Recombinant Human Alpha-tectorin (TECTA), partial

1. TECTA mutations were identified in 6.0% of mid-frequency sensorineural hearing loss cases; these mutations were more frequent in patients with shallow U-shaped audiograms than those with U-shaped audiograms, and in families which have the family histories compatible with autosomal dominant than those with the family histories compatible with sporadic or autosomal recessive. PMID: 28946916
2. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] PMID: 27142990
3. A novel homozygous variant (c.734G > A) was found in exon 5 of the TECTA gene in one family leading to a nonsense mutation causing autosomal recessive nonsyndromic hearing loss. PMID: 28012541
4. To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment PMID: 27368438
5. the present report suggest that the association of RWDD3 and TECTA with paclitaxel-induced peripheral neuropathy may have been a false positive signal PMID: 25549536
6. Here we confirm a known genotype-phenotype correlation for the ZP domain and propose a hypothetical genotype-phenotype correlation which relates mutations in vWFD3-D4 to stable high-frequency NSHL in Koreans. PMID: 25413827
7. Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA. PMID: 24816743
8. Identified the c.211delC mutation in the KCNQ4 gene and the c.2967C>A (p.H989Q) mutation in the TECTA gene to be associated with high-frequency sensorineural hearing loss in a Japanese family. PMID: 24655070
9. A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family. PMID: 25008054
10. Data indicate that sequencing of candidate gene TECTA (alpha-tectorin) revealed a heterozygous c.5945C>A substitution in exon 19, causing amino acid substitution of Ala to Asp at a conservative position 1982. PMID: 23936151
11. this study failed to replicate a GWAS reporting an association between the 2 SNPs rs2296308 in RWDD3 and rs1829 in the intron of TECTA and time to neuropathy in ovarian cancer patients treated with paclitaxel PMID: 22877241
12. we have reported the prevalence of TECTA mutations in Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL) patients detected by genetic screening, and confirmed the genotype-phenotype correlations. PMID: 22718023
13. analysis allowed us to identify an aberrant transcript with skipping of exon 16, without affecting the reading frame. One of the dominant TECTA mutations already described, a synonymous substitution in exon 16 PMID: 22995349
14. Here, we identified a missense mutation (p.C1691F) and a splicing mutation (c.6162+3insT), one in each TECTA allele, in the patient with hearing loss. PMID: 22037481
15. mutations in the N-terminal region of alpha-tectorin lead to mid-frequency nonsyndromic hearing loss PMID: 21520338
16. data identify CEACAM16 as an alpha-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus PMID: 21368133
17. Mutation analysis of the TECTA gene was performed in 62 Korean patients with hereditary hearing loss. PMID: 20947814
18. The tectorial membrane was shortened in heterozygous Tecta(C1509G/+) mice, reaching only the first row of outer hair cells. PMID: 20142329
19. distinctive phenotype associated with homozygosity for two novel frameshift mutations (649insC and 6037delG) of TECTA cosegregating with hearing loss linked to DFNB21 PMID: 12746400
20. A nucleotide change in exon 13, 4526T>G, was detected leading to a substitution from cysteine to glycine at codon 1509 of the TECTA protein and causing hearing impairment. PMID: 15319541
21. The presently identified mutation affecting the zona pellucida (ZP) domain resulted in a substantially lesser degree of hearing impairment than was previously reported for DFNA8/12 traits with mutations affecting the ZP domain of alpha-tectorin. PMID: 16718611
22. the sensorineural hearing impairment in TECTA mutations may be characterized as a cochlear conductive hearing impairment PMID: 17136632
23. Study described six TECTA mutations in autosomal recessive nonsyndromic hearing loss Iranian families PMID: 17431902
24. Identification of a p.Cys1837Arg autosomal dominant mutation in alpha-tectorin segregating in family members with non-syndromic hearing loss. PMID: 17661817
25. In this study, seventy-five Iranian families segregating autosomal recessive non-syndromic hearing impairment were analyzed. By sequencing all 23 coding exons of TECTA, a frameshift mutation was found. PMID: 18022253
26. Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation. PMID: 18575463
27. A single nucleotide mutation in a Dutch family caused nonsyndromic autosomal dominant sensorineural hearing impairmentm PMID: 19005249
28. cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family PMID: 11333869

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HGNC: 11720

OMIM: 601543

KEGG: hsa:7007

STRING: 9606.ENSP00000264037

UniGene: Hs.248162