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Items: 1 to 20 of 98

1.

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP.

Science. 2010 Oct 1;330(6000):94-7. doi: 10.1126/science.1192280. Epub 2010 Aug 26.

2.

Genetics. Mosaicism--switch or spectrum?

Davis BR, Candotti F.

Science. 2010 Oct 1;330(6000):46-7. doi: 10.1126/science.1195991. No abstract available.

PMID:
20929800
3.

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP.

J Clin Invest. 2015 Apr;125(4):1703-7. doi: 10.1172/JCI64415. Epub 2015 Mar 16.

4.

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation.

Burger B, Spoerri I, Schubert M, Has C, Itin PH.

Br J Dermatol. 2012 Feb;166(2):434-9. doi: 10.1111/j.1365-2133.2011.10639.x. Epub 2011 Dec 5.

PMID:
21929535
5.

Ichthyosis with confetti: clinics, molecular genetics and management.

Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G.

Orphanet J Rare Dis. 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. Review.

6.

The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.

Spoerri I, Brena M, De Mesmaeker J, Schlipf N, Fischer J, Tadini G, Itin PH, Burger B.

JAMA Dermatol. 2015 Jan;151(1):64-9. doi: 10.1001/jamadermatol.2014.2526.

PMID:
25210931
7.

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J.

Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299.

8.

Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10.

Diociaiuti A, Fortugno P, El Hachem M, Angelo C, Proto V, De Luca N, Martinelli D, Boldrini R, Castiglia D, Zambruno G.

Acta Derm Venereol. 2014 Sep;94(5):579-82. doi: 10.2340/00015555-1796.

9.

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E.

Cell. 1992 Sep 4;70(5):811-9.

PMID:
1381287
10.

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.

Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM.

Cell. 1992 Sep 4;70(5):821-8.

PMID:
1381288
11.

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

Betlloch I, Lucas Costa A, Mataix J, PĂ©rez-Crespo M, Ballester I.

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

PMID:
19689541
12.

Loss of heterozygosity and mitotic linkage maps in the mouse.

Henson V, Palmer L, Banks S, Nadeau JH, Carlson GA.

Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6486-90.

13.

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.

Mirza H, Kumar A, Craiglow BG, Zhou J, Saraceni C, Torbeck R, Ragsdale B, Rehder P, Ranki A, Choate KA.

J Invest Dermatol. 2015 Dec;135(12):3041-50. doi: 10.1038/jid.2015.284. Epub 2015 Jun 15.

14.

Phenotypic expansion in ichthyosis with confetti.

Choate KA, Milstone LM.

JAMA Dermatol. 2015 Jan;151(1):15-6. doi: 10.1001/jamadermatol.2014.2525. No abstract available.

PMID:
25210951
15.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP.

Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16.

16.

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

Kiritsi D, He Y, Pasmooij AM, Onder M, Happle R, Jonkman MF, Bruckner-Tuderman L, Has C.

J Clin Invest. 2012 May;122(5):1742-6. doi: 10.1172/JCI61976. Epub 2012 Apr 2.

17.

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.

Schuilenga-Hut PH, Scheffer H, Pas HH, Nijenhuis M, Buys CH, Jonkman MF.

J Invest Dermatol. 2002 Apr;118(4):626-30.

19.

Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.

Sprecher E, Ishida-Yamamoto A, Becker OM, Marekov L, Miller CJ, Steinert PM, Neldner K, Richard G.

J Invest Dermatol. 2001 Apr;116(4):511-9.

20.

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

Fuchs E, Esteves RA, Coulombe PA.

Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):6906-10.

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