Literature DB >> 22622421

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

Andrew E Pink1, Michael A Simpson1, Nemesha Desai2, Dimitra Dafou1, Alison Hills3, Peter Mortimer4, Catherine H Smith2, Richard C Trembath5, Jonathan N W Barker6.   

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Year:  2012        PMID： 22622421     DOI： 10.1038/jid.2012.162

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  30 in total

1.  Clinical characteristics of pediatric hidradenitis suppurativa: a cross-sectional multicenter study of 140 patients.

Authors:  Peter Theut Riis; Ditte Marie Saunte; Viktoria Sigsgaard; Axel Patrice Villani; Philippe Guillem; José C Pascual; Naomi N Kappe; Annika M J D Vanlaerhoven; Hessel H van der Zee; Errol P Prens; Moetaz El-Domyati; Hossam Abdel-Wahab; Nayera Moftah; Rania Abdelghani; Eugenia Agut-Busquet; Jorge Romaní; Carol Hlela; Lerinza van den Worm; Vincenzo Bettoli; Giada Calamo; Mehmet Ali Gürer; Burcu Beksaç; Lukasz Matusiak; Amelia Glowaczewska; Jacek C Szepietowski; Lennart Emtestam; Jan Lapins; Hassan Riad Kottb; Mohammad Fatani; Lisa Weibel; Martin Theiler; Maïa Delage-Toriel; Thi Thanh Hong Lam; Aude Nassif; Pierre-Andre Becherel; Mateja Dolenc-Voljc; Nejib Doss; Dorra Bouazzi; Farida Benhadou; Veronique Del Marmol; Gregor B E Jemec
Journal:  Arch Dermatol Res       Date:  2020-03-12       Impact factor: 3.017

Review 2.  [Hidradenitis suppurativa/acne inversa: An update].

Authors:  J Kirschke; S Hessam; F G Bechara
Journal:  Hautarzt       Date:  2015-06       Impact factor: 0.751

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

Authors:  Xulun Zhang; Sangram S Sisodia
Journal:  J Invest Dermatol       Date:  2014-09-11       Impact factor: 8.551

4.  Aerobic and Anaerobic Bacteriology of Hidradenitis Suppurativa: A Study of 22 Cases.

Authors:  Alexandros C Katoulis; Dimitra Koumaki; Aikaterini I Liakou; Georgia Vrioni; Vasiliki Koumaki; Dimitra Kontogiorgi; Korina Tzima; Athanasios Tsakris; Dimitris Rigopoulos
Journal:  Skin Appendage Disord       Date:  2015-05-28

5.  Analysis of nicastrin gene phylogeny and expression in zebrafish.

Authors:  Anne Lim; Seyyed Hani Moussavi Nik; Esmaeil Ebrahimie; Michael Lardelli
Journal:  Dev Genes Evol       Date:  2015-05-05       Impact factor: 0.900

Review 6.  The critical role of macrophages in the pathogenesis of hidradenitis suppurativa.

Authors:  Ahmed Shah; Raed Alhusayen; Saeid Amini-Nik
Journal:  Inflamm Res       Date:  2017-06-27       Impact factor: 4.575

7.  Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.

Authors:  Airong Li; Yang Peng; Lauren M Taiclet; Rudolph E Tanzi
Journal:  Hum Mol Genet       Date:  2019-04-01       Impact factor: 6.150

Review 8.  Medical and Surgical Treatment of Hidradenitis Suppurativa: A Review.

Authors:  Nicolò Scuderi; Ambra Monfrecola; Luca Andrea Dessy; Gabriella Fabbrocini; Matteo Megna; Giuseppe Monfrecola
Journal:  Skin Appendage Disord       Date:  2017-03-21

Review 9.  Hidradenitis suppurativa.

Authors:  Robert Sabat; Gregor B E Jemec; Łukasz Matusiak; Alexa B Kimball; Errol Prens; Kerstin Wolk
Journal:  Nat Rev Dis Primers       Date:  2020-03-12       Impact factor: 52.329

10.  γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.

Authors:  Zhongshuai Wang; Yan Yan; Baoxi Wang
Journal:  Dermatology       Date:  2020-12-17       Impact factor: 5.366
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