Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.S141L
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TRPM6

NM_017662.5:p.S141L

Associated Papers

The odyssey of the TR(i)P journey to the cellular membrane.

Rivera B et al.

Frontiers in Cell and Developmental Biology, 2024

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.

Han Y et al.

Frontiers in Pediatrics, 2022

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.

Willows J et al.

F1000research, 2019

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia.

Katayama K et al.

Brain & Development, 2015

Novel Alleles of gon-2, a C. elegans Ortholog of Mammalian TRPM6 and TRPM7, Obtained by Genetic Reversion Screens.

Lambie EJ et al.

Plos One, 2015

TRPM channels and magnesium in early embryonic development.

Komiya Y et al.

The International Journal of Developmental Biology, 2015

TRPM6.

Chubanov V et al.

Handbook of Experimental Pharmacology, 2014

TRPM6 and TRPM7: A Mul-TRP-PLIK-cation of channel functions.

Runnels LW

Current Pharmaceutical Biotechnology, 2011

Transient receptor potential melastatin 6 knockout mice are lethal whereas heterozygous deletion results in mild hypomagnesemia.

Woudenberg-Vrenken TE et al.

Nephron. Physiology, 2011

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

Renal TRPathies.

Dietrich A et al.

Journal of the American Society of Nephrology : Jasn, 2010

The role of transient receptor potential channels in kidney disease.

Woudenberg-Vrenken TE et al.

Nature Reviews. Nephrology, 2009

Structure-functional intimacies of transient receptor potential channels.

Latorre R et al.

Quarterly Reviews of Biophysics, 2009

TRP channels in kidney disease.

Hsu YJ et al.

Biochimica Et Biophysica Acta, 2007

TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.

Schlingmann KP et al.

Biochimica Et Biophysica Acta, 2007

Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6.

Chubanov V et al.

The Journal of Biological Chemistry, 2007

TRPM6: A Janus-like protein.

Bödding M

Handbook of Experimental Pharmacology, 2007

Functional characterization of homo- and heteromeric channel kinases TRPM6 and TRPM7.

Li M et al.

The Journal of General Physiology, 2006

Genetic background of HSH in three Polish families and a patient with an X;9 translocation.

Jalkanen R et al.

European Journal of Human Genetics : Ejhg, 2006

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

Schlingmann KP et al.

Journal of the American Society of Nephrology : Jasn, 2005

A critical role of TRPM channel-kinase for human magnesium transport.

Schlingmann KP et al.

The Journal of Physiology, 2005

Emerging roles of TRPM6/TRPM7 channel kinase signal transduction complexes.

Chubanov V et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2005

Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.

Chubanov V et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

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

Schlingmann KP et al.

Nature Genetics, 2002

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