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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
USH1G
gene.
Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet. 2003 Jun;63(6):431-44. Review.
PubMed citation
El-Amraoui A, Petit C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci. 2005 Oct 15;118(Pt 20):4593-603. Review.
PubMed citation
Entrez
Gene
Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J Mol Med (Berl). 2005 Dec;83(12):1025-32. Epub 2005 Nov 8.
PubMed citation
Keats BJ, Savas S. Genetic heterogeneity in Usher syndrome. Am J Med Genet A. 2004 Sep 15;130A(1):13-6. Review.
PubMed citation
Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Hum Genet. 2002 Apr;110(4):348-50. Epub 2002 Mar 12.
PubMed citation
OMIM:
USH1G
GENE
Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.
PubMed citation
Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003 Mar 1;12(5):463-71.
PubMed citation
Reviewed: February 2007
Published: May 20, 2013