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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
Chen N, Lee H, Kim AH, Liu PK, Kang EY, Tseng YJ, Seo GH, Khang R, Liu L, Chen KJ, Wu WC, Hsiao MC, Wang NK. Chen N, et al. BMC Ophthalmol. 2022 Nov 16;22(1):441. doi: 10.1186/s12886-022-02659-6. BMC Ophthalmol. 2022. PMID: 36384460 Free PMC article.
Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, abnormal vestibular function, and retinitis pigmentosa (RP). Here we present a case of Usher syndrome type 1F (USH1F) with a novel homozygous …
Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, abnormal vestibular function, …
Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.
Chance MR, Chang J, Liu S, Gokulrangan G, Chen DH, Lindsay A, Geng R, Zheng QY, Alagramam K. Chance MR, et al. Hum Mol Genet. 2010 Apr 15;19(8):1515-27. doi: 10.1093/hmg/ddq025. Epub 2010 Jan 22. Hum Mol Genet. 2010. PMID: 20097680 Free PMC article.
That analysis revealed a number of statistically significant candidate protein networks predicted to be altered in the affected cochlea. Quantitative PCR (qPCR) analysis of select candidates from the proteomic and bioinformatic investigations showed up-regulation of Coch m …
That analysis revealed a number of statistically significant candidate protein networks predicted to be altered in the affected cochl …
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
Perreault-Micale C, Frieden A, Kennedy CJ, Neitzel D, Sullivan J, Faulkner N, Hallam S, Greger V. Perreault-Micale C, et al. J Mol Diagn. 2014 Nov;16(6):673-8. doi: 10.1016/j.jmoldx.2014.07.001. J Mol Diagn. 2014. PMID: 25307757 Free article.
Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa. ...The high incidence of truncating exon 3 …
Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease as …
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ. Alagramam KN, et al. Hum Mol Genet. 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709. Hum Mol Genet. 2001. PMID: 11487575
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. ...We determined the genomic structure of this novel protocadherin, and found a single-base deletion in exon 10 i …
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this t …
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Nakashima M, et al. J Hum Genet. 2014 Aug;59(8):471-4. doi: 10.1038/jhg.2014.51. Epub 2014 Jun 26. J Hum Genet. 2014. PMID: 24965255
PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset seizures and developmental delay syndrome, and Usher syndrome type 1F, respectively. Our patient showed neurological features similar to reported cases of …
PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset seizures and developmental delay syndrome, …
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
Zhan Y, Liu M, Chen D, Chen K, Jiang H. Zhan Y, et al. Int J Pediatr Otorhinolaryngol. 2015 Jul;79(7):983-6. doi: 10.1016/j.ijporl.2015.04.002. Epub 2015 Apr 11. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25930172
The in-frame mutation c.2367_2369delTGT is located in the evolutionarily conserved EC7 domain of Protocadherin-15 and was predicted to be pathogenic. CONCLUSION: The novel homozygous mutation in a family segregating non-syndromic hearing loss family supports previous repor …
The in-frame mutation c.2367_2369delTGT is located in the evolutionarily conserved EC7 domain of Protocadherin-15 and was predicted t …