| 1 | DDD, KRT5
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| A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease.
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| Guo L, Luo X, Zhao A, Huang H, Wei Z, Chen L, Qin S, Shao L, Xuan J, Feng G, Minghua C, Luan J, He L, Xing Q.
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| J Eur Acad Dermatol Venereol 26(7):908-10. doi: 10.1111/j.1468-3083.2011.04115.x. Epub 2011 May 14.
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 | EBSMP, KRT5
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| Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.
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| Glŕsz-Bóna A, Medvecz M, Virágh Z, Hatvani Z, Blazsek A, Kárpáti S.
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| Eur J Dermatol 20(6):698-700. doi: 10.1684/ejd.2010.1080. Epub 2010 Oct 5.
2010
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| 4 | KRT5
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| Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.
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| Hanneken S, Rütten A, Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L, Wenzel J, Braun-Falco M, Ruzicka T, Nöthen MM, Kruse R, Betz RC.
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| Br J Dermatol 163(1):197-200. doi: 10.1111/j.1365-2133.2010.09741.x. Epub 2010 Mar 5.
2010
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| 5 | EBS3A, KRT5
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| A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
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| Flohil SC, Bolling MC, Kooi KA, Lemmink HH, Jonkman MF.
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| Eur J Dermatol 20(1):27-9. doi: 10.1684/ejd.2010.0804. Epub 2009 Oct 2.
2010
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| 6 | 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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| 7 | EBS3A, KRT5
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| A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist.
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| Kowalewski C, Hamada T, Wozniak K, Kawano Y, Szczecinska W, Yasumoto S, Schwartz RA, Hashimoto T.
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| Int J Mol Med 20(1):75-8.
2007
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| 8 | DDD, KRT5
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| Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease.
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| Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Bogaert KV, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nothen MM, Magin TM, Kruse R.
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| Am J Hum Genet 78(3):510-9. Epub 2006 Jan 19. 2006
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| 9 | 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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| 10 | EBSMP, KRT5
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| Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
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| Pascucci M, Posteraro P, Pedicelli C, Provini A, Auricchio L, Paradisi M, Castiglia D.
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| Eur J Dermatol 16(6):620-2.
2006
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| 11 | EBS3A, KRT5
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| K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne).
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| Liovic M, Podrumac B, Dragos V, Vouk K, Komel R.
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| Hum Hered 50(4):234-236. 2000
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| 12 | KRT1, KRT5
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| Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.
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| Whittock NV, Eady RA, McGrath JA.
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| Biochem Biophys Res Commun 274(1):149-52. 2000
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| 13 | 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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| 14 | EBS5A, KRT5
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| Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
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| Rugg EL, et al.
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| Eur J Hum Genet 7(3):293-300. 1999
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| 15 | EBSMP, KRT5
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| Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.
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| Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF.
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| Am J Med Genet 86(4):376-9 1999
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| 16 | 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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| 17 | EBSMP, KRT5
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| A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.
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| Irvine AD, et al.
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| J Invest Dermatol 108 : 809-810. 1997
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| 18 | EBS3A, KRT5
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| A keratin K5 mutation (Leu 463-->Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex.
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| Nomura K, Umeki K, Meng X, Tamai K, Sawamura D, Hosokawa M, Miyazawa T, Funayama M, Hashimoto I.
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| Arch Dermatol Res 289(8):493-5. 1997
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| 19 | 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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| 20 | EBSMP, KRT5
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| The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
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| Uttam J, et al.
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| Proc Natl Acad Sci U S A 93 : 9079-9084. 1996
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| 21 | EBS5A, KRT5
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| A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosasimplex.
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| Nomura K, et al.
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| J Invest Dermatol 107 : 253-254. 1996
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| 22 | EBS3A, KRT5
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| A common keratin 5 gene mutation in epidermolysis bullosa Simplex-Weber-Cockayne.
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| Ehrlich P, et al.
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| J Invest Dermatol 104 : 877-879. 1995
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| 23 | KRTC1, KRTC2, KRTC3, KRTC4, KRTC5, KRTC6, KRTC7, KRTC8, KRTC9, KRTC10, KRTC11, KRTC12, KRTC13, KRTC14, KRTC15, KRTC16, KRTC17, KRTC18, KRTC19, KRTC20, KRTC21, KRTC22, KRTC23, KRTC24, KRTC25, KRTC26, KRTC27, KRTC28, KRTC29, KRTC30, KRTC31, KRTC32, KRTC33, KRTC34, KRTC35, KRTC36, KRTC37, KRTC38, KRTC39, KRTC40, KRTC41, KRTC42, KRTC43, KRTC44, LAMB3, KRT5, KRT6B
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| Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization.
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| Morishima Y, Ariyama T, Yamanishi K, Abe T, Ueda E, Yasuno H, Inazawa J.
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| Genomics 28(2):273-9. 1995
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| 24 | EBS2A, KRT5
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| Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kbner type of epidermolysis bullosa simplex.
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| Dong W, et al.
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| Hum Mutat 2 : 94-102. 1993
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| 25 | KRT4, KRT5
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| Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12.
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| Wanner R, et al.
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| J Invest Dermatol 100 : 735-741. 1993
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| 26 | KRT5
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| Regional assignment of the human keratin 5 (KRT5) gene to chromosome 12q near D12S14 by PCR analysis of somatic cell hybrids and multicolor in situ hybridization.
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| Bonifas JM, et al.
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| Genomics 13 : 452-454. 1992
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| 27 | KRT5, KRT6A, KRT6B, KRT7
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| Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12.
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| Rosenberg M, et al.
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| Cytogenet Cell Genet 57 : 33-38. 1991
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| 28 | EBS2A, KRT5
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| Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.
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| Ishida-Yamamoto A, et al.
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| J Invest Dermatol 97 : 959-968. 1991
|