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Keratin 9

keratin 9, KRT9, EPPK, K-9, CK9, cytokeratin 9
This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: cytokeratin, ROD, CAN, POLYMERASE, PALM
Papers on keratin 9
Anatomical and histological study to determine the border of sole skin.
New
Mori et al., Tokyo, Japan. In Surg Radiol Anat, Feb 2016
The paraffin-embedded skin specimens were analyzed using histological (hematoxylin and eosin, Fontana-Masson, and elastica van Gieson stains) and immunohistochemical (cytokeratin 9) techniques.
Proteomic analysis of hepatocellular carcinoma HepG2 cells treated with platycodin D.
New
Yang et al., Aomen, Macao. In Chin J Nat Med, Sep 2015
Sixteen proteins were identified to be up-regulated in PD-treated HepG2 cells, including ATP5H, OXCT1, KRT9, CCDC40, ERP29, RCN1, ZNF175, HNRNPH1, HSP27, PA2G4, PHB, BANF1, TPM3, ECH1, LGALS1, and MYL6.
The serum protein fetuin-B is involved in the development of acute myocardial infarction.
New
Kim et al., Ch'ŏngju, South Korea. In Clin Sci (lond), Jul 2015
The expression of six proteins, including fibrinogen, fetuin-B, keratin 9, proapolipoprotein and fibrinogen, were altered in serum from patients with AMI compared with serum from those with SA.
RNA/DNA co-analysis from human skin and contact traces--results of a sixth collaborative EDNAP exercise.
New
Ballantyne et al., Zürich, Switzerland. In Forensic Sci Int Genet, May 2015
Two sets of previously described skin-specific markers were used: skin1 pentaplex (LCE1C, LCE1D, LCE2D, IL1F7 and CCL27) and skin2 triplex (LOR, KRT9 and CDSN) in conjunction with a housekeeping gene, HKG, triplex (B2M, UBC and UCE).
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.
New
Sasseville et al., Kuwait, Kuwait. In Case Rep Dermatol, May 2015
However, keratin 9 and 1 were not mutated, and full exome sequencing showed heterozygous missense mutation in type I keratin K16.
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
Zhang et al., Ningbo, China. In Gene, 2014
EPPK is generally caused by mutations of the KRT9 gene.
Epiplakin deficiency aggravates murine caerulein-induced acute pancreatitis and favors the formation of acinar keratin granules.
Fuchs et al., Vienna, Austria. In Plos One, 2013
Epiplakin-deficient (EPPK-/-) mice showed no obvious spontaneous phenotype, however, EPPK-/- keratinocytes displayed faster keratin network breakdown in response to stress.
Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
Shi et al., Changsha, China. In Genet Mol Res, 2013
The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK.
[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma].
GeneRIF
Zhu et al., Chengdu, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2012
A heterozygous transversional mutation, 488G-->A, was identified in exon 1 of KRT9 gene in all patients.
The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.
GeneRIF
Zhang et al., Hangzhou, China. In Anat Rec (hoboken), 2012
A substitution in arginine alters the charge and shape of KRT9 rod domain, disrupting the function of the helix initiation motif of keratins and compromising the integrity of filaments and weakening their stability in the epidermis of palms and soles.
A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.
GeneRIF
Zhang et al., Hangzhou, China. In Eur J Dermatol, 2011
KRT9 may play a complicated role in the genesis of epidermolytic palmoplantar keratoderma with knuckle pads and camptodactyly.
Keratin gene mutations in disorders of human skin and its appendages.
Review
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.
mRNA-based skin identification for forensic applications.
GeneRIF
Kayser et al., Rotterdam, Netherlands. In Int J Legal Med, 2011
identified mRNA transcripts from three genes CDSN, LOR and KRT9, showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification
Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma.
GeneRIF
Zuo et al., In Eur J Dermatol, 2011
Study provides evidence that epidermolytic palmoplantar keratoderma in a large Chinese family may result from a novel duplication mutation (c.495_503dupCTCTTACTT) in the 1A rod domain of KRT9.
Regulation of skin pigmentation and thickness by Dickkopf 1 (DKK1).
Review
Hearing et al., Nagoya, Japan. In J Investig Dermatol Symp Proc, 2009
Furthermore, DKK1 induces the expression of keratin 9 and alpha-Kelch-like ECT2-interacting protein (alphaKLEIP) but downregulates the expression of beta-catenin, glycogen synthase kinase 3beta, protein kinase C, and proteinase-activated receptor-2 (PAR-2) in keratinocytes.
Mesenchymal-epithelial interactions in the skin: aiming for site-specific tissue regeneration.
Review
Katayama et al., Suita, Japan. In J Dermatol Sci, 2005
However, trunk-derived epidermis can adopt a plantar phenotype, characterized by keratin 9 expression, hypopigmentation and thick suprabasal layers, through factors derived from plantar dermal fibroblasts in the wounds.
[Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].
Review
Lai et al., Ningbo, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2004
Also summarized are seventeen mutations of keratin 9 in EPPK in different ethnic populations.
Keratins: unraveling the coordinated construction of scaffolds in spermatogenic cells.
Review
Kierszenbaum, New York City, United States. In Mol Reprod Dev, 2002
The other, keratin 9, is a component of the perinuclear ring of the manchette, a microtubular structure developed during the elongation and condensation of the spermatid nucleus.
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
Impact
Sperling et al., Berlin, Germany. In Nat Genet, 1994
We have isolated the gene for human type I keratin 9 (KRT9) and localised it to chromosome 17q21.
Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer.
Impact
Lenoir et al., Villejuif, France. In Nat Genet, 1994
Epidermolytic palmoplantar keratosis (EPPK) cosegregates with breast and ovarian cancers in a large French pedigree, raising the possibility that a single genetic mutation might cause these conditions and offering a potential lead to the identification of a hereditary breast/ovarian cancer gene.
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