Recombinant Human Cadherin-23 (CDH23), partial

1. We have identified CDH23 mutations as a genetic risk factor for both familial and sporadic pituitary adenoma. PMID: 28413019
2. an important contribution of CDH23 mutations to poslingual Sensorineural Hearing Loss PMID: 27792758
3. A new diagnosis of sector retinitis pigmentosa was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation. PMID: 26878454
4. Four (3.1 %) of 128 children carried two CDH23 mutant alleles, and SLC26A4 and GJB2 accounted for 18.0 and 17.2 %, respectively and showed profound nonsyndromic sensorineural hearing loss with minimal residual hearing. PMID: 26264712
5. The results revealed that CDH23 mutations are highly prevalent in patients with congenital high-frequency sporadic or recessively inherited hearing loss PMID: 25963016
6. Description of the spectrum of mutations in CDH23 in 374 families with autosomal recessive, non-syndromic hearing loss from India. PMID: 24416283
7. The results of this study confirm that CDH23 genetic variant may modify the susceptibility to noise-induced hearing loss development in humans PMID: 24448297
8. mutations in the CDH23 gene are one of the most important causes of non-syndromic hearing loss in East Asians. PMID: 24767429
9. Hearing loss was found to co-segregate with locus-specific STR markers for CDH23 in 1 Pakistani family. PMID: 23770805
10. mutations of the CDH23 gene are an important cause of non-syndromic hearing loss. PMID: 22899989
11. Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia PMID: 22879593
12. Despite that the Ahl allele of Cdh23 had been implicated with ARHI in mice, we found no positive association of the CDH23 tag SNP in intron 7 with ARHI in Han Chinese. PMID: 22581638
13. cadherin-23 is up-regulated in breast cancer tissue versus normal tissue and we propose that cadherin-23-mediated heterotypic adhesion between invading tumor cells and stromal fibroblasts may play a role in the metastatic cascade. PMID: 22413011
14. One non-syndromic deafness allele (DFNB12) in trans configuration to an Usher syndrome allele (USH1D) of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele. PMID: 21940737
15. Five mutations (three in MYO7A and two in CDH23) were identified in four of five unrelated patients with Usher syndrome type 1. PMID: 20844544
16. individuals with the rs1227049 CC genotype, rs3802711 TT genotype and GG genotype in the terminal position of exon 7 of CDH23 might be more susceptible to noise induced hearing loss. PMID: 16598924
17. determined the structure of the extracellular cadherin (EC)1-EC2 domains of cadherin 23, which binds to protocadherin 15 to form tip links of mechanosensory hair cells. PMID: 20498078
18. Describes cloning of human and mouse isoforms B1, B2, C1 and C2. PMID: 15882574
19. Three novel CDH23 mutations have been identified in patients with Usher syndrome type 1D. PMID: 11857743
20. patients with mutations in CDH23 display a wide range of hearing loss and retinitis pigmentosa phenotypes PMID: 12075507
21. the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia PMID: 12485990
22. CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle. PMID: 15537665
23. Missense mutations in CDH23 have been associated with presbycusis and nonsyndromic prelingual hearing loss (DFNB12), whereas null alleles cause the majority of Usher syndrome (Usher 1D). PMID: 16550584
24. Disease causing mutations were identified in 31 of the 34 families referred: 17 in MYO7A, 6 in CDH23, 6 in PCDH15, and 2 in USH1C. PMID: 16679490
25. analysis of CDH23 mutations in Japanese patients with non-syndromic hearing loss PMID: 17850630
26. Four missense mutations have been described in USH1 patients in a homozygous state. PMID: 18273900
27. Molecular genetic analysis was performed in 11 patients and pathogenic mutations were identified in all cases: (mutation in cadherin 23 gene in 6 cases). Two new mutations in the CDH23 gene never reported were found. PMID: 18323324
28. 35 SNP-s were identified. The nonsynonymous SNPs localized to the part of the gene encoding the extracellular domain of Cadherin 23, (ectodomains 5, 13, 14, 15, 16, 17, 19, and 22). One amino acid change occurred at a conserved position in ectodomain 5. PMID: 18348277
29. Screening revealed that in Japanese, mutation in CDH23 is the major causes of hearing loss. PMID: 18368581
30. Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations. PMID: 18429043
31. The structures of the harmonin N-domain alone and in complex with the cadherin 23 internal peptide fragment uncovered the detailed binding mechanism of this interaction between harmonin and cadherin 23. PMID: 19297620
32. Observational study of gene-disease association and genetic testing. (HuGE Navigator) PMID: 19683999
33. the apparent occurrence of an unusual TG 3' splice site in intron 11 is discussed PMID: 17672918

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HGNC: 13733

OMIM: 276900

KEGG: hsa:64072

STRING: 9606.ENSP00000381768

UniGene: Hs.656032