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Results: 1 to 20 of 153

1.

Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice.

Nakagawa N, Yamamoto M, Imai Y, Sakaguchi Y, Takizawa T, Ohta N, Yagi N, Hatta I, Hitomi K, Takizawa T, Takeda J, Tsuda T, Matsuki M, Yamanishi K.

J Dermatol Sci. 2012 Mar;65(3):196-206. doi: 10.1016/j.jdermsci.2011.12.011. Epub 2011 Dec 24.

PMID:
22258055
[PubMed - indexed for MEDLINE]
2.

Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity.

Rice RH, Crumrine D, Uchida Y, Gruber R, Elias PM.

Arch Dermatol Res. 2005 Sep;297(3):127-33. Epub 2005 Sep 29.

PMID:
16133457
[PubMed - indexed for MEDLINE]
3.

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.

Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, Saarialho-Kere U, Kere J, Palotie A.

Am J Hum Genet. 1997 Sep;61(3):529-38.

PMID:
9326318
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis.

Yotsumoto S, Akiyama M, Yoneda K, Fukushige T, Kobayashi K, Saheki T, Kanzaki T.

J Dermatol Sci. 2000 Nov;24(2):119-25.

PMID:
11064247
[PubMed - indexed for MEDLINE]
5.

Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs.

Credille KM, Minor JS, Barnhart KF, Lee E, Cox ML, Tucker KA, Diegel KL, Venta PJ, Hohl D, Huber M, Dunstan RW.

Br J Dermatol. 2009 Aug;161(2):265-72. doi: 10.1111/j.1365-2133.2009.09161.x. Epub 2009 Apr 24.

PMID:
19438474
[PubMed - indexed for MEDLINE]
6.

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.

Fachal L, Rodríguez-Pazos L, Ginarte M, Beiras A, Suárez-Peñaranda JM, Toribio J, Carracedo Á, Vega A.

Int J Dermatol. 2012 Apr;51(4):427-30. doi: 10.1111/j.1365-4632.2011.05171.x.

PMID:
22435431
[PubMed - indexed for MEDLINE]
7.

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR.

Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Review.

PMID:
19241467
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1.

Kuramoto N, Takizawa T, Takizawa T, Matsuki M, Morioka H, Robinson JM, Yamanishi K.

J Clin Invest. 2002 Jan;109(2):243-50.

PMID:
11805136
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

Akiyama M.

J Dermatol Sci. 2006 May;42(2):83-9. Epub 2006 Feb 14. Review.

PMID:
16481150
[PubMed - indexed for MEDLINE]
10.

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.

Pigg M, Gedde-Dahl T Jr, Cox D, Hausser I, Anton-Lamprecht I, Dahl N.

Eur J Hum Genet. 1998 Nov-Dec;6(6):589-96.

PMID:
9887377
[PubMed - indexed for MEDLINE]
Free Article
11.

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A.

Br J Dermatol. 2011 Oct;165(4):906-11. doi: 10.1111/j.1365-2133.2011.10454.x. Epub 2011 Aug 4.

PMID:
21668430
[PubMed - indexed for MEDLINE]
12.

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.

Akiyama M, Takizawa Y, Kokaji T, Shimizu H.

Br J Dermatol. 2001 Feb;144(2):401-7.

PMID:
11251583
[PubMed - indexed for MEDLINE]
13.

A distal region of the human TGM1 promoter is required for expression in transgenic mice and cultured keratinocytes.

Phillips MA, Jessen BA, Lu Y, Qin Q, Stevens ME, Rice RH.

BMC Dermatol. 2004 Apr 5;4:2.

PMID:
15061870
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.

Laiho E, Niemi KM, Ignatius J, Kere J, Palotie A, Saarialho-Kere U.

Eur J Hum Genet. 1999 Sep;7(6):625-32.

PMID:
10482949
[PubMed - indexed for MEDLINE]
Free Article
15.

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ.

Nat Genet. 1995 Mar;9(3):279-83.

PMID:
7773290
[PubMed - indexed for MEDLINE]
16.

Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis.

Li H, Vahlquist A, Törmä H.

J Dermatol Sci. 2013 Mar;69(3):195-201. doi: 10.1016/j.jdermsci.2012.11.593. Epub 2012 Dec 13.

PMID:
23290633
[PubMed - indexed for MEDLINE]
17.

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

Akiyama M.

Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. Review.

PMID:
20672373
[PubMed - indexed for MEDLINE]
18.

Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.

Aufenvenne K, Larcher F, Hausser I, Duarte B, Oji V, Nikolenko H, Del Rio M, Dathe M, Traupe H.

Am J Hum Genet. 2013 Oct 3;93(4):620-30. doi: 10.1016/j.ajhg.2013.08.003. Epub 2013 Sep 19.

PMID:
24055110
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Autosomal Recessive Congenital Ichthyosis.

Richard G, Bale SJ.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2001 Jan 10 [updated 2012 Sep 13].

PMID:
20301593
[PubMed]
Books & Documents
20.

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase).

Matsuki M, Yamashita F, Ishida-Yamamoto A, Yamada K, Kinoshita C, Fushiki S, Ueda E, Morishima Y, Tabata K, Yasuno H, Hashida M, Iizuka H, Ikawa M, Okabe M, Kondoh G, Kinoshita T, Takeda J, Yamanishi K.

Proc Natl Acad Sci U S A. 1998 Feb 3;95(3):1044-9.

PMID:
9448282
[PubMed - indexed for MEDLINE]
Free PMC Article

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