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Items: 1 to 20 of 106

1.

Two novel mutations of the NCSTN gene in Chinese familial acne inverse.

Zhang C, Wang L, Chen L, Ren W, Mei A, Chen X, Deng Y.

J Eur Acad Dermatol Venereol. 2013 Dec;27(12):1571-4. doi: 10.1111/j.1468-3083.2012.04627.x. Epub 2012 Jul 3.

PMID:
22759192
2.

Two novel mutations of the nicastrin gene in Chinese patients with acne inversa.

Li CR, Jiang MJ, Shen DB, Xu HX, Wang HS, Yao X, Zhang Y, Zhou WQ, Wang B.

Br J Dermatol. 2011 Aug;165(2):415-8. doi: 10.1111/j.1365-2133.2011.10372.x.

PMID:
21495993
3.

Gamma-secretase gene mutations in familial acne inversa.

Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X.

Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7.

4.

Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).

Pink AE, Simpson MA, Desai N, Dafou D, Hills A, Mortimer P, Smith CH, Trembath RC, Barker JN.

J Invest Dermatol. 2012 Oct;132(10):2459-61. doi: 10.1038/jid.2012.162. Epub 2012 May 24. No abstract available.

5.

A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.

Nomura Y, Nomura T, Sakai K, Sasaki K, Ohguchi Y, Mizuno O, Hata H, Aoyagi S, Abe R, Itaya Y, Akiyama M, Shimizu H.

Br J Dermatol. 2013 Jan;168(1):206-9. doi: 10.1111/j.1365-2133.2012.11174.x.

PMID:
22834455
6.

PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

Pink AE, Simpson MA, Brice GW, Smith CH, Desai N, Mortimer PS, Barker JN, Trembath RC.

J Invest Dermatol. 2011 Jul;131(7):1568-70. doi: 10.1038/jid.2011.42. Epub 2011 Mar 17. No abstract available.

7.

γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

Pink AE, Simpson MA, Desai N, Trembath RC, Barker JN.

J Invest Dermatol. 2013 Mar;133(3):601-7. doi: 10.1038/jid.2012.372. Epub 2012 Oct 25. Review.

8.

Acne inversa caused by missense mutations in NCSTN is not fully compatible with impairments in Notch signaling.

Zhang X, Sisodia SS.

J Invest Dermatol. 2015 Feb;135(2):618-20. doi: 10.1038/jid.2014.399. Epub 2014 Sep 11. No abstract available.

9.

Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).

Liu Y, Gao M, Lv YM, Yang X, Ren YQ, Jiang T, Zhang X, Guo BR, Li M, Zhang Q, Zhang P, Zhou FS, Chen G, Yin XY, Zuo XB, Sun LD, Zheng XD, Zhang SM, Liu JJ, Zhou Y, Li YR, Wang J, Wang J, Yang HM, Yang S, Li RQ, Zhang XJ.

J Invest Dermatol. 2011 Jul;131(7):1570-2. doi: 10.1038/jid.2011.62. Epub 2011 Mar 24. No abstract available.

10.

Absence of pathogenic γ-secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa).

Ingram JR, Wood M, John B, Butler R, Anstey AV.

Br J Dermatol. 2013 Apr;168(4):874-6. doi: 10.1111/bjd.12048. Epub 2013 Mar 7. No abstract available.

PMID:
23013355
11.

A novel NCSTN mutation alone may be insufficient for the development of familial hidradenitis suppurativa.

Nomura Y, Nomura T, Suzuki S, Takeda M, Mizuno O, Ohguchi Y, Abe R, Murata Y, Shimizu H.

J Dermatol Sci. 2014 May;74(2):180-2. doi: 10.1016/j.jdermsci.2014.01.013. Epub 2014 Feb 7. No abstract available.

PMID:
24581508
12.

A novel nicastrin mutation in a large Chinese family with hidradenitis suppurativa.

Jiao T, Dong H, Jin L, Wang S, Wang J.

Br J Dermatol. 2013 May;168(5):1141-3. doi: 10.1111/bjd.12135. Epub 2013 Mar 21. No abstract available.

PMID:
23517242
13.

γ-Secretase Mutation and Consequently Immune Reaction Involved in Pathogenesis of Acne Inversa.

Wang B.

J Investig Dermatol Symp Proc. 2015 Jul;17(1):25. doi: 10.1038/jidsymp.2015.21. No abstract available.

PMID:
26067312
14.

γ-Secretase gene mutations link acne inversa with Alzheimer's disease.

Anstey AV.

Br J Dermatol. 2011 Feb;164(2):235-6. doi: 10.1111/j.1365-2133.2011.10221.x. No abstract available.

PMID:
21271991
15.

Nicastrin mutations in French families with hidradenitis suppurativa.

Miskinyte S, Nassif A, Merabtene F, Ungeheuer MN, Join-Lambert O, Jais JP, Hovnanian A.

J Invest Dermatol. 2012 Jun;132(6):1728-30. doi: 10.1038/jid.2012.23. Epub 2012 Feb 23. No abstract available.

16.

γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa.

Chen S, Mattei P, You J, Sobreira NL, Hinds GA.

JAMA Dermatol. 2015 Jun;151(6):668-70. doi: 10.1001/jamadermatol.2014.5306. No abstract available. Erratum in: JAMA Dermatol. 2015 Jun;151(6):680.

PMID:
25693063
17.

The aetiology of acne inversa: an evolving story.

Ingram JR.

Br J Dermatol. 2011 Aug;165(2):231-2. doi: 10.1111/j.1365-2133.2011.10459.x. No abstract available.

PMID:
21777213
18.

Impaired Notch signalling: the unifying mechanism explaining the pathogenesis of hidradenitis suppurativa (acne inversa).

Melnik BC, Plewig G.

Br J Dermatol. 2013 Apr;168(4):876-8. doi: 10.1111/bjd.12068. Epub 2013 Jan 31. No abstract available.

PMID:
23020871
19.

First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome.

Duchatelet S, Miskinyte S, Join-Lambert O, Ungeheuer MN, Francès C, Nassif A, Hovnanian A.

Br J Dermatol. 2015 Aug;173(2):610-2. doi: 10.1111/bjd.13668. Epub 2015 Jun 11. No abstract available.

PMID:
25601011
20.

A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.

Gu JM, Ke YH, Yue H, Liu YJ, Zhang Z, Zhang H, Hu WW, Wang C, He JW, Hu YQ, Li M, Fu WZ, Zhang ZL.

Bone. 2013 Jan;52(1):9-16. doi: 10.1016/j.bone.2012.09.012. Epub 2012 Sep 19.

PMID:
23000505
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