolic and renal disease... - Multiple endocrine neoplasiaR V Thakker
Molecular Endocrinology Group, Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK
Horm Res 56:67-72. 2001..Specific mutations of c-ret have been identified for each of the three MEN2 variants and mutational analysis has been used in the diagnosis and management of patients and families with the MEN2 variants... - Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumoursK J Bradley
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, OCDEM, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
Clin Endocrinol (Oxf) 64:299-306. 2006..2. HRPT2 encodes a 531 amino acid protein, parafibromin, which interacts with human homologues of the yeast Paf1 complex... - Mutant prolactin receptor and familial hyperprolactinemiaPaul J Newey
From the Academic Endocrine Unit, Radcliffe Department of Medicine P J N, C M G, R V T, Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine C B W, P K, Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology M B, P A M, and the Structural Genomics Consortium C B, University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow S J C, M A, R S D all in the United Kingdom
N Engl J Med 369:2012-20. 2013..Thus, the familial hyperprolactinemia appears to be due to a germline, loss-of-function mutation in PRLR, resulting in prolactin insensitivity. .. - Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practicePaul J Newey
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Churchill Hospital, Oxford, United Kingdom
Endocr Pract 17:8-17. 2011..To review and assess the role of MEN1 mutational analysis in clinical practice... - Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)S E Fisher
Biochemistry Department, University of Oxford, United Kingdom
Genomics 29:598-606. 1995.... - A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutationChristopher T Esapa
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, United Kingdom
J Bone Miner Res 27:413-28. 2012..Thus, an ENU mouse model with a Ser1386Pro mutation of the Col2a1 C-propeptide domain that results in abnormal collagen processing and phenotypic features consistent with SEDC and secondary osteoarthritis has been established... - 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)S E Fisher
Biochemistry Department, University of Oxford, UK
Hum Mol Genet 3:2053-9. 1994..On the basis of the expression pattern, proposed function and deletion mapping, hCIC-K2 is a strong candidate for Dent's disease... - Parafibromin--functional insightsP J Newey
The Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford OX3 7LJ, UK
J Intern Med 266:84-98. 2009..The parafibromin/PAF1 complex regulates genes involved in cell growth and survival, and via these, parafibromin plays a pivotal role in embryonic development and survival of adults... - Genetics of neuroendocrine and carcinoid tumoursP D Leotlela
Nuffield Department of Medicine, University of Oxford, Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, Oxford OX3 7LD, UK
Endocr Relat Cancer 10:437-50. 2003..Thus the development and progression of NETs is associated with specific genetic abnormalities that indicate the likely involvement of different molecular pathways... - Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13Joanna M Stacey
Molecular Endocrinology Group, Nuffield Department of Medicine, Botnar Research Center, University of Oxford, Oxford, United Kingdom OX3 7LD
J Clin Endocrinol Metab 88:464-70. 2003..These results will facilitate the characterization of this gene regulating urate metabolism... - Kidney stones: a fetal origins hypothesisSarah A Howles
Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK Radcliffe Department of Medicine, University of Oxford, Oxford, UK
J Bone Miner Res 28:2535-9. 2013.... - Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationshipFiona Wu
Molecular Endocrinology Group, Nuffield Department of Clinical Medicine, University of Oxford, Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, Oxford, United Kingdom
Kidney Int 63:1426-32. 2003..The x-ray crystal structures of two bacterial chloride channels (CLCs) have recently been established, thereby allowing us to construct a model for hCLC-5 and further examine the role of its mutations... - Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approachAndrew F Scarsbrook
Department of Radiology, Churchill Hospital, Oxford Radcliffe NHS Trust, Oxford, England
Radiographics 26:433-51. 2006..Finally, an understanding of the spectrum of disease and of the manifestations of each component is crucial for accurate detection, staging, and surveillance in this diverse patient group... - Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1Jeremy J O Turner
Molecular Endocrinology Group, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU UK
J Clin Endocrinol Metab 87:2688-93. 2002..6% of all mutations, a finding that indicates an approach for identifying the widely diverse MEN1 mutations... - Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndromeK J Bradley
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UK
J Intern Med 257:18-26. 2005..Thus, the results of our analysis expand the spectrum of HPT-JT-associated tumours to include uterine tumours, and these may account for the decreased reproductive fitness in females from HPT-JT families... - Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesisA A Pannett
Molecular Endocrinology Group, Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom OX3 9DU
J Clin Endocrinol Metab 86:4371-4. 2001.... - Mutational analysis in X-linked spondyloepiphyseal dysplasia tardaP T Christie
Molecular Endocrinology Group, Nuffield Department of Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DU, United Kingdom
J Clin Endocrinol Metab 86:3233-6. 2001..The results of our study expand the spectrum of SEDLIN mutations associated with SEDT, and this will help to elucidate further the role of this novel protein in the etiology of this form of osteochondrodysplasia... - Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidismK J Bradley
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
J Med Genet 42:e51. 2005..Thus, these FIHP patients are utilising a ga-ag splice site pair, which until recently was considered to be incompatible with splicing but is now known to occur as a rare (<0.02%) normal splicing variant... - X-linked hypophosphatemia attributable to pseudoexons of the PHEX geneP T Christie
Molecular Endocrinology, Nuffield Department of Medicine, Level 7, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, United Kingdom
J Clin Endocrinol Metab 86:3840-4. 2001..This represents the first report of PHEX pseudoexons and reveals further the diversity of genetic abnormalities causing X-linked hypophosphatemia... - The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindredB M Cavaco
MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
QJM 94:213-22. 2001..A new Portuguese kindred with the HPT-JT syndrome that maps to chromosome 1q25-q31 has been identified, and these findings will help in the further characterization of this inherited disorder... - Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidismA A J Pannett
MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
Clin Endocrinol (Oxf) 58:639-46. 2003..We have explored these possibilities in seven families in whom primary hyperparathyroidism occurred as the sole endocrinopathy... - 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)A Courseaux
LGMCH, CNRS URA 1462, Nice, France
Genomics 37:354-65. 1996..Two critical recombinants identified in two affected cases placed the MEN1 gene in an approximately 2-Mb region around PYGM, flanked by D11S1883 and D11S449... - Characterization of mutations in patients with multiple endocrine neoplasia type 1J H Bassett
MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Imperial School of Medicine, Hammersmith Hospital, London W12 0NN, United Kingdom
Am J Hum Genet 62:232-44. 1998..These results provide the basis for a molecular-genetic screening approach that will supplement the clinical evaluation and genetic counseling of members of MEN1 families... - Disorders of the calcium-sensing receptorR V Thakker
MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
Biochim Biophys Acta 1448:166-70. 1998..3-q21 is likely to be one of several, as two other loci for FBH have been located on chromosome 19p and 19q13. Cloning and characterisation of these genes will help to further elucidate the mechanisms regulating extracellular calcium... - Mapping of the gene encoding the B56 beta 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)S A Forbes
MRC Molecular Endocrinology Group, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
Hum Genet 100:481-5. 1997..However, our precise localisation of PP2A-B56 beta to this region of 11q13 may help in elucidating the basis for other disease genes mapping to this generich region... - Menin interacts directly with the homeobox-containing protein PemI H Lemmens
Laboratory for Molecular Oncology and Flanders Interuniversity Institute for Biotechnology, Center for Human Genetics, KU Leuven, Herestraat 49, Leuven, B 3000, Belgium
Biochem Biophys Res Commun 286:426-31. 2001..Thus, our study has identified that menin interacts with Pem, and the high expression of these proteins in the testis suggests a role in spermatogenesis... - Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31J Szabo
Section of Endocrinology, Veterans Affairs Medical Center, Salt Lake City, UT, USA
Am J Hum Genet 56:944-50. 1995..Our data establish that HRPT2, an endocrine tumor gene on the long arm of chromosome 1, is responsible for the HPT-JT syndrome but not for the classical hereditary Wilms tumor syndrome... - Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysisA P Read
Hum Genet 73:267-70. 1986..No marker has yet been found which shows no recombination with HPDR... - HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndromeJ D Carpten
Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 32:676-80. 2002..Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors... - Determination of a molecular map position for Hyp using a new interspecific backcross produced by in vitro fertilizationG Kay
Section of Comparative Biology, MRC Clinical Research Centre, Harrow, Middlesex, United Kingdom
Genomics 11:651-7. 1991..52 +/- 1.4 and that between Hyp and Cbx-rs1 was 1.98 +/- 1.39. Thus closely linked flanking markers for the Hyp locus that will facilitate the molecular characterization of the gene itself have been defined... - Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletionsB M Cavaco
Centro de Investigação de Patobiologia Molecular e Serviço de Endocrinologia, Instituto Portugues de Oncologia de Francisco Gentil, Rua Professor Lima Basto, 1099 023 Lisbon, Portugal
Clin Endocrinol (Oxf) 56:465-73. 2002..Twenty-six mutant-gene carriers were identified, 6 of which were asymptomatic... - Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEXM Grieff
Departments of Molecular Microbiology and Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
Genomics 44:227-31. 1997..SpS consists of 11 exons spread over 54 kb. The definition of the locations of SpS and the putative promoter region of PEX will facilitate functional analysis of these genes... - A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challengesC P Burren
Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, United Bristol Healthcare NHS Trust, Bristol, Avon, UK
J Pediatr Endocrinol Metab 18:689-99. 2005..Optimal management of ADHH is difficult and we recommend judicious treatment to avoid an increased risk of nephrocalcinosis... - Expression and chromosomal localization of the Requiem geneT G Gabig
Department of Medicine, Division of Hematology and Oncology, Indiana University School of Medicine, Indianapolis, Indiana, USA
Mamm Genome 9:660-5. 1998..The gene is located in the proximal region of mouse Chromosome (Chr) 19. In the homologous human region at 11q13, it is located at about 150 kb centromeric from MLK3... - A putative human zinc-finger gene (ZFPL1) on 11q13, highly conserved in the mouse and expressed in exocrine pancreas. The European Consortium on MEN 1J W Hoppener
Department of Internal Medicine, Utrecht University Hospital, The Netherlands
Genomics 50:251-9. 1998..This paper presents the full-length cDNA sequence for this gene, its genomic structure and chromosomal orientation, and expression studies by Northern blot hybridization and RNA in situ hybridization... - 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 MEN1I Lemmens
Genomics 44:94-100. 1997..These results represent a valuable transcriptional map of chromosome 11q13 that will help in the search for disease genes in this region... - GATA3 haplo-insufficiency causes human HDR syndromeH Van Esch
Laboratory for Molecular Oncology, Centre for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Belgium
Nature 406:419-22. 2000..These results show that GATA3 is essential in the embryonic development of the parathyroids, auditory system and kidneys, and indicate that other GATA family members may be involved in the aetiology of human malformations... - Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)S E Lloyd
MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom
J Clin Invest 99:967-74. 1997..In addition, the mutational screening of CLCN5 by SSCP will help to supplement the clinical evaluation of the annual urinary screening program for this disorder... - Genetic contribution to bone metabolism, calcium excretion, and vitamin D and parathyroid hormone regulationD Hunter
Twin Research and Genetic Epidemiology Unit, St. Thomas' Hospital, London, United Kingdom
J Bone Miner Res 16:371-8. 2001..The genes controlling bone hormones and markers are likely to be useful therapeutic and diagnostic targets... - Chromosomal aberrations in sporadic pituitary tumorsK Trautmann
Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany
Int J Cancer 91:809-14. 2001..These results reveal a nonrandom pattern of chromosomal alterations in pituitary tumors, in particular gains of entire chromosomes, and this may contribute to the development of such neoplasms... - A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidismD B Parkinson
Division of Molecular Medicine, MRC Clinical Research Centre, Harrow, Middlesex, UK
Nat Genet 1:149-52. 1992..The mutation resulted in exon skipping with a loss of exon 2, which encodes the initiation codon and the signal peptide, thereby causing parathyroid hormone deficiency... - Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22M A Pook
MRC Clinical Sciences Centre, Royal Postgraduate Medical School, London, UK
Hum Mol Genet 2:2129-34. 1993..22, and a further characterisation of this gene will help to elucidate the factors controlling proximal renal tubular function and the development of kidney stones... - Studies of the murine homolog of the multiple endocrine neoplasia type 1 (MEN1) gene, men1J H Bassett
MRC Molecular Endocrinology Group, MRC Clinical Sciences Center, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom
J Bone Miner Res 14:3-10. 1999..g., men1 expression was higher in testicular Sertoli cells than in germ cells. Thus, the mouse men1 gene and the basis of alternative transcripts have been defined, and these will help to facilitate studies of a mouse model...