680 related articles for article (PubMed ID: 16029326)
61. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
Miyamoto T; Inoue H; Sakamoto Y; Kudo E; Naito T; Mikawa T; Mikawa Y; Isashiki Y; Osabe D; Shinohara S; Shiota H; Itakura M
Invest Ophthalmol Vis Sci; 2005 Aug; 46(8):2726-35. PubMed ID: 16043844
[TBL] [Abstract][Full Text] [Related]
62. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.
Gallinaro L; Sartorello F; Pontara E; Cattini MG; Bertomoro A; Bartoloni L; Pagnan A; Casonato A
Thromb Haemost; 2006 Dec; 96(6):711-6. PubMed ID: 17139363
[TBL] [Abstract][Full Text] [Related]
63. An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
Arin MJ; Longley MA; Küster W; Huber M; Hohl D; Rothnagel JA; Roop DR
Exp Dermatol; 1999 Apr; 8(2):124-7. PubMed ID: 10232403
[TBL] [Abstract][Full Text] [Related]
64. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
Shamsher MK; Navsaria HA; Stevens HP; Ratnavel RC; Purkis PE; Kelsell DP; McLean WH; Cook LJ; Griffiths WA; Gschmeissner S
Hum Mol Genet; 1995 Oct; 4(10):1875-81. PubMed ID: 8595410
[TBL] [Abstract][Full Text] [Related]
65. A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
Hilgert N; Topsakal V; van Dinther J; Offeciers E; Van de Heyning P; Van Camp G
Eur J Hum Genet; 2008 May; 16(5):593-602. PubMed ID: 18212818
[TBL] [Abstract][Full Text] [Related]
66. A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease.
de Boer M; Hartl D; Wintergerst U; Belohradsky BH; Roos D
Blood Cells Mol Dis; 2005; 35(3):365-9. PubMed ID: 16157492
[TBL] [Abstract][Full Text] [Related]
67. A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
Suga Y; Duncan KO; Heald PW; Roop DR
J Invest Dermatol; 1998 Dec; 111(6):1220-3. PubMed ID: 9856845
[TBL] [Abstract][Full Text] [Related]
68. Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.
Yang JM; Nam K; Kim SW; Jung SY; Min HG; Yeo UC; Park KB; Lee JH; Suhr KB; Park JK; Lee ES
J Dermatol Sci; 1999 Feb; 19(2):126-33. PubMed ID: 10098704
[TBL] [Abstract][Full Text] [Related]
69. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.
Virtanen M; Gedde-Dahl T; Mörk NJ; Leigh I; Bowden PE; Vahlquist A
Acta Derm Venereol; 2001; 81(3):163-70. PubMed ID: 11558869
[TBL] [Abstract][Full Text] [Related]
70. Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.
Abdul-Wahab A; Takeichi T; Liu L; Stephens C; Akiyama M; McGrath JA
Clin Exp Dermatol; 2016 Apr; 41(3):290-3. PubMed ID: 26338057
[TBL] [Abstract][Full Text] [Related]
71. Gene Editing-Mediated Disruption of Epidermolytic Ichthyosis-Associated KRT10 Alleles Restores Filament Stability in Keratinocytes.
March OP; Lettner T; Klausegger A; Ablinger M; Kocher T; Hainzl S; Peking P; Lackner N; Rajan N; Hofbauer JP; Guttmann-Gruber C; Bygum A; Koller U; Reichelt J
J Invest Dermatol; 2019 Aug; 139(8):1699-1710.e6. PubMed ID: 30998984
[TBL] [Abstract][Full Text] [Related]
72. A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits.
Muramatsu S; Suga Y; Mizuno Y; Hasegawa T; Tsuchihashi H; Matsuba S; Kohroh K; Yaguchi H; Ogawa H
Br J Dermatol; 2005 May; 152(5):1087-9. PubMed ID: 15888189
[No Abstract] [Full Text] [Related]
73. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.
Farias FH; Johnson GS; Taylor JF; Giuliano E; Katz ML; Sanders DN; Schnabel RD; McKay SD; Khan S; Gharahkhani P; O'Leary CA; Pettitt L; Forman OP; Boursnell M; McLaughlin B; Ahonen S; Lohi H; Hernandez-Merino E; Gould DJ; Sargan DR; Mellersh C
Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4716-21. PubMed ID: 20375329
[TBL] [Abstract][Full Text] [Related]
74. A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.
Affolter VK; Kiener S; Jagannathan V; Nagle T; Leeb T
PLoS One; 2022; 17(10):e0275367. PubMed ID: 36251712
[TBL] [Abstract][Full Text] [Related]
75. Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation.
Küster W; Reis A; Hennies HC
Arch Dermatol Res; 2002 Aug; 294(6):268-72. PubMed ID: 12192490
[TBL] [Abstract][Full Text] [Related]
76. Induction of p38, tumour necrosis factor-α and RANTES by mechanical stretching of keratinocytes expressing mutant keratin 10R156H.
Obarzanek-Fojt M; Favre B; Huber M; Ryser S; Moodycliffe AM; Wipff PJ; Hinz B; Hohl D
Br J Dermatol; 2011 Jan; 164(1):125-34. PubMed ID: 20804491
[TBL] [Abstract][Full Text] [Related]
77. Ichthyosis bullosa of Siemens--a disease involving keratin 2e.
McLean WH; Morley SM; Lane EB; Eady RA; Griffiths WA; Paige DG; Harper JI; Higgins C; Leigh IM
J Invest Dermatol; 1994 Sep; 103(3):277-81. PubMed ID: 7521371
[TBL] [Abstract][Full Text] [Related]
78. Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.
Yiasemides E; Trisnowati N; Su J; Dang N; Klingberg S; Marr P; Melbourne W; Tran K; Chow CW; Orchard D; Varigos G; Murrell DF
Clin Exp Dermatol; 2008 Nov; 33(6):689-97. PubMed ID: 18713255
[TBL] [Abstract][Full Text] [Related]
79. A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.
Lin JH; Lin MH; Yang MH; Chao SC
Clin Exp Dermatol; 2004 May; 29(3):308-10. PubMed ID: 15115518
[TBL] [Abstract][Full Text] [Related]
80. Epidermolytic hyperkeratosis: applied molecular genetics.
DiGiovanna JJ; Bale SJ
J Invest Dermatol; 1994 Mar; 102(3):390-4. PubMed ID: 7509838
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]