PCDH15 Antibody

1. Novel 4658delT PCDH15 mutation was identified in a family with nonsyndromic hearing loss. PMID: 29692870
2. rs2045145 associated with more European female facial profile PMID: 29301965
3. We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. PMID: 27440999
4. PCDH15 polymorphism is associated with extraversion. PMID: 27918536
5. Results present structures of a protocadherin-15 fragment featuring a non-canonical linker region that exhibits increased flexibility without compromising mechanical strength. PMID: 28238533
6. This study confirms that genetic variations in PCDH15 modify the susceptibility to noise-induced hearing loss development in humans. PMID: 28292353
7. Results uncovered a novel interaction between MYO3A and PCDH15 shedding new light on the function of myosin IIIA at stereocilia tips. PMID: 26841241
8. no statistically significant association between any rare, heterozygous PCDH15 point variants and schizophrenia or autism spectrum disorders was found PMID: 27058588
9. PCDH15 p.Asp1010Gly variant probably modified the phenotypic expression of the 7511T>C mutation in MT-TS1 PMID: 26279247
10. The novel homozygous mutation in a family segregating non-syndromic hearing loss family supports previous reported observations that PCDH15 does not only causes Usher syndrome type 1F, but also DFNB23. PMID: 25930172
11. PCDH15 or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients. PMID: 26166082
12. PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly PMID: 25307757
13. Genetic variations of PCDH15 and their interactions with occupational noise exposure are associated with genetic susceptibility t onoise-induced hearing loss. PMID: 25462672
14. Patients lacking PCDH15-CD2 isoform are profoundly deaf. PMID: 24940003
15. Single nucleotide polymorphisms spanning a 9-kb region centered on exon 11 of the protocadherin 15 ( PCDH15 ) gene were found to be associated with irritable bowel syndrome in Australian, United States, and Swedish populations. PMID: 24797007
16. Alberta Hutterites with Usher syndrome type I do not carry the exon 10 mutation in the PCDH15 gene. PMID: 22690115
17. Seven different point mutations, five novel, were detected in PCDH15 gene in Spanish patients with Usher syndrome type I. PMID: 22815625
18. a combination of PCR-based mutation screening, together with deletion and duplication analysis, is mandatory for the accurate screening of the PCDH15 gene in Usher patients. PMID: 20538994
19. Study suggests that PCDH15 is associated with lipid abnormalities. PMID: 19816713
20. A founder mutation, R245X, of the PCDH15 gene among Ashkenazi Jews is a cause of Type 1 Usher Syndrome. PMID: 12711741
21. Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. PMID: 14570705
22. characterizeation of a new allele of the protocadherin 15 gene (designatedPcdh15(av-6J); Young Pcdh15(av-6J) mice are unresponsive to auditory stimulation and show circling behavior indicative of vestibular dysfunction PMID: 16887306
23. Analysis of three large deletions revealed that all six breakpoints are different. Breakpoint junction was identified in one patient and four other breakpoints were mapped to 4 kb. PMID: 17277737
24. Both mouse and human protocadherin 15 genes have complex genomic structures and transcription control mechanisms. PMID: 17706913
25. Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A PMID: 18463160
26. study of PCDH15 mutations in nonsyndromic deafness DFNB23 and type 1 Usher syndrome PMID: 18719945
27. missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss PMID: 19107147
28. One SNP in PCDH15 (rs7095441) and two SNPs in MYH14 (rs667907 and rs588035), resulted in significant associations in the Polish sample set and significant interactions with noise exposure level in the Swedish sample set. PMID: 19183343
29. Mutations cause Usher syndrome type 1F. Protocadherins are essential for maintenance of normal retinal and cochlear function. PMID: 11487575

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Usher syndrome 1F (USH1F); Usher syndrome 1D/F (USH1DF); Deafness, autosomal recessive, 23 (DFNB23)

Cell membrane; Single-pass type I membrane protein.; [Isoform 3]: Secreted.

Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of fetal cochlea. Expressed

HGNC: 14674

OMIM: 276900

KEGG: hsa:65217

STRING: 9606.ENSP00000354950

UniGene: Hs.280209