Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hypocalcemia/genetics"'
Autor:
Inês Gameiro, Catarina Pinto Silva, Marta Machado, Carolina Cordinhã, Carmen do Carmo, Clara Gomes
Publikováno v:
Revista Portuguesa de Nefrologia e Hipertensão, Vol 37, Iss 4, Pp 231-233 (2023)
Hypomagnesemia type I is a rare autosomal recessive disorder characterized by severe hypomagnesemia, often accompanied by hypocalcemia. This disease is caused by mutations in the TRPM6 gene (which encodes the respective channel), leading to reduced i
Externí odkaz:
https://doaj.org/article/b960ef6a74d7475aab4d3f564351a37f
Autor:
Christian Siebold, Treena Cranston, Hannah Boon, Tomas Malinauskas, Morten Frost, Fadil M. Hannan, E. Yvonne Jones, Caroline M Gorvin, Rajesh V. Thakker
Publikováno v:
Human Molecular Genetics
HUMAN MOLECULAR GENETICS
Gorvin, C M, Frost, M, Malinauskas, T, Cranston, T, Boon, H, Siebold, C, Yvonne Jones, E, Hannan, F M & Thakker, R V 2018, ' Calcium-sensing receptor residues with loss-and gain-of-function mutations are located in regions of conformational change and cause signalling bias ', Human Molecular Genetics, vol. 27, no. 21, pp. 3720–3733 . https://doi.org/10.1093/hmg/ddy263
HUMAN MOLECULAR GENETICS
Gorvin, C M, Frost, M, Malinauskas, T, Cranston, T, Boon, H, Siebold, C, Yvonne Jones, E, Hannan, F M & Thakker, R V 2018, ' Calcium-sensing receptor residues with loss-and gain-of-function mutations are located in regions of conformational change and cause signalling bias ', Human Molecular Genetics, vol. 27, no. 21, pp. 3720–3733 . https://doi.org/10.1093/hmg/ddy263
The calcium-sensing receptor (CaSR) is a homodimeric G-protein-coupled receptor that signals via intracellular calcium (Ca 2+ i ) mobilisation and phosphorylation of extracellular signal-regulated kinase 1/2 (ERK) to regulate extracellular calcium (C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999ed792d9a56955738f1d9770dd7b70
http://ora.ox.ac.uk/objects/uuid:
http://ora.ox.ac.uk/objects/uuid: