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    • Multiple Endocrine
    • Rajesh V Thakker
    • Rajesh V Thakker: Influence Statistics

      Rajesh V Thakker

      Rajesh V Thakker

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      Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, UK | Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology & ...

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      Rajesh V Thakker:Expert Impact

      Concepts for whichRajesh V Thakkerhas direct influence:Multiple endocrine,Multiple endocrine neoplasia,Endocrine neoplasia,Neoplasia type,Gata3 mutations,Type 1,Mutational analysis,Primary hyperparathyroidism.

      Rajesh V Thakker:KOL impact

      Concepts related to the work of other authors for whichfor which Rajesh V Thakker has influence:Multiple endocrine,Primary hyperparathyroidism,Neoplasia type,Men1 gene,Parathyroid carcinoma,Thyroid cancer,Pituitary adenomas.

      KOL Resume for Rajesh V Thakker

      Year
      2022

      Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, UK

      R Thakker, OCDEM, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom of Great Britain and Northern Ireland

      2021

      Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford, UK

      University of Oxford, Oxford, United Kingdom

      2020

      Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Oxford, UK.

      Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford, UK

      R Thakker, NUFFIELD DEPARTMENT OF CLINICAL MEDICINE, UNIVERSITY OF OXFORD, OXFORD, OX3 7LJ, United Kingdom of Great Britain and Northern Ireland.

      2019

      Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, United Kingdom

      Oxford NIHR Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK

      2018

      R Thakker, University of Oxford, Radcliffe Department of Medicine, Oxford Centre for Diabetes Endocrinology and Metabolism, Oxford, United Kingdom of Great Britain and Northern Ireland.

      Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Churchill Hospital, Headington, Oxford OX3 7JL, UK

      University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, United Kingdom

      2017

      Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford, England, United Kingdom.

      Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LE, United Kingdom

      2016

      Academic Endocrine Unit Radcliffe Department of Medicine OCDEM (Oxford Centre for Diabetes, Endocrinology and Metabolism) The Churchill Hospital University of Oxford Headington Oxford UK

      From the, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom,

      University of Oxford Oxford, United Kingdom.

      Director of Research and Physician-in-Chief Emeritus, Harvard Medical School, Boston, Massachusetts

      Senior Vice President and Dean of the Medical Faculty, Cedars-Sinai Health System, Los Angeles, California

      2015

      Academic Endocrine Unit, Radcliffe Department of Clinical Medicine, University of Oxford, UK, and Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK

      University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, Oxford, United Kingdom

      2014

      Radcliffe Department of Medicine, Academic Endocrine Unit, University of Oxford, OCDEM (Oxford Centre for Diabetes, Endocrinology and Metabolism), The Churchill Hospital Headington

      Academic Endocrine Unit (A.R., M.A.N., F.M.H., S.A.H., C.M.G., R.V.T.),, Oxford OX3 7LJ, United Kingdom

      Sign-in to see all concepts, it's free!
      Sample of concepts for which Rajesh V Thakker is among the top experts in the world.
      Concept World rank
      10 base reads #1
      pair rodentia uromodulin #1
      men2 variants heterozygosity #1
      hyperparathyroidism‐jaw #1
      cdnk1b #1
      npsp795 increases #1
      neuroendocrine carcinoid tumours #1
      giopbone #1
      1q22‐q31 #1
      fbhh1 fbhh2 #1
      men1 mutational #1
      spermine synthase xlh #1
      function gα11 mutants #1
      d1s254 #1
      pluriglandular #1
      fibril moduli #1
      giop mice #1
      lung nets loss #1
      men1 adrenocortical tumors #1
      mutations hclc5 #1
      calcilytic therapy #1
      ala986ser #1
      missense gata3 mutation #1
      his188arg #1
      cdc73 mutations majority #1
      ocrl1 clc4 #1
      studies clc5 distribution #1
      casr ap2σ mutations #1
      carcinoid tumours nets #1
      mutations gα11 mutations #1
      suspected aps1 #1
      men1l rip2creer #1
      interface homodimeric hclc5 #1
      recessive hypoparathyroidism #1
      mice normal plasma #1
      uakd families #1
      aire mutations objective #1
      men1 reported #1
      prognostic marker1 #1
      ectopic calcification hypocalcemia #1
      fjhn probands #1
      clc5 cofilin #1
      129s6 svev females #1
      mutations gα11 loss #1
      lung nets development #1
      calcium homeostasis human #1
      calcimimetic drugs #1
      mutations dent #1
      calcium chromosome #1
      microtubular transport #1
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      Prominent publications by Rajesh V Thakker

      KOL-Index: 16696

      Familial multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disorder characterized by the combined occurrence of tumors of the parathyroid glands, the pancreas, and the pituitary gland. Pancreatic tumors have previously been shown to be associated with the loss of alleles on chromosome 11; we therefore looked for similar genetic alterations in specimens of parathyroid tumors, which are the most common feature of MEN-1. We obtained parathyroid tumors and peripheral-blood ...

      Known for Parathyroid Tumors | Chromosome 11 | Patients Men1 | Endocrine Neoplasia | Human Pair
      KOL-Index: 14869

      BACKGROUND: Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. Type 1 is due to loss-of-function mutations of the calcium-sensing receptor, a guanine nucleotide-binding protein (G-protein)-coupled receptor that signals through the G-protein subunit α11 (Gα11). Type 3 is associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which result in altered calcium-sensing receptor endocytosis. We ...

      Known for Function Mutations | Protein Subunit | Type 2 | Unrelated Patients | Hypercalcemia Hypocalcemia
      KOL-Index: 14824

      The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. The C-terminal zinc finger (ZnF2) binds DNA, whereas the N-terminal finger (ZnF1) stabilizes this DNA binding and interacts with other zinc finger proteins, such as the Friends of GATA (FOG). We have investigated seven HDR probands and their families for GATA3 abnormalities and have identified two nonsense ...

      Known for Gata3 Mutations | Renal Dysplasia | Hypoparathyroidism Deafness | Dna Binding | Zinc Finger
      KOL-Index: 14383

      Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of tumors of the parathyroids, pancreas, and anterior pituitary. The MEN1 gene, which was identified in 1997, consists of 10 exons that encode a 610-amino acid protein referred to as menin. Menin is predominantly a nuclear protein that has roles in transcriptional regulation, genome stability, cell division, and proliferation. Germline mutations usually result in MEN1 or ...

      Known for Multiple Endocrine | Men1 Mutations | Type 1 | Deletion Codons | Molecular Genetics
      KOL-Index: 14300

      BACKGROUND/AIMS: Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2). OCRL1 mutations also cause the oculocerebrorenal syndrome of Lowe.

      METHODS: Dent patients with normal sequence for CLCN5 were sequenced for mutations in OCRL1. By analyzing these and all other OCRL1 mutations reported, a model relating OCRL1 mutations to the resulting disease (Dent 2 or Lowe's) was developed.

      RESULTS: Six boys with Dent disease had novel ...

      Known for Ocrl1 Mutations | Dent Disease | Phenotypic Variability | Lowe Syndrome | Renal Phenotype
      KOL-Index: 14064

      Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. Four major forms of MEN, which are autosomal dominant disorders, are recognized and referred to as: MEN type 1 (MEN1), due to menin mutations; MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transfection (RET) protoncogene; MEN3 (previously MEN2B) due to RET mutations; and MEN4 due to ...

      Known for Neoplasia Type | Multiple Endocrine | Occurrence Tumors | Men1 Menin | Single Patient
      KOL-Index: 12814

      Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum PTH concentrations and hypercalciuria. Negative allosteric CaSR modulators, known as calcilytics, have been shown to normalize the gain-of-function associated with ADH-causing CaSR mutations in vitro and represent a potential targeted therapy for ADH1. However, the effectiveness of ...

      Known for Mouse Model | Hypocalcemia Type | Gain Function | Hek293 Cells | Sensing Receptor
      KOL-Index: 12264

      The annual urinary screening of Japanese children above 3 yr of age has identified a progressive proximal renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to three X-linked proximal renal tubular disorders that are due to mutations in the renal chloride channel gene, CLCN5. We have investigated four unrelated Japanese ...

      Known for Japanese Children | Chloride Channel | Clcn5 Mutations | Molecular Weight | Sequence Analysis
      KOL-Index: 11774

      Renal tubular reabsorption is important for extracellular fluid homeostasis and much of this occurs via the receptor-mediated endocytic pathway. This pathway is disrupted in Dent's disease, an X-linked renal tubular disorder that is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. Dent's disease is due to mutations of CLC-5, a chloride/proton antiporter, expressed in endosomes and apical membranes of renal tubules. Loss of CLC-5 ...

      Known for Dents Disease | Plasma Membrane | Mediated Endocytosis | Renal Tubules | Kinesin Member
      KOL-Index: 11589

      BACKGROUND: The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular calcium concentrations, and mutations that result in a loss of function of the receptor are associated with familial hypocalciuric hypercalcemia. Mutations involving a gain of function have been associated with hypocalcemia in two kindreds. We examined the possibility that the latter type of mutation may result in a phenotype of familial hypocalcemia with ...

      Known for Sensing Receptor | Hypercalciuria Mutations | Familial Syndrome | Sequence Calcium | Hypocalcemia Hypoparathyroidism
      KOL-Index: 11485

      The syndrome of hereditary hyperparathyroidism and jaw tumors (HPT-JT) is characterized by inheritance, in an autosomal dominant pattern, of recurrent parathyroid adenomas, fibro-osseous tumors of the mandible and/or maxilla, Wilms tumor, and parathyroid carcinoma. This syndrome is clinically and genetically distinct from other endocrine neoplasia syndromes and appears to result from mutation of an endocrine tumor gene designated "HRPT2." We studied five HPT-JT families (59 persons, 20 ...

      Known for Tumor Syndrome | Hereditary Hyperparathyroidism | Chromosome 1 | Loss Heterozygosity | Jaw Neoplasms
      KOL-Index: 11444

      OBJECTIVE: Mutations of the DAX1 gene (Dosage-sensitive sex reversal-Adrenal hypoplasia congenita critical region on the X chromosome gene 1), which encodes a novel orphan nuclear receptor, have been identified in patients with X-linked adrenal hypoplasia congenita (AHC) and hypogonadotrophic hypogonadism (HHG). We have investigated two kindreds with AHC and HHG for DAX1 mutations.

      METHODS: Two kindreds with five affected males, four carrier females and four unaffected males were ...

      Known for Dax1 Mutations | Adrenal Hypoplasia | Hypogonadotrophic Hypogonadism | Ahc Hhg | Missense Receptors
      KOL-Index: 11371

      The kidney is a major organ for uptake of the thyroid hormone thyroxine (T(4)) and its conversion to the active form, triiodothyronine. In the plasma, one of the T(4) carriers is transthyretin (TTR). In the present study we observed that TTR, the transporter of both T(4) and retinol-binding protein, binds to megalin, the multiligand receptor expressed on the luminal surface of various epithelia including the renal proximal tubules. In the kidney, megalin plays an important role in ...

      Known for Renal Uptake | Ttr Megalin | Binding Proteins | Kidney Tubules | Thyroxine Retinol
      KOL-Index: 11343

      Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other ...

      Known for Dent Disease | Human Kidney | Clcn5 Patients | Chloride Channels | Fanconi Syndrome
      KOL-Index: 11321

      A classical twin study was performed to assess the relative contribution of genetic and environmental factors to bone metabolism, calcium homeostasis, and the hormones regulating them. It was examined further whether the genetic effect is menopause dependent. The subjects were 2136 adult twins (98.3% female): 384 monozygotic (MZ) and 684 dizygotic (DZ) twin pairs. The intraclass correlations were calculated, and maximum likelihood model fitting was used to estimate genetic and ...

      Known for Bone Metabolism | Calcium Excretion | Parathyroid Hormone | Genetic Contribution | Dizygotic Twins

      Key People For Multiple Endocrine

      Top KOLs in the world
      #1
      Stephen J Marx∘∘
      multiple endocrine men1 gene primary hyperparathyroidism
      #2
      Samuel A Wells
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      #3
      Rajesh V Thakker
      multiple endocrine neoplasia type mutational analysis
      #4
      Britt M Skogseid
      multiple endocrine men1 gene neoplasia type
      #5
      Maria Luisa Brandi
      multiple endocrine estrogen receptor postmenopausal women
      #6
      Bruce Anthony John Ponder
      breast cancer multiple endocrine neoplasia type

      Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, UK | Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford OX3 7LJ, U

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