GITELMAN SYNDROME; GTLMNS

Literature (4)

Literature for OMIM 263800: GITELMAN SYNDROME; GTLMNS

Xenbase Articles:
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Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome., Van Der Vliet WA,Van Den Heuvel LP,Willems PH,Bindels RJ,De Jong JC,Knoers NV, J Am Soc Nephrol. June 1, 2002; 13(6):1533-3450.
Organization of the pronephric kidney revealed by large-scale gene expression mapping., Raciti D,Reggiani L,Geffers L,Jiang Q,Bacchion F,Clements D,Tindal C,Davidson DR,Kaissling B,Brändli AW,Subrizi AE, Genome Biol. January 1, 2008; 9(5):1474-760X.
A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress., Tang W,Huang X,Liu Y,Lv Q,Li T,Song Y,Zhang X,Chen X,Shi Y,Shi Y, J Endocrinol Invest. March 1, 2021; 44(3):0391-4097.
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder., Jiang L,Peng X,Zhao B,Zhang L,Xu L,Li X,Nie M,Chen L, Endocr Connect. January 27, 2022; 11(1):2049-3614.

Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome., Van Der Vliet WA,Van Den Heuvel LP,Willems PH,Bindels RJ,De Jong JC,Knoers NV, J Am Soc Nephrol. June 1, 2002; 13(6):1533-3450.

Organization of the pronephric kidney revealed by large-scale gene expression mapping., Raciti D,Reggiani L,Geffers L,Jiang Q,Bacchion F,Clements D,Tindal C,Davidson DR,Kaissling B,Brändli AW,Subrizi AE, Genome Biol. January 1, 2008; 9(5):1474-760X.

Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder., Jiang L,Peng X,Zhao B,Zhang L,Xu L,Li X,Nie M,Chen L, Endocr Connect. January 27, 2022; 11(1):2049-3614.