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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 23"
Page 1
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB. Miyoshi T, et al. Hum Genet. 2022 Apr;141(3-4):363-382. doi: 10.1007/s00439-021-02304-0. Epub 2021 Jul 7. Hum Genet. 2022. PMID: 34232383 Review.
Deficiencies and mutations of stereocilia components that disturb this "dynamic equilibrium" in stereocilia can induce morphological changes and disrupt mechanotransduction causing sensorineural hearing loss, best studied in mouse and zebrafish models. Currently, at least 23 …
Deficiencies and mutations of stereocilia components that disturb this "dynamic equilibrium" in stereocilia can induce morphological changes …
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS. Song JS, et al. Ann Lab Med. 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. Ann Lab Med. 2020. PMID: 31858762 Free PMC article.
BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). ...This variant affects an amino acid residue located in the …
BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal …
A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D. Li Q, et al. Mol Med Rep. 2021 Jun;23(6):420. doi: 10.3892/mmr.2021.12059. Epub 2021 Apr 13. Mol Med Rep. 2021. PMID: 33846771 Free PMC article.
The family exhibited autosomal dominant, progressive, post-lingual, non-syndromic sensorineural hearing loss. ...The substitution of tyrosine with cysteine would affect the structure of the pore region, resulting in the loss of channel function. The KCNQ4 gene is on …
The family exhibited autosomal dominant, progressive, post-lingual, non-syndromic sensorineural hearing loss. ...The substitut …
Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.
Jin Z, Zhu Q, Lu Y, Cheng J, Yuan H, Han D. Jin Z, et al. Acta Otolaryngol. 2022 May;142(5):448-453. doi: 10.1080/00016489.2019.1597984. Epub 2022 May 31. Acta Otolaryngol. 2022. PMID: 35640035
BACKGROUND: To date, seven DFNA5 mutations have been reported in families with autosomal dominant non-syndromic hearing loss worldwide. All the mutations cause exon 8 skipping at the mRNA level, that led to the protein truncated and the protein could exert a gain of …
BACKGROUND: To date, seven DFNA5 mutations have been reported in families with autosomal dominant non-syndromic hearing loss w …
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA. Hildebrand MS, et al. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520338 Free PMC article.
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. ...Our data validate previously observed ge …
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL …
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G. Wei Q, et al. J Transl Med. 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. J Transl Med. 2014. PMID: 25388789 Free PMC article.
METHODS: Using targeted genomic capture and MPS, 104 genes and three microRNA regions were selected and simultaneously sequenced in 23 unrelated probands of Chinese families with nonsyndromic hearing loss. ...RESULTS: Of the 23 probands, six had …
METHODS: Using targeted genomic capture and MPS, 104 genes and three microRNA regions were selected and simultaneously sequenced in 23 …