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Items: 1 to 20 of 111

1.

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

Krunic AL, Stone KL, Simpson MA, McGrath JA.

Pediatr Dermatol. 2013 Sep-Oct;30(5):e87-8. doi: 10.1111/pde.12092. Epub 2013 Mar 28.

PMID:
23534700
2.

Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.

Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA.

Pediatr Dermatol. 2012 May-Jun;29(3):258-63. doi: 10.1111/j.1525-1470.2011.01563.x. Epub 2011 Nov 8.

PMID:
22066523
3.

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.

Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP.

Am J Hum Genet. 2011 Oct 7;89(4):564-71. doi: 10.1016/j.ajhg.2011.09.001. Epub 2011 Sep 22.

4.

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM.

Genomics. 2012 Apr;99(4):202-8. doi: 10.1016/j.ygeno.2012.01.005. Epub 2012 Jan 25.

5.

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt DT, Baty D, Browne F, Liu L, Ozoemena L, Terron-Kwiatkowski A, McGrath JA, Mellerio JE, Morton J, Woźniak K, Kowalewski C, Has C, Moss C.

Br J Dermatol. 2014 Nov;171(5):1206-10. doi: 10.1111/bjd.12964. Epub 2014 Oct 20.

PMID:
24628291
6.

A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.

van der Velden JJ, Jonkman MF, McLean WH, Hamm H, Steijlen PM, van Steensel MA, van Geel M.

J Dermatol Sci. 2012 Jan;65(1):74-6. doi: 10.1016/j.jdermsci.2011.10.002. Epub 2011 Oct 13. No abstract available.

PMID:
22036214
7.

Acral peeling skin syndrome associated with a novel CSTA gene mutation.

Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K.

Clin Exp Dermatol. 2016 Jun;41(4):394-8. doi: 10.1111/ced.12777. Epub 2015 Dec 18.

PMID:
26684698
8.

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.

Moosbrugger-Martinz V, Jalili A, Schossig AS, Jahn-Bassler K, Zschocke J, Schmuth M, Stingl G, Eckl KM, Hennies HC, Gruber R.

Br J Dermatol. 2015 Jun;172(6):1628-32. doi: 10.1111/bjd.13545. Epub 2015 Mar 18.

PMID:
25400170
9.

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

Pigors M, Kiritsi D, Cobzaru C, Schwieger-Briel A, Suárez J, Faletra F, Aho H, Mäkelä L, Kern JS, Bruckner-Tuderman L, Has C.

J Invest Dermatol. 2012 Oct;132(10):2422-9. doi: 10.1038/jid.2012.166. Epub 2012 May 24.

10.

Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis.

Bowden PE.

J Invest Dermatol. 2011 Mar;131(3):561-4. doi: 10.1038/jid.2010.434.

11.

[Acral peeling skin syndrome].

Benchat L, Mikou O, Soughi M, Azzouzi S, Mernissi FZ.

Ann Dermatol Venereol. 2014 Apr;141(4):316-8. doi: 10.1016/j.annder.2013.11.008. Epub 2014 Jan 7. French. No abstract available.

PMID:
24703651
12.

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.

Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D.

J Med Genet. 2014 Jul;51(7):460-9. doi: 10.1136/jmedgenet-2014-102287. Epub 2014 Apr 29.

PMID:
24780881
13.

Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion.

Gupta A, Nitoiu D, Brennan-Crispi D, Addya S, Riobo NA, Kelsell DP, Mahoney MG.

PLoS One. 2015 Mar 18;10(3):e0120091. doi: 10.1371/journal.pone.0120091. eCollection 2015.

14.

Inflammatory peeling skin syndrome caused a novel mutation in CDSN.

Telem DF, Israeli S, Sarig O, Sprecher E.

Arch Dermatol Res. 2012 Apr;304(3):251-5. doi: 10.1007/s00403-011-1195-z. Epub 2011 Dec 7.

PMID:
22146835
15.

Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.

Mallet A, Kypriotou M, George K, Leclerc E, Rivero D, Mazereeuw-Hautier J, Serre G, Huber M, Jonca N, Hohl D.

Br J Dermatol. 2013 Dec;169(6):1322-5. doi: 10.1111/bjd.12593.

PMID:
23957618
16.

[Plantar acral peeling skin syndrome].

Oumakhir S, Hjira N, Albouzidi A, Ghfir M, Sedrati O.

Ann Dermatol Venereol. 2009 Apr;136(4):391-2. doi: 10.1016/j.annder.2008.05.028. Epub 2009 Feb 6. French. No abstract available.

PMID:
19361715
17.

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH.

Am J Hum Genet. 2005 Dec;77(6):909-17. Epub 2005 Oct 11.

18.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.

PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747. eCollection 2014.

19.

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V.

J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14.

PMID:
25873735
20.

Acral peeling skin syndrome in two East-African siblings: case report.

Kiprono SK, Chaula BM, Naafs B, Masenga JE.

BMC Dermatol. 2012 Mar 19;12:2. doi: 10.1186/1471-5945-12-2.

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