Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

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dc.contributor.authorSchlingmann, K. P.en
dc.contributor.authorWeber, S.en
dc.contributor.authorPeters, M.en
dc.contributor.authorNiemann Nejsum, L.en
dc.contributor.authorVitzthum, H.en
dc.contributor.authorKlingel, K.en
dc.contributor.authorKratz, M.en
dc.contributor.authorHaddad, E.en
dc.contributor.authorRistoff, E.en
dc.contributor.authorDinour, D.en
dc.contributor.authorSyrrou, M.en
dc.contributor.authorNielsen, S.en
dc.contributor.authorSassen, M.en
dc.contributor.authorWaldegger, S.en
dc.contributor.authorSeyberth, H. W.en
dc.contributor.authorKonrad, M.en
dc.date.accessioned2015-11-24T19:12:36Z
dc.date.available2015-11-24T19:12:36Z
dc.identifier.issn1061-4036-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/21089
dc.rightsDefault Licence-
dc.subjectAdulten
dc.subjectFemaleen
dc.subjectHaplotypesen
dc.subjectHumansen
dc.subjectHypocalcemia/etiology/*geneticsen
dc.subjectInfanten
dc.subjectInfant, Newbornen
dc.subjectIon Channels/*genetics/physiologyen
dc.subjectMagnesium/*blooden
dc.subjectMaleen
dc.subjectMolecular Sequence Dataen
dc.subjectMultigene Family/geneticsen
dc.subject*Mutationen
dc.subjectPedigreeen
dc.subjectSequence Analysis, DNAen
dc.subjectTRPM Cation Channelsen
dc.titleHypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene familyen
heal.abstractMagnesium is an essential ion involved in many biochemical and physiological processes. Homeostasis of magnesium levels is tightly regulated and depends on the balance between intestinal absorption and renal excretion. However, little is known about specific proteins mediating transepithelial magnesium transport. Using a positional candidate gene approach, we identified mutations in TRPM6 (also known as CHAK2), encoding TRPM6, in autosomal-recessive hypomagnesemia with secondary hypocalcemia (HSH, OMIM 602014), previously mapped to chromosome 9q22 (ref. 3). The TRPM6 protein is a new member of the long transient receptor potential channel (TRPM) family and is highly similar to TRPM7 (also known as TRP-PLIK), a bifunctional protein that combines calcium- and magnesium-permeable cation channel properties with protein kinase activity. TRPM6 is expressed in intestinal epithelia and kidney tubules. These findings indicate that TRPM6 is crucial for magnesium homeostasis and implicate a TRPM family member in human disease.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1038/ng889-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/12032568-
heal.journalNameNat Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2002-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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