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Items: 1 to 20 of 108

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1.

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
2.

Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease.

Teye K, Hamada T, Krol RP, Numata S, Ishii N, Matsuda M, Ohata C, Furumura M, Hashimoto T.

J Dermatol Sci. 2014 Jul;75(1):36-42. doi: 10.1016/j.jdermsci.2014.04.003. Epub 2014 Apr 15.

PMID:
24794518
3.

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.

Ishida-Yamamoto A, Furio L, Igawa S, Honma M, Tron E, Malan V, Murakami M, Hovnanian A.

Exp Dermatol. 2014 Jan;23(1):60-3. doi: 10.1111/exd.12292.

PMID:
24372652
4.

Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.

Wada T, Matsuda Y, Muraoka M, Toma T, Takehara K, Fujimoto M, Yachie A.

Clin Genet. 2014 Oct;86(4):383-6. doi: 10.1111/cge.12294. Epub 2013 Oct 25.

PMID:
24116970
5.

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
6.

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.

7.

Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.

Jonca N, Leclerc EA, Caubet C, Simon M, Guerrin M, Serre G.

Eur J Dermatol. 2011 May;21 Suppl 2:35-42. doi: 10.1684/ejd.2011.1264. Review.

PMID:
21628128
8.

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.

Oji V, Eckl KM, Aufenvenne K, Nätebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nürnberg G, Fölster-Holst R, Schäfer-Korting M, Hausser I, Traupe H, Hennies HC.

Am J Hum Genet. 2010 Aug 13;87(2):274-81. doi: 10.1016/j.ajhg.2010.07.005.

9.

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.

Dávalos NO, García-Vargas A, Pforr J, Dávalos IP, Picos-Cárdenas VJ, García-Cruz D, Kruse R, Figuera LE, Nöthen MM, Betz RC.

Br J Dermatol. 2005 Dec;153(6):1216-9.

PMID:
16307662
10.

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.

Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nöthen MM, Pras E.

Nat Genet. 2003 Jun;34(2):151-3.

PMID:
12754508
11.

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.

Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E.

J Invest Dermatol. 2011 Mar;131(3):779-81. doi: 10.1038/jid.2010.363. Epub 2010 Dec 30. No abstract available.

12.

A founder deletion of corneodesmosin gene is prevalent in Japanese patients with peeling skin disease: Identification of 2 new cases.

Teye K, Suga Y, Numata S, Soejima M, Ishii N, Krol RP, Ohata C, Matsuda M, Honma M, Ishida-Yamamoto A, Hamada T, Koda Y, Hashimoto T.

J Dermatol Sci. 2016 May;82(2):134-7. doi: 10.1016/j.jdermsci.2016.01.012. Epub 2016 Jan 29. No abstract available.

PMID:
26867961
13.

Increased expression of caspase-1 and interleukin-18 in peeling skin disease, and a novel mutation of corneodesmosin.

Valentin F, Oji V, Hausser I, Liebau E, Tarinski T, Metze D, Breitkreutz D, Traupe H, Jonca N, Terheyden P.

Acta Derm Venereol. 2015 Nov;95(8):1019-21. doi: 10.2340/00015555-2142. No abstract available.

14.

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.

15.

[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].

Huang XS, Jiang HO, Quan QL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):452-4. doi: 10.3760/cma.j.issn.1003-9406.2012.04.016. Chinese.

PMID:
22875505
16.

A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis.

Sasaki T, Shiohama A, Kubo A, Kawasaki H, Ishida-Yamamoto A, Yamada T, Hachiya T, Shimizu A, Okano H, Kudoh J, Amagai M.

J Allergy Clin Immunol. 2013 Nov;132(5):1111-1120.e4. doi: 10.1016/j.jaci.2013.08.027. Epub 2013 Sep 20.

PMID:
24060273
17.

Corneodesmosin expression in psoriasis vulgaris differs from normal skin and other inflammatory skin disorders.

Allen M, Ishida-Yamamoto A, McGrath J, Davison S, Iizuka H, Simon M, Guerrin M, Hayday A, Vaughan R, Serre G, Trembath R, Barker J.

Lab Invest. 2001 Jul;81(7):969-76.

PMID:
11454986
18.

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
19.

Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology.

Matsumoto M, Zhou Y, Matsuo S, Nakanishi H, Hirose K, Oura H, Arase S, Ishida-Yamamoto A, Bando Y, Izumi K, Kiyonari H, Oshima N, Nakayama R, Matsushima A, Hirota F, Mouri Y, Kuroda N, Sano S, Chaplin DD.

Proc Natl Acad Sci U S A. 2008 May 6;105(18):6720-4. doi: 10.1073/pnas.0709345105. Epub 2008 Apr 24.

20.

Increased expression of epidermal thymic stromal lymphopoietin in inflammatory peeling skin syndrome.

Wada T, Toma T, Hamaguchi Y, Yachie A.

J Dermatol. 2014 May;41(5):448-9. doi: 10.1111/1346-8138.12449. Epub 2014 Mar 15. No abstract available.

PMID:
24628284

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