| 1 | EBS5B, KRT14
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| Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type.
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| Crombie J, Greenlaw S, Fenner J, Lyle S, Wiss K.
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| J Am Acad Dermatol 67(3):e120-1. doi: 10.1016/j.jaad.2011.10.013. No abstract available.
2012
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| 2 | KRT14, KRT5, STXBP1
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| Novel function of keratins 5 and 14 in proliferation and differentiation of stratified epithelial cells.
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| Alam H, Sehgal L, Kundu ST, Dalal SN, Vaidya MM.
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| Mol Biol Cell 22(21):4068-78. doi: 10.1091/mbc.E10-08-0703. Epub 2011 Sep 7. 2011
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| 3 | KRT14, NFJ
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| A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.
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| van Steensel MA, Lemmink HH.
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| J Eur Acad Dermatol Venereol 24(9):1116-7. doi: 10.1111/j.1468-3083.2010.03598.x. Epub 2010 Feb 9. No abstract available.
2010
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| 4 | EBS5B, KRT14
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| Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
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| Ołdak M, Kowalewski C, Maksym RB, Woźniak K, Pollak A, Podgórska M, Wnorowski A, Kosińska J, Płoski R.
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| J Dermatol Sci 57(1):69-70. doi: 10.1016/j.jdermsci.2009.09.006. Epub 2009 Oct 24. No abstract available.
2010
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| 5 | CDM1, CDM2, KRT12, KRT13, KRT14, KRT3, KRT5, KTRT4, WHSN1, WHSN2
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| The molecular basis of human keratin disorders.
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| Arin MJ.
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| Hum Genet 125(4):355-73. Epub 2009 Feb 27. Review.
2009
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| 6 | DPIR, KRT14
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| A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation.
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| Goh BK, Common JE, Gan WH, Kumarasinghe P.
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| Clin Exp Dermatol 34(3):340-3. doi: 10.1111/j.1365-2230.2008.02950.x. Epub 2008 Nov 24.
2009
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| 7 | KRT14, NFJ
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| KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
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| Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E.
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| J Invest Dermatol 128(6):1517-24. Epub 2007 Nov 29.PMID: 18049449 2008
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| 8 | KRT14, DPIR, NFJ
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| Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
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| Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E.
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| Am J Hum Genet 79(4):724-30. Epub 2006 Aug 25. 2006
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| 9 | KRT12, KRT14, KRT15, KRT19
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| Cytokeratin 15 can be used to identify the limbal phenotype in normal and diseased ocular surfaces.
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| Yoshida S, Shimmura S, Kawakita T, Miyashita H, Den S, Shimazaki J, Tsubota K.
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| Invest Ophthalmol Vis Sci. 47(11):4780-6. 2006
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| 10 | KRT1, KRT10, KRT12, KRT13, KRT14, KRT14P, KRT15, KRT16, KRT17, KRT17P3, KRT18, KRT18P12, KRT18P16, KRT18P17, KRT18P18, KRT18P19, KRT18P20, KRT18P21, KRT18P22, KRT18P23, KRT18P24, KRT18P25, KRT18P26, KRT18P27, KRT18P28, KRT18P29, KRT18P30, KRT18P31, KRT18P32, KRT18P33, KRT18P34, KRT18P35, KRT18P36, KRT18P37, KRT18P38, KRT18P39, KRT18P40, KRT18P41, KRT18P42, KRT18P43, KRT18P44, KRT18P45, KRT18P46, KRT18P47, KRT18P48, KRT18P49, KRT18P5, KRT18P50, KRT18P8, KRT19, KRT19P1, KRT19P2, KRT19P3, KRT2, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT3, KRT31, KRT32, KRT33, KRT33A, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT4, KRT40, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, KRT8P10, KRT8P13, KRT8P15, KRT8P17, KRT8P18, KRT8P19, KRT8P20, KRT8P21, KRT8P22, KRT8P23, KRT8P24, KRT8P25, KRT8P26, KRT8P27, KRT8P28, KRT8P29, KRT8P30, KRT8P5, KRT8P6, KRT8P7, KRT8P8, KRT8P9, KRT9, KRTAP19-8, KRTAP20-4
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| New consensus nomenclature for mammalian keratins.
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| Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW.
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| J Cell Biol 174(2):169-74. Epub 2006 Jul 10. 2006
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| 11 | KRT14, KRT15
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| Thyroid hormones and gamma interferon specifically increase K15 keratin gene transcription.
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| Radoja N, Stojadinovic O, Waseem A, Tomic-Canic M, Milisavljevic V, Teebor S, Blumenberg M.
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| Mol Cell Biol 24(8):3168-79.
2004
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| 12 | TOP2A, GRB2, AOC3, AP2B1, KRT14, JUP, ITGA3
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| Targets of gene amplification and overexpression at 17q in gastric cancer.
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| Varis A, Wolf M, Monni O, Vakkari ML, Kokkola A, Moskaluk C, Frierson H Jr, Powell SM, Knuutila S, Kallioniemi A, El-Rifai W.
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| Cancer Res 62(9):2625-9. 2002
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| 13 | DPIR, KRT14
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| Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
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| Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G.
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| J Invest Dermatol 119(3):692-8. 2002
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| 14 | KRT14
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| A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.
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| Batta K, Rugg EL, Wilson NJ, West N, Goodyear H, Lane EB, Gratian M, Dopping-Hepenstal P, Moss C, Eady RA.
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| Br J Dermatol 143(3):621-7. 2000
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| 15 | EBS2A, EBS2B, EBS3A, EBS3B, EBS5A, EBS5B, KRT5, KRT14
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| Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
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| Sorensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N.
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| J Invest Dermatol 112(2):184-90. 1999
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| 16 | EBS5B, KRT14
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| A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.
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| Muller FB, Anton-Lamprecht I, Kuster W, Korge BP.
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| J Invest Dermatol 112(6):988-90. 1999
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| 17 | KRT14
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| Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
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| Corden LD, Mellerio JE, Gratian MJ, Eady RA, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA, McLean WH.
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| Hum Mutat 11(4):279-85. 1998
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| 18 | EBS3A, EBS3B, KRT5, KRT14
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| Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
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| Muller FB, Kuster W, Bruckner-Tuderman L, Korge BP.
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| J Invest Dermatol 111(5):900-2. 1998
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| 19 | EBS5B, KRT14
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| Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
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| Shemanko CS, Mellerio JE, Tidman MJ, Lane EB, Eady RA.
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| J Invest Dermatol 111(5):893-5. 1998
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| 20 | EBS3B, EBS5B, KRT14
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| Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.
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| Hu ZL, Smith L, Martins S, Bonifas JM, Chen H, Epstein EH Jr.
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| J Invest Dermatol 109(3):360-4. 1997
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| 21 | EBS2B, EBS3A, KRT14, KRT5
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| Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
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| Humphries MM, Mansergh FC, Kiang AS, Jordan SA, Sheils DM, Martin MJ, Farrar GJ, Kenna PF, Young MM, Humphries P.
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| Hum Mutat 8(1):57-63. 1996
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| 22 | KRT1@1, KRT19, KRT15, KRT17, KRT16, KRT14
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| Close linkage of the two keratin gene clusters in the human genome.
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| Milisavljevic V, Freedberg IM, Blumenberg M.
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| Genomics 34(1):134-8. 1996
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| 23 | EBS2B, EBS3B, EBS5B, KRT14
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| Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.
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| Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH Jr.
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| J Invest Dermatol 105(4):629-32. 1995
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| 24 | EBS2B, EBS5A, KRT14
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| Keratin 14 gene point mutation in the Kšbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method.
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| Hachisuka H, Morita M, Karashima T, Sasai Y.
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| Arch Dermatol Res 287(2):142-5. 1995
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| 25 | EBS3B, KRT14
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| A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.
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| Yamanishi K, Matsuki M, Konishi K, Yasuno H.
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| Hum Mol Genet 3(7):1171-2. 1994
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| 26 | KRT14, EBS5B
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| A human keratin 14 knockout: the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.
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| Chan Y, Anton-Lamprecht I, Yu QC, Jackel A, Zabel B, Ernst JP, Fuchs E.
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| Genes Dev 8(21):2574-87. 1994
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| 27 | EBS2B, EBS3B, EBS5B, KRT14
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| A functional knockout of human keratin 14.
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| Rugg EL, McLean WH, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJ, Navsaria HA, Leigh IM, Eady RA.
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| Genes Dev 8(21):2563-73. 1994
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| 28 | EBS3B, KRT14
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| A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.
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| Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH Jr.
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| Hum Mol Genet 2(11):1971-2. 1993
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| 29 | KRT14, EBS5B
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| A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
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| Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M.
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| Nat Genet 3(4):327-32. 1993
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| 30 | EBS3B, KRT14
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| A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
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| Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P.
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| Hum Mutat 2(1):37-42. 1993
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| 31 | KRT14
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| Alu polymorphism in the human type I keratin (KRT14) gene.
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| Humphries MM, Sheils DM, Jordan SA, Farrar GJ, Kumar-Singh R, Humphries P.
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| Hum Mol Genet 1(6):453. 1992
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| 32 | KRT1@1, KRT1@2, KRT14, KRT16
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| A group of type I keratin genes on human chromosome 17: characterization and expression.
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| Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E.
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| Mol Cell Biol 8(2):722-36. 1988
|