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All publications related to disease Bullous erythroderma ichthyosiformis congenita of Brocq, bullous congenital ichthyosiform erythroderma, epidermolytic hyperkeratosis. To link directly to a specific first author surname click on the required letter below.
ABCIKLMNPRSTUVWY A Akiyama M, Takizawa Y, Sawamura D, Matsuo I, Shimizu H
Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis.
Exp Dermatol 2003 12(5) 638-645 PubMed: 14705805 Arin MJ, Longley MA, Anton-Lamprecht I, Kurze G, Huber M, Hohl D, Rothnagel JA, Roop DR
A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
J Invest Dermatol 1999 112(4) 506-508 PubMed: 10201536 Arin MJ, Longley MA, Epstein EH, Rothnagel JA, Roop DR
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
Exp Dermatol 2000 9(1) 16-19 PubMed: 10688370 Arin MJ, Longley MA, Küster W, Huber M, Hohl D, Rothnagel JA, Roop DR
An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
Exp Dermatol 1999 8(2) 124-127 PubMed: 10232403 Back to index B Betlloch I, Lucas Costa A, Mataix J, Pérez-Crespo M, Ballester I
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.
Pediatr Dermatol 2009 26(4) 489-491 PubMed: 19689541 Back to index C Chassaing N, Kanitakis J, Sportich S, Cordier-Alex MP, Titeux M, Calvas P, Claudy A, Berbis P, Hovnanian A
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.
J Invest Dermatol 2006 126(12) 2715-2717 PubMed: 16990804 Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.
Cell 1992 70(5) 811-819 PubMed: 1381287 Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.
Cell 1992 70(5) 821-828 PubMed: 1381288 Chipev CC, Yang JM, DiGiovanna JJ, Steinert PM, Marekov L, Compton JG, Bale SJ
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
Am J Hum Genet 1994 54(2) 179-190 PubMed: 7508181 Cserhalmi-Friedman PB, Squeo R, Gordon D, Garzon M, Schneiderman P, Grossman ME, Christiano AM
Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
Clin Exp Dermatol 2000 25(3) 241-243 PubMed: 10844506 Back to index I Ishii N, Hamada T, Yasumoto S, Hashimoto T
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10.
Clin Exp Dermatol 2008 () - PubMed: 18261139 Ishiko A, Akiyama M, Takizawa Y, Nishikawa T, Shimizu Y, Shimizu H
A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma.
J Invest Dermatol 2001 116(6) 991-992 PubMed: 11407994 Back to index K Kremer H, Lavrijsen AP, McLean WH, Lane EB, Melchers D, Ruiter DJ, Mariman EC, Steijlen PM
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
J Invest Dermatol 1998 111(6) 1224-1226 PubMed: 9856846 Kucharekova M, Mosterd K, Winnepenninckx V, van Geel M, Sommer A, van Steensel MA
Bullous congenital ichthyosiform erythroderma of Brocq.
Int J Dermatol 2007 46 Suppl 3() 36-38 PubMed: 17973888 Back to index L Lee DY, Ahn KS, Lee CH, Rho NK, Lee JH, Lee ES, Steinert PM, Yang JM
Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.
J Invest Dermatol 2002 119(4) 976-977 PubMed: 12406348 Liu Y, Peng ZH, Xiao SX, Wang J, Geng S, Zhou X, Li X, Pan M, Lei X
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis.
J Dermatol Sci 2006 43(2) 143-145 PubMed: 16677804 Back to index M Math A, Frank J, Handisurya A, Poblete-Gutiérrez P, Slupetzky K, Födinger D, Winter D, Stingl G, Kirnbauer R
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement.
Eur J Dermatol 2006 16(5) 507-510 PubMed: 17101470 Mayuzumi N, Shigihara T, Ikeda S, Ogawa H
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.
J Eur Acad Dermatol Venereol 2000 14(4) 304-306 PubMed: 11204523 McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
J Invest Dermatol 1994 102(1) 24-30 PubMed: 7507152 McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.
Exp Dermatol 1999 8(2) 120-123 PubMed: 10232402 Michael EJ, Schneiderman P, Grossman ME, Christiano AM
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
Exp Dermatol 1999 8(6) 501-503 PubMed: 10597140 Moss C, Jones DO, Blight A, Bowden PE
Birthmark due to cutaneous mosaicism for keratin 10 mutation.
Lancet 1995 345(8949) 596-596 PubMed: 7539878 Müller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
Hum Mol Genet 2006 15(7) 1133-1141 PubMed: 16505000 Muramatsu S, Suga Y, Mizuno Y, Hasegawa T, Tsuchihashi H, Matsuba S, Kohroh K, Yaguchi H, Ogawa H
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.
Br J Dermatol 2005 152(5) 1087-1089 PubMed: 15888189 Back to index N Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T
A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
Jpn J Hum Genet 1997 42(1) 217-223 PubMed: 9184002 Nomura K, Umeki K, Hatayama I, Kuronuma T
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband.
Arch Dermatol 2001 137(9) 1192-1195 PubMed: 11559215 Back to index P Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G, Fuchs E
Genetic and clinical mosaicism in a type of epidermal nevus.
N Engl J Med 1994 331(21) 1408-1415 PubMed: 7526210 Back to index R Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
Science 1992 257(5073) 1128-1130 PubMed: 1380725 Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, Huber M, Hohl D, Roop DR
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
Hum Mol Genet 1993 2(12) 2147-2150 PubMed: 7509230 Rothnagel JA, Lin MT, Longley MA, Holder RA, Hazen PG, Levy ML, Roop DR
Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis.
Prenat Diagn 1998 18(8) 826-830 PubMed: 9742571 Back to index S Saeki H, Hattori N, Mitsui H, Adachi M, Imakado S, Ishibashi Y, Tamaki K
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.
J Dermatol 2002 29(3) 168-171 PubMed: 11990254 Sheth N, Greenblatt D, McGrath JA
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.
Br J Dermatol 2007 157(3) 602-604 PubMed: 17596149 Shimomura Y, Sato N, Tomiyama K, Takahashi A, Ito M
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene.
Clin Exp Dermatol 2006 31(2) 286-287 PubMed: 16487115 Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
J Invest Dermatol 2003 120(4) 623-626 PubMed: 12648226 Sun XK, Ma LL, Xie YQ, Zhu XJ
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.
J Dermatol Sci 2002 29(3) 195-200 PubMed: 12234709 Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
Am J Hum Genet 1999 64(3) 732-738 PubMed: 10053007 Syder AJ, Yu QC, Paller AS, Giudice G, Pearson R, Fuchs E
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
J Clin Invest 1994 93(4) 1533-1542 PubMed: 7512983 Back to index T Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.
Clin Exp Dermatol 2005 30(1) 64-67 PubMed: 15663507 Terheyden P, Grimberg G, Hausser I, Rose C, Korge BP, Krieg T, Arin MJ
Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene.
J Invest Dermatol 2009 () - PubMed: 19474805 Tsubota A, Akiyama M, Kanitakis J, Sakai K, Nomura T, Claudy A, Shimizu H
Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation.
J Invest Dermatol 2008 () - PubMed: 18219278 Tsubota A, Akiyama M, Sakai K, Goto M, Nomura Y, Ando S, Abe M, Sawamura D, Shimizu H
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
J Invest Dermatol 2007 127(6) 1371-1374 PubMed: 17255957 Tsubota A, Akiyama M, Sakai K, Yanagi T, McMillan JR, Higashi A, Shimizu H
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens.
Br J Dermatol 2008 158(1) 191-194 PubMed: 17970808 Back to index U Uezato H, Yamamoto Y, Kuwae C, Nonaka K, Oshiro M, Kariya K, Nonaka S
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
J Dermatol 2005 32(10) 801-808 PubMed: 16361731 Back to index V Virtanen M, Gedde-Dahl T, Mörk NJ, Leigh I, Bowden PE, Vahlquist A
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.
Acta Derm Venereol 2001 81(3) 163-170 PubMed: 11558869 Virtanen M, Smith SK, Gedde-Dahl T, Vahlquist A, Bowden PE
Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
J Invest Dermatol 2003 121(5) 1013-1020 PubMed: 14708600 Back to index W Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
Br J Dermatol 2001 145(2) 330-335 PubMed: 11531804 Back to index Y Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.
J Invest Dermatol 1994 102(1) 17-23 PubMed: 7507151 Yang JM, Nam K, Kim HC, Lee JH, Park JK, Wu K, Lee ES, Steinert PM
A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis.
J Invest Dermatol 1999 112(3) 376-379 PubMed: 10084317 Yang JM, Nam K, Kim SW, Jung SY, Min HG, Yeo UC, Park KB, Lee JH, Suhr KB, Park JK, Lee ES
Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.
J Dermatol Sci 1999 19(2) 126-133 PubMed: 10098704 Yang JM, Nam K, Park KB, Kim WS, Moon KC, Koh JK, Steinert PM, Lee ES
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis.
J Invest Dermatol 1996 107(3) 439-441 PubMed: 8751983 Yang JM, Yoneda K, Morita E, Imamura S, Nam K, Lee ES, Steinert PM
An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.
J Invest Dermatol 1997 109(5) 692-694 PubMed: 9347802 Back to index This page was last modified: April 17 2009 14:28:35. |
