A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemiaComparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5Expression and cloning of the human X-linked hypophosphatemia gene cDNAMMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidismCharacterization of mutations in patients with multiple endocrine neoplasia type 1.Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumoursMultiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosisOCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variabilityMapping 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)Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's diseaseMultiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the geneGastroenteropancreatic neuroendocrine tumoursMultiple endocrine neoplasia type 1 (MEN1)Anatomic and functional imaging of metastatic carcinoid tumorsMultiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosisA mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutationGata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse modelsExpression and chromosomal localization of the Requiem geneParafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult micePresentation of Hypoparathyroidism: Etiologies and Clinical Features.Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemiaMEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas.Studies of the murine homolog of the multiple endocrine neoplasia type 1 (MEN1) gene, men1.Epidemiology and Diagnosis of Hypoparathyroidism.SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.Genetic disorders of renal electrolyte transport.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.A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture riskGuidelines for diagnosis and therapy of MEN type 1 and type 2.HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice.Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients.Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.Dent's disease.
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Professor Rajesh Thakker FMedS ...... Medicine, University of Oxford
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1954-08-27T00:00:00Z