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96 results

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A missense mutation (rs209302038) of KRT9 gene associated with heat stress in Chinese cattle.
Yang X, Qu K, Liu J, Qi X, Li F, Zhang J, Huang B, Lei C. Yang X, et al. Anim Biotechnol. 2023 Nov;34(6):1876-1882. doi: 10.1080/10495398.2022.2053697. Epub 2022 Mar 24. Anim Biotechnol. 2023. PMID: 35323100
Type I keratin 9 encoded by the KRT9 gene serves an important special function either in the mature palmar and plantar skin tissue. ...A missense mutation rs209302038 (NC_037346.1: g.41782870 G > A) was detected in KRT9, which changing the isoleucine into valine. …
Type I keratin 9 encoded by the KRT9 gene serves an important special function either in the mature palmar and plantar skin tissue. . …
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
Ke HP, Jiang HL, Lv YS, Huang YZ, Liu RR, Chen XL, Du ZF, Luo YQ, Xu CM, Fan QH, Zhang XN. Ke HP, et al. Gene. 2014 Aug 1;546(1):124-8. doi: 10.1016/j.gene.2014.05.048. Epub 2014 May 24. Gene. 2014. PMID: 24862219
It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gen …
It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms an …
Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders.
Li P, Qi J, Zhong Y, Ding A, Xiao H. Li P, et al. J Proteomics. 2023 Sep 15;287:104971. doi: 10.1016/j.jprot.2023.104971. Epub 2023 Jul 17. J Proteomics. 2023. PMID: 37467889
In this study, we proved that keratin 6C (KRT6C) is a probable hereterodimer partner for KRT9. In silico model for KRT6C/KRT9 shows a typical coiled-coil structure in their 2B domains. ...Each of the type I keratin is matched by a particular type II keratin to assem …
In this study, we proved that keratin 6C (KRT6C) is a probable hereterodimer partner for KRT9. In silico model for KRT6C/KRT9 …
Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
Wang P, Kang XJ, Tang XH, Liu JY, Li WZ, Wang WJ, Liang SN, Feng YY, Ding Y, Chen WJ. Wang P, et al. Cancer Genet. 2016 Nov;209(11):515-524. doi: 10.1016/j.cancergen.2016.10.002. Epub 2016 Oct 29. Cancer Genet. 2016. PMID: 27864007
The small interfering RNAs targeting the KRT9 R163W mutant and wildtype KRT9 were transfected into HaCaT cells, and total RNA isolated at 72 h post-transfection. Quantitative polymerase chain reaction and western blotting were used to analyse the effects of knock-do …
The small interfering RNAs targeting the KRT9 R163W mutant and wildtype KRT9 were transfected into HaCaT cells, and total RNA …
A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.
Chen N, Sun J, Song Y, Wei X, Shi Y, Zhang L. Chen N, et al. J Cosmet Dermatol. 2017 Sep;16(3):402-406. doi: 10.1111/jocd.12263. Epub 2016 Oct 10. J Cosmet Dermatol. 2017. PMID: 27726289
BACKGROUND: Mutations of keratin 9 (KRT9) gene is a hot research area of epidermolytic palmoplantar keratoderma (EPPK). ...A new heterozygous missense mutation (488G>T) was identified in the 488 site of exon 1 of KRT9 gene in all six patients, which resulted in s …
BACKGROUND: Mutations of keratin 9 (KRT9) gene is a hot research area of epidermolytic palmoplantar keratoderma (EPPK). ...A new hete …
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma.
Li Y, Tang L, Han Y, Zheng L, Zhen Q, Yang S, Gao M. Li Y, et al. Front Genet. 2019 Jan 7;9:645. doi: 10.3389/fgene.2018.00645. eCollection 2018. Front Genet. 2019. PMID: 30666268 Free PMC article.
Pathogenesis of EPPK is determined by mutations in the keratin gene (KRT9). Thirty three mutations in the KRT9 gene from 100 EPPK families have been identified. ...In this study, three heterozygous mutations (p.N161S, p.R163W, and p.R163Q), located in regions of the …
Pathogenesis of EPPK is determined by mutations in the keratin gene (KRT9). Thirty three mutations in the KRT9 gene from 100 E …
Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.
Lopez-Valdez J, Rivera-Vega MR, Gonzalez-Huerta LM, Cazarin J, Cuevas-Covarrubias S. Lopez-Valdez J, et al. Pediatr Dermatol. 2013 May-Jun;30(3):354-8. doi: 10.1111/pde.12027. Epub 2012 Dec 26. Pediatr Dermatol. 2013. PMID: 23278372
The clinical characteristics of members of this family were analyzed. The KRT9 gene of affected members was polymerase chain reaction amplified from genomic DNA and sequenced. ...Although R163W is the most frequent KRT9 mutation in patients with EPPK, only two famil …
The clinical characteristics of members of this family were analyzed. The KRT9 gene of affected members was polymerase chain reaction …
dsRNA Sensing Induces Loss of Cell Identity.
Zhou R, Wang G, Kim D, Kim S, Islam N, Chen R, Wang Z, Li A, McCarthy EF, Li L, Hu Z, Garza LA. Zhou R, et al. J Invest Dermatol. 2019 Jan;139(1):91-99. doi: 10.1016/j.jid.2018.07.021. Epub 2018 Aug 16. J Invest Dermatol. 2019. PMID: 30120933 Free PMC article.
For example, the transcriptome of in vivo palmoplantar (i.e., volar) epidermis is globally unique, including Keratin 9 (KRT9). Although volar fibroblasts have the capacity to induce KRT9 in nonvolar keratinocytes, we show here that volar keratinocytes continue to ex …
For example, the transcriptome of in vivo palmoplantar (i.e., volar) epidermis is globally unique, including Keratin 9 (KRT9). Althou …
Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma.
Li C, Chen P, Sun S, Zeng K, Liang J, Wang Q, Zhang S, Xu M, Li Z, Zhang X. Li C, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00703. doi: 10.1002/mgg3.703. Epub 2019 May 9. Mol Genet Genomic Med. 2019. PMID: 31074163 Free PMC article.
This heterozygous variation was not evident in 100 healthy controls. CONCLUSION: This report describes a KRT9 c.488G > A (p.Arg163Gln) variant causing a diffuse phenotype of Chinese EPPK. The current results broaden the spectrum of KRT9 pathogenic variants respon …
This heterozygous variation was not evident in 100 healthy controls. CONCLUSION: This report describes a KRT9 c.488G > A (p.Arg163 …
96 results