About: Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

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About: Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia Goto Sponge NotDistinct Permalink

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scientific article (publication date: June 2002)

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rdf:type	Item
description	articolo scientifico (it) artículu científicu espublizáu en 2002 (ast) vědecký článek publikovaný v roce 2002 (cs) مقالة علمية (نشرت في يونيو 2002) (ar) vedecký článok (publikovaný 2002-06) (sk) наукова стаття, опублікована в червні 2002 (uk) 2002 թուականի Յունիսին հրատարակուած գիտական յօդուած (hyw) 2002 թվականի հունիսին հրատարակված գիտական հոդված (hy) wetenschappelijk artikel (gepubliceerd in 2002-06) (nl) article scientifique publié en 2002 (fr) scientific article (publication date: June 2002) (en) im Juni 2002 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28200829-7DBC2784-99C1-498F-8675-05063EBA39A0
publication date	2002-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28200829-3B328A1F-F22E-42F2-8804-483F8EC411CD
language of work or name	English
cites work	wds:Q28200829-093AE95C-9EBC-4C19-B8D0-207D3B2AF671 wds:Q28200829-430132D8-5CBB-458B-A1B0-40DEFE177AEA wds:Q28200829-430B0FC9-FC60-494E-87A4-C1CB50D8C937 wds:Q28200829-4ED1309D-BE7F-4E76-A788-D1A8703B53AD wds:Q28200829-5D269C18-EA87-4697-9C72-40C6896A98A1 wds:Q28200829-5FA18000-0FD4-4A27-8039-FA2560E7D1B9 wds:Q28200829-8221D78F-EAF6-4954-A483-7C3C8BB33302 wds:Q28200829-86982CA2-06CB-4C39-B613-CA9C30F305B3 wds:Q28200829-8BE204FC-0750-41DA-8C89-E3F851A97663 wds:Q28200829-912980C2-D2AC-40C0-9FC3-E7DE59EAAEEE wds:Q28200829-990A26C2-9E45-4C9F-921A-8064BD8B0016 wds:Q28200829-A93242A6-CB50-4C95-A933-97B17D860EDE wds:Q28200829-AD998009-EE40-40EB-B227-D224AE39DEB0 wds:Q28200829-C185F94A-941D-4DAC-B5B2-86FF50C2E0CB wds:Q28200829-CB319BB5-640A-400E-83FA-8CC3D4772C6B wds:Q28200829-D6327442-B635-46AB-B252-0077400740C1 wds:Q28200829-D85C4DB6-C50D-4D8D-AC33-F2B5B3B3AFB9 wds:Q28200829-EF797AF0-164A-4BE5-AE2E-46B9188C21D3 wds:Q28200829-F9AC3BE0-C33C-4F81-8F50-7B4A38CD8FD6
cites work	Studies in primary hypomagnesaemia: evidence for defective carrier-mediated small intestinal transport of magnesium Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family Magnesium transport in the renal distal convoluted tubule Identification of a new class of protein kinases represented by eukaryotic elongation factor-2 kinase Magnesium deficiency: pathophysiologic and clinical overview TRP-PLIK, a bifunctional protein with kinase and ion channel activities LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability Alpha-kinases: a new class of protein kinases with a novel catalytic domain Familial hypomagnesemia with hypercalciuria and nephrocalcinosis Hypomagnesaemia of hereditary renal origin Primary infantile hypomagnesaemia; report of two cases and review of literature Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint A screening test for hyperuricosuria Clinical presentation and outcome in primary familial hypomagnesaemia Familial hypomagnesaemia with secondary hypocalcaemia: a new case that indicates autosomal recessive inheritance Familial hypomagnesaemia with secondary hypocalcaemia--autosomal or X-linked inheritance? Primary idiopathic hypomagnesemia in two female siblings
author name string	wds:Q28200829-12118464-C0AB-401C-B4DC-07B762A4CD34 wds:Q28200829-4298B203-82DA-4173-8782-5DE56F29C069 wds:Q28200829-85B922E9-6AE2-431E-AB77-F25D723DF816 wds:Q28200829-863F02E4-DF95-4980-824F-43208E28B6BA wds:Q28200829-8BEFB696-67DD-4589-A87C-67F28F7A1AEE wds:Q28200829-B6708673-1869-4178-B8F2-3079AAAE0207 wds:Q28200829-BE6232D2-FEBB-490D-A9BD-EFA8E829CE7D wds:Q28200829-EFB73416-DB9D-46C9-8EB7-BB661214A223 wds:Q28200829-F930D569-606B-49FD-87F8-954C3BA47221 wds:Q28200829-FA7F11BC-87C1-43E6-B984-96F1095794DA wds:Q28200829-FEA6B2C1-C206-4C5B-8153-9E612E6F8C07
OpenCitations bibliographic resource ID	wds:Q28200829-5A304583-25DA-4DAD-86EF-9D1C9A9AB573
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/432551
author name string	Peter Meyer Val C Sheffield Rivka Carmi Daniel Landau Maria Tsolia Zvi Borochowitz Hanna Shalev Melanie Barbara Boettger Roxanne Y Walder Gretel E Beck Richard K Englehardt
OpenCitations bibliographic resource ID	432551
rdfs:label	Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (en) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (nl) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (ast)
skos:prefLabel	Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (en) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (nl) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (ast)
name	Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (en) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (nl) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (ast)
title	wds:Q28200829-8C6FBC75-2CA7-408D-A2C8-DA674C030584
title	Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (en)
page(s)	wds:Q28200829-E3793432-9137-404B-A6C4-256CA986114B
page(s)	171-4
instance of	wds:Q28200829-C76D84F6-1943-408E-93D7-5CC8FBFF2791
instance of	scholarly article
PubMed ID	wds:Q28200829-803E338E-0F01-4202-939F-49212857E519
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/12032570
PubMed ID	12032570
published in	wds:Q28200829-A8298177-FA4B-4B82-AC09-F7C88ECFF5CB
published in	Nature Genetics

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