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Results: 1 to 20 of 231

1.

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.

Tsubota A, Akiyama M, Kanitakis J, Sakai K, Nomura T, Claudy A, Shimizu H.

J Invest Dermatol. 2008 Jul;128(7):1648-52. doi: 10.1038/sj.jid.5701257. Epub 2008 Jan 24.

PMID:
18219278
[PubMed - indexed for MEDLINE]
Free Article
2.

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.

Akiyama M, Takizawa Y, Sawamura D, Matsuo I, Shimizu H.

Exp Dermatol. 2003 Oct;12(5):638-45.

PMID:
14705805
[PubMed - indexed for MEDLINE]
3.

Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.

Betlloch I, Lucas Costa A, Mataix J, Pérez-Crespo M, Ballester I.

Pediatr Dermatol. 2009 Jul-Aug;26(4):489-91. doi: 10.1111/j.1525-1470.2009.00969.x.

PMID:
19689541
[PubMed - indexed for MEDLINE]
4.

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Müller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ.

Hum Mol Genet. 2006 Apr 1;15(7):1133-41. Epub 2006 Feb 27.

PMID:
16505000
[PubMed - indexed for MEDLINE]
Free Article
5.

[Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].

Zhang SD, Liu JJ, Tian W, Zhao ZJ, Zhao JJ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):421-3. doi: 10.3760/cma.j.issn.1003-9406.2011.04.014. Chinese.

PMID:
21811984
[PubMed - indexed for MEDLINE]
6.

Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband.

Nomura K, Umeki K, Hatayama I, Kuronuma T.

Arch Dermatol. 2001 Sep;137(9):1192-5.

PMID:
11559215
[PubMed - indexed for MEDLINE]
7.

A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.

Saeki H, Hattori N, Mitsui H, Adachi M, Imakado S, Ishibashi Y, Tamaki K.

J Dermatol. 2002 Mar;29(3):168-71.

PMID:
11990254
[PubMed - indexed for MEDLINE]
8.

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.

Covaciu C, Castori M, De Luca N, Ghirri P, Nannipieri A, Ragone G, Zambruno G, Castiglia D.

Br J Dermatol. 2010 Jun;162(6):1384-7. doi: 10.1111/j.1365-2133.2010.09665.x. Epub 2010 Mar 10.

PMID:
20302579
[PubMed - indexed for MEDLINE]
9.

A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.

Uezato H, Yamamoto Y, Kuwae C, Nonaka K, Oshiro M, Kariya K, Nonaka S.

J Dermatol. 2005 Oct;32(10):801-8.

PMID:
16361731
[PubMed - indexed for MEDLINE]
10.

Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.

Mayuzumi N, Shigihara T, Ikeda S, Ogawa H.

J Eur Acad Dermatol Venereol. 2000 Jul;14(4):304-6.

PMID:
11204523
[PubMed - indexed for MEDLINE]
11.

A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.

Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T.

Jpn J Hum Genet. 1997 Mar;42(1):217-23.

PMID:
9184002
[PubMed - indexed for MEDLINE]
12.

New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.

Sheth N, Greenblatt D, McGrath JA.

Br J Dermatol. 2007 Sep;157(3):602-4. Epub 2007 Jun 26. No abstract available.

PMID:
17596149
[PubMed - indexed for MEDLINE]
13.

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH.

Am J Hum Genet. 1999 Mar;64(3):732-8.

PMID:
10053007
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Bullous congenital ichthyosiform erythroderma of Brocq.

Kucharekova M, Mosterd K, Winnepenninckx V, van Geel M, Sommer A, van Steensel MA.

Int J Dermatol. 2007 Nov;46 Suppl 3:36-8.

PMID:
17973888
[PubMed - indexed for MEDLINE]
15.

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene.

Terheyden P, Grimberg G, Hausser I, Rose C, Korge BP, Krieg T, Arin MJ.

J Invest Dermatol. 2009 Nov;129(11):2721-3. doi: 10.1038/jid.2009.131. Epub 2009 May 28. No abstract available.

PMID:
19474805
[PubMed - indexed for MEDLINE]
Free Article
16.

Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.

Sun XK, Ma LL, Xie YQ, Zhu XJ.

J Dermatol Sci. 2002 Sep;29(3):195-200.

PMID:
12234709
[PubMed - indexed for MEDLINE]
17.

Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.

Credille KM, Barnhart KF, Minor JS, Dunstan RW.

Br J Dermatol. 2005 Jul;153(1):51-8.

PMID:
16029326
[PubMed - indexed for MEDLINE]
18.

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.

Haruna K, Suga Y, Mizuno Y, Hasegawa T, Kourou K, Matsuba S, Muramatsu S, Ikeda S.

J Dermatol. 2007 Aug;34(8):545-8.

PMID:
17683385
[PubMed - indexed for MEDLINE]
19.

Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis.

Akhyani M, Kiavash K, Kamyab K.

Int J Dermatol. 2009 Feb;48(2):215-7. doi: 10.1111/j.1365-4632.2009.03569.x. No abstract available.

PMID:
19200214
[PubMed - indexed for MEDLINE]
20.

A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis.

Bickenbach JR, Longley MA, Bundman DS, Dominey AM, Bowden PE, Rothnagel JA, Roop DR.

Differentiation. 1996 Dec;61(2):129-39.

PMID:
8983179
[PubMed - indexed for MEDLINE]

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