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Keratin 6A

K6a, keratin 6a, KRT6A, K6c
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: cytokeratin, Nail, K16, CAN, PC2
Papers on K6a
Can skin disease cause neuropathic pain? A study in pachyonychia congenita.
Hoggart et al., Solihull, United Kingdom. In Clin Exp Dermatol, Jan 2016
INTRODUCTION: Pachyonychia congenita (PC) is a rare skin disorder caused by an autosomal dominant mutation in one of five genes encoding keratin (K6a, K6b, K6c, K16 or K17; each defining one PC subtype).
Jadassohn Lewandowsky Syndrome: A Rare Entity.
Kumar et al., Kuppam, India. In Indian J Dermatol, Sep 2015
It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively.
Non-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin.
Kaspar et al., Santa Cruz, United States. In Mol Imaging Biol, Aug 2015
A siRNA targeting a single nucleotide, PC-relevant mutation inhibits K6a expression and has been evaluated in the clinic with encouraging results.
A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita.
Wan et al., Chengdu, China. In Indian J Dermatol Venereol Leprol, Jul 2015
We report a sporadic novel H1 mutation in the KRT6A gene (c.
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.
Sasseville et al., Kuwait, Kuwait. In Case Rep Dermatol, May 2015
The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation.
A seven-gene signature can predict distant recurrence in patients with triple-negative breast cancers who receive adjuvant chemotherapy following surgery.
Im et al., Seoul, South Korea. In Int J Cancer, May 2015
Increased expressions of the five genes (SMAD2, HRAS, KRT6A, TP63 and ETV6) and decreased expression of the two genes (NFKB1 and MDM4) were associated favorable prognosis and were validated with cross-validation.
Gene expression profiling in pachyonychia congenita skin.
Kaspar et al., Santa Cruz, United States. In J Dermatol Sci, Mar 2015
BACKGROUND: Pachyonychia congenita (PC) is a skin disorder resulting from mutations in keratin (K) proteins including K6a, K6b, K16, and K17.
Biological effect of ketamine in urothelial cell lines and global gene expression analysis in the bladders of ketamine‑injected mice.
Liu et al., Taiwan. In Mol Med Report, Feb 2015
A total of 52% of keratin family genes were downregulated, particularly keratin 6a, 13 and 14, which was confirmed by polymerase chain reaction analysis.
The active tamoxifen metabolite endoxifen (4OHNDtam) strongly down-regulates cytokeratin 6 (CK6) in MCF-7 breast cancer cells.
Lien et al., Bergen, Norway. In Plos One, 2014
Treatment of MCF-7 cells with 4OHNDtam led to a strong down-regulation of the CytoKeratin 6 isoforms (KRT6A, KRT6B and KRT6C).
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.
Tang et al., Stanford, United States. In Br J Dermatol, 2012
Phenotypic differences exist between KRT6A and KRT16 mutations support adoption of a new classification system.
Pachyonychia congenita with laryngeal obstruction.
Drummond et al., Calgary, Canada. In Pediatr Dermatol, 2011
This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in keratin 6a).
The phenotypic and molecular genetic features of pachyonychia congenita.
Smith et al., Dundee, United Kingdom. In J Invest Dermatol, 2011
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17.
Keratin gene mutations in disorders of human skin and its appendages.
Mukhtar et al., Madison, United States. In Arch Biochem Biophys, 2011
Examples include epidermolysis bullosa simplex (EBS; K5, K14), keratinopathic ichthyosis (KPI; K1, K2, K10) i.e. epidermolytic ichthyosis (EI; K1, K10) and ichthyosis bullosa of Siemens (IBS; K2), pachyonychia congenita (PC; K6a, K6b, K16, K17), epidermolytic palmo-plantar keratoderma (EPPK; K9, (K1)), monilethrix (K81, K83, K86), ectodermal dysplasia (ED; K85) and steatocystoma multiplex.
Aberrant heterodimerization of keratin 16 with keratin 6A in HaCaT keratinocytes results in diminished cellular migration.
Onder et al., Salzburg, Austria. In Mech Ageing Dev, 2010
these data highlight the possibility of a physiological role for K6/K16 heterodimers in keratinocyte cell migration, in addition to the heterodimer's known functions in cell differentiation and mechanical resilience.
[Keratin k6c mutations in focal palmoplantar keratoderma].
Dereure, Montpellier, France. In Ann Dermatol Venereol, 2010
Focal palmoplantar keratoderma is associated with mutations in keratin K6c in 3 families. 2 unrelated families have Asn172 del and the other has a deletion of AA 462-470. Review.
[The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I].
Ni et al., Wuxi, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2010
The mutation of 521T--> C in the K6A gene is the causing mutation in pachyonychia congenita type I.
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
Kaspar et al., Salt Lake City, United States. In J Dermatol Sci, 2008
Utilizing the technological by-products of the human genome project, such as RNA interference (RNAi) and quantitative RT-PCR (qRT-PCR), physicians and scientists have collaborated to create a candidate siRNA therapeutic that selectively inhibits a mutant allele of KRT6A, the most commonly affected PC keratin.
Pachyonychia Congenita
Sprecher et al., Seattle, United States. In Unknown Journal, 2006
DIAGNOSIS/TESTING: PC is diagnosed by clinical findings and by molecular genetic testing to detect a heterozygous pathogenic variant in one of the five keratin genes known to cause PC: KRT6A, KRT6B, KRT6C, KRT16, and KRT17.
Mouse models in preclinical studies for pachyonychia congenita.
Roop et al., Houston, United States. In J Investig Dermatol Symp Proc, 2005
Here, we review the existing mouse models involving the keratin genes (K6a, K6b, K16, and K17) that cause the human genetic disorder pachyonychia congenita (PC).
Mutation of a type II keratin gene (K6a) in pachyonychia congenita.
Turner et al., Cardiff, United Kingdom. In Nat Genet, 1995
Although we did not detect K16 or K17 mutations in PC families from Slovenia, we have found a heterozygous deletion in a K6 isoform (K6a) in the affected members of one family.
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