CDH23
CDH23 (Cadherin related 23) هوَ بروتين يُشَفر بواسطة جين CDH23 في الإنسان.[1][2][3]
الوظيفة
المراجع
- "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D"، Nature Genetics، 27 (1): 108–12، 2001، doi:10.1038/83667، PMID 11138009.
- EntrezGene 64072
- "Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23"، The American Journal of Human Genetics، 68 (1): 26–37، 2001، doi:10.1086/316954، PMC 1234923، PMID 11090341.
قراءة متعمقة
- "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum"، The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology، 288A: 370–81، 2006، doi:10.1002/ar.a.20297، PMID 16550584.
- "Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers"، Archives of otolaryngology--head & neck surgery، 115 (5): 591–5، 1989، doi:10.1001/archotol.1989.01860290049013، PMID 2706105.
- "Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22"، Human Molecular Genetics، 5 (7): 1061–4، 1996، doi:10.1093/hmg/5.7.1061، PMID 8817348.
- "Normalization and subtraction: two approaches to facilitate gene discovery"، Genome Research، 6 (9): 791–806، 1996، doi:10.1101/gr.6.9.791، PMID 8889548.
- "Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10"، Human Molecular Genetics، 5 (10): 1689–92، 1996، doi:10.1093/hmg/5.10.1689، PMID 8894709.
- "Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D"، Nature Genetics، 27 (1): 103–7، 2001، doi:10.1038/83660، PMID 11138008.
- "Prediction of the Coding Sequences of Unidentified Human Genes. XX. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro"، DNA Research، 8 (2): 85–95، 2001، doi:10.1093/dnares/8.2.85، PMID 11347906.
- "Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice"، Genomics، 74 (2): 228–33، 2001، doi:10.1006/geno.2001.6554، PMID 11386759.
- "Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs"، Molecular Brain Research، 94 (1–2): 85–95، 2001، doi:10.1016/S0169-328X(01)00218-2، PMID 11597768.
- "Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D"، Human Mutation، 19 (3): 268–73، 2002، doi:10.1002/humu.10049، PMID 11857743.
- "CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness"، The American Journal of Human Genetics، 71: 262–75، 2002، doi:10.1086/341558، PMC 379159، PMID 12075507.
- "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions"، Proceedings of the National Academy of Sciences، 99: 14946–51، 2002، doi:10.1073/pnas.232579599، PMC 137525، PMID 12407180.
- "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family"، Hum. Genet.، 112 (2): 156–63، فبراير 2003، doi:10.1007/s00439-002-0833-0، PMID 12522556.
- "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin"، Human Molecular Genetics، 12 (5): 463–71، 2003، doi:10.1093/hmg/ddg051، PMID 12588794.
بوابة الكيمياء الحيوية
بوابة طب
بوابة علم الأحياء الخلوي والجزيئي
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.