genetic disease

Literature (3)

Literature for DOID 630: genetic disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations., Splawski I,Timothy KW,Decher N,Kumar P,Sachse FB,Beggs AH,Sanguinetti MC,Keating MT, Proc Natl Acad Sci U S A. June 7, 2005; 102(23):1091-6490.
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways., Simons M,Gloy J,Ganner A,Bullerkotte A,Bashkurov M,Krönig C,Schermer B,Benzing T,Cabello OA,Jenny A,Mlodzik M,Polok B,Driever W,Obara T,Walz G, Nat Genet. May 1, 2005; 37(5):1546-1718.
Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis., Crouthamel OE,Li L,Dilluvio MT,White TW, Int J Mol Sci. January 22, 2023; 24(3):1422-0067.

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations., Splawski I,Timothy KW,Decher N,Kumar P,Sachse FB,Beggs AH,Sanguinetti MC,Keating MT, Proc Natl Acad Sci U S A. June 7, 2005; 102(23):1091-6490.

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways., Simons M,Gloy J,Ganner A,Bullerkotte A,Bashkurov M,Krönig C,Schermer B,Benzing T,Cabello OA,Jenny A,Mlodzik M,Polok B,Driever W,Obara T,Walz G, Nat Genet. May 1, 2005; 37(5):1546-1718.