Inward rectifier potassium channel 13

Ghamari-Langroudi M et al. (2015) G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.

Sergouniotis PI et al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Khan AO et al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

Pattnaik BR et al. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

Krapivinsky G et al. (1998) A novel inward rectifier K+ channel with unique pore properties.

Partiseti M et al. (1998) Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine.

Derst C et al. (1998) Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).

Hejtmancik JF et al. (2008) Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

Zhang W et al. (2013) Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

Zhong H et al. (2015) CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.

NCBI article

OMIM.ORG article

Orphanet article

Wikipedia article