Rajesh V Thakker

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. pmc A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation
    Sian 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
  2. pmc Calcium-sensing receptor: Role in health and disease
    R V Thakker
    Nuffield Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Headington, Oxford, OX3 7LJ, UK
    Indian J Endocrinol Metab 16:S213-6. 2012
  3. pmc Multiple endocrine neoplasia type 1
    R V Thakker
    Nuffield Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Headington, Oxford, OX3 7LJ, UK
    Indian J Endocrinol Metab 16:S272-4. 2012
  4. pmc Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
    Rajesh V Thakker
    Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom Electronic address
    Mol Cell Endocrinol 386:2-15. 2014
  5. pmc Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development
    A Karunaratne
    Queen Mary University of London, School of Engineering and Material Sciences, Mile End Road, London, E1 4NS, UK
    Bone 51:553-62. 2012
  6. ncbi request reprint 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
  7. pmc Dent's disease
    Olivier Devuyst
    Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium
    Orphanet J Rare Dis 5:28. 2010
  8. ncbi request reprint Multiple endocrine neoplasia type 1
    R V Thakker
    Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, England
    Endocrinol Metab Clin North Am 29:541-67. 2000
  9. ncbi request reprint Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis
    R V Thakker
    Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, England, United Kingdom
    Kidney Int 57:787-93. 2000
  10. ncbi request reprint Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome
    R V Thakker
    Molecular Endocrinology Group, University of Oxford, John Radcliffe Hospital, Headington, Oxford, Oxon, UK
    Exp Nephrol 8:351-60. 2000

Detail Information

Publications107 found, 100 shown here

  1. pmc A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation
    Sian 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...
  2. pmc Calcium-sensing receptor: Role in health and disease
    R V Thakker
    Nuffield Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Headington, Oxford, OX3 7LJ, UK
    Indian J Endocrinol Metab 16:S213-6. 2012
    ..e. autoimmune) of hypoparathyroidism. Thus, abnormalities of the CaSR are associated with 4 hypercalcemic and 3 hypocalcemic disorders...
  3. pmc Multiple endocrine neoplasia type 1
    R V Thakker
    Nuffield Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Headington, Oxford, OX3 7LJ, UK
    Indian J Endocrinol Metab 16:S272-4. 2012
    ..Thus, it is recommended that MEN1 patients and their families should be cared for by multi-disciplinary teams comprising relevant specialists with experience in the diagnosis and treatment of patients with endocrine tumors...
  4. pmc Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
    Rajesh V Thakker
    Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom Electronic address
    Mol Cell Endocrinol 386:2-15. 2014
    ..MEN4 is caused by heterozygous mutations of CDNK1B which encodes the 196 amino-acid CDK1 p27Kip1, which is activated by H3K4 methylation. ..
  5. pmc Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development
    A Karunaratne
    Queen Mary University of London, School of Engineering and Material Sciences, Mile End Road, London, E1 4NS, UK
    Bone 51:553-62. 2012
    ....
  6. ncbi request reprint 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)...
  7. pmc Dent's disease
    Olivier 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...
  8. ncbi request reprint Multiple endocrine neoplasia type 1
    R 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...
  9. ncbi request reprint Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis
    R 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...
  10. ncbi request reprint Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome
    R 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...
  11. ncbi request reprint 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...
  12. ncbi request reprint Genetics of endocrine and metabolic disorders: parathyroid
    R 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
  13. ncbi request reprint Diseases associated with the extracellular calcium-sensing receptor
    R 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...
  14. ncbi request reprint Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia
    Brian 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...
  15. ncbi request reprint Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease
    Fiona 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...
  16. doi request reprint Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
    Fadil 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...
  17. doi request reprint A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism
    Samantha 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...
  18. pmc Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2
    Irina 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...
  19. doi request reprint Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism
    Michael 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
    ....
  20. pmc Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia
    M 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...
  21. ncbi request reprint 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
    M 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...
  22. pmc CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease
    Anita 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...
  23. ncbi request reprint Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors
    Paul 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...
  24. doi request reprint An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess
    Liz 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. ..
  25. pmc 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
    Fadil 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...
  26. ncbi request reprint A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome
    Katherine 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...
  27. doi request reprint Proliferation rates of multiple endocrine neoplasia type 1 (MEN1)-associated tumors
    Gerard 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
    ....
  28. pmc Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
    M 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...
  29. pmc A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis
    Christopher 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...
  30. pmc SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1
    Jeshmi 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)...
  31. doi request reprint 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...
  32. doi request reprint Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21
    Sian 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...
  33. pmc An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
    Michael 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...
  34. doi request reprint Whole-exome sequencing studies of nonfunctioning pituitary adenomas
    Paul 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...
  35. pmc Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5
    Nellie 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
    ....
  36. ncbi request reprint Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
    Asif 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
    ....
  37. doi request reprint Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors
    Paul 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...
  38. ncbi request reprint Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density
    Brian 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...
  39. ncbi request reprint Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
    M 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
    ....
  40. pmc Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients
    Caroline 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
    ....
  41. pmc Genetic causes of hypercalciuric nephrolithiasis
    Michael 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...
  42. doi request reprint Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers
    Manuel 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...
  43. doi request reprint GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness
    Katherine 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...
  44. ncbi request reprint A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1
    Manuel 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...
  45. ncbi request reprint Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas
    Paul 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...
  46. pmc MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas
    Gerard 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...
  47. ncbi request reprint Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene
    Manuel 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...
  48. ncbi request reprint X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase
    M 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...
  49. pmc Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum
    Sian 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...
  50. ncbi request reprint Mutational Analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) Gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3)
    Angela Rogers
    Academic Endocrine Unit A R, M A N, F M H, S A H, C M G, R V T, Nuffield Department of Clinical Medicine, and Academic Endocrine Unit A R, M A N, F M H, S A H, C M G, R V T, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom Oxford Molecular Genetics Laboratory T C and Oxford Centre for Diabetes, Endocrinology, and Metabolism A B G, Churchill Hospital, Oxford OX3 7LJ, United Kingdom Department of Paediatric Endocrinology J A, C B, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom Department of Paediatric Endocrinology J A, Royal London Hospital, London E1 1BB, United Kingdom Department of Endocrinology J S B, Aberdeen Royal Infirmary, Aberdeen AB25 2ZN, United Kingdom Departments of Diabetes and Endocrinology G B and Clinical Genetics S V H, K S, St George s Hospital, London SW17 0RE,
    J Clin Endocrinol Metab 99:E1300-5. 2014
    ..Conclusion: The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that ADH3 may not occur or otherwise represents a rare hypocalcemic disorder. ..
  51. doi request reprint Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages
    Michael 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...
  52. ncbi request reprint Anatomic and functional imaging of metastatic carcinoid tumors
    Andrew 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...
  53. ncbi request reprint Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene
    Fadil 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...
  54. ncbi request reprint Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism
    Fadil 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. ..
  55. pmc 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)...
  56. ncbi request reprint A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia
    Fadil M Hannan
    Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK
    Clin Endocrinol (Oxf) 73:715-22. 2010
    ....
  57. doi request reprint Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1
    Fadil 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...
  58. ncbi request reprint A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis
    Manuel 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...
  59. ncbi request reprint Genetics of hypercalciuric nephrolithiasis: renal stone disease
    Michael 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...
  60. doi request reprint Mouse models for inherited endocrine and metabolic disorders
    Sian 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...
  61. pmc Association between genotype and phenotype in uromodulin-associated kidney disease
    Jonathan 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...
  62. doi request reprint Transcription factors in parathyroid development: lessons from hypoparathyroid disorders
    Irina 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...
  63. ncbi request reprint Multiple endocrine neoplasia
    R 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...
  64. ncbi request reprint Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours
    K 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...
  65. doi request reprint A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation
    Christopher 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...
  66. ncbi request reprint Mutant prolactin receptor and familial hyperprolactinemia
    Paul 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. ..
  67. ncbi request reprint Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice
    Paul 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...
  68. ncbi request reprint 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
    ....
  69. ncbi request reprint Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship
    Fiona 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...
  70. ncbi request reprint Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13
    Joanna 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...
  71. ncbi request reprint 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...
  72. doi request reprint Parafibromin--functional insights
    P 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...
  73. ncbi request reprint Genetics of neuroendocrine and carcinoid tumours
    P 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...
  74. pmc Kidney stones: a fetal origins hypothesis
    Sarah 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
    ....
  75. ncbi request reprint Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approach
    Andrew 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...
  76. ncbi request reprint Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1
    Jeremy 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...
  77. ncbi request reprint Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome
    K 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...
  78. ncbi request reprint Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda
    P 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...
  79. ncbi request reprint Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis
    A 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
    ....
  80. ncbi request reprint X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene
    P 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...
  81. pmc Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism
    K 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...
  82. pmc Characterization of mutations in patients with multiple endocrine neoplasia type 1
    J 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...
  83. ncbi request reprint Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism
    A 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...
  84. ncbi request reprint 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...
  85. ncbi request reprint Menin interacts directly with the homeobox-containing protein Pem
    I 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...
  86. ncbi request reprint 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...
  87. ncbi request reprint The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred
    B 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...
  88. ncbi request reprint Disorders of the calcium-sensing receptor
    R 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...
  89. ncbi request reprint Expression and chromosomal localization of the Requiem gene
    T 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...
  90. pmc Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31
    J 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...
  91. ncbi request reprint Chromosomal aberrations in sporadic pituitary tumors
    K 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...
  92. ncbi request reprint GATA3 haplo-insufficiency causes human HDR syndrome
    H 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...
  93. ncbi request reprint Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis
    A P Read
    Hum Genet 73:267-70. 1986
    ..No marker has yet been found which shows no recombination with HPDR...
  94. ncbi request reprint Genetic contribution to bone metabolism, calcium excretion, and vitamin D and parathyroid hormone regulation
    D 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...
  95. ncbi request reprint Determination of a molecular map position for Hyp using a new interspecific backcross produced by in vitro fertilization
    G 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...
  96. ncbi request reprint A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges
    C 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...
  97. ncbi request reprint Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions
    B 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...
  98. pmc Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies
    S J Scheinman
    Medical Research Council Molecular Medicine Group, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom
    J Clin Invest 91:2351-7. 1993
    ..22), and further characterization of this gene will help to elucidate the factors controlling renal tubular function and mineral homeostasis...
  99. ncbi request reprint 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
    J 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...
  100. ncbi request reprint Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX
    M 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...
  101. ncbi request reprint 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
    I 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...