Literature DB >> 21412258

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

Andrew E Pink, Michael A Simpson, Glen W Brice, Catherine H Smith, Nemesha Desai, Peter S Mortimer, Jonathan N W N Barker, Richard C Trembath.   

Abstract

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Year:  2011        PMID： 21412258     DOI： 10.1038/jid.2011.42

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


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  24 in total

Review 1.  The amyloid cascade hypothesis for Alzheimer's disease: an appraisal for the development of therapeutics.

Authors:  Eric Karran; Marc Mercken; Bart De Strooper
Journal:  Nat Rev Drug Discov       Date:  2011-08-19       Impact factor: 84.694

2.  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

Review 3.  Hydradenitis suppurativa and inflammatory bowel disease: An unusual, but existing association.

Authors:  Mariabeatrice Principi; Nicoletta Cassano; Antonella Contaldo; Andrea Iannone; Giuseppe Losurdo; Michele Barone; Mario Mastrolonardo; Gino Antonio Vena; Enzo Ierardi; Alfredo Di Leo
Journal:  World J Gastroenterol       Date:  2016-05-28       Impact factor: 5.742

Review 4.  Miscellaneous Perianal Afflictions.

Authors:  Gonzalo F Hagerman; Jorge Silva-Velazco; Juan Francisco Molina-Lopez
Journal:  Clin Colon Rectal Surg       Date:  2019-08-22

5.  Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

Authors:  Damian J Ralser; F Buket Ü Basmanav; Aylar Tafazzoli; Jade Wititsuwannakul; Sarah Delker; Sumita Danda; Holger Thiele; Sabrina Wolf; Michélle Busch; Susanne A Pulimood; Janine Altmüller; Peter Nürnberg; Didier Lacombe; Uwe Hillen; Jörg Wenzel; Jorge Frank; Benjamin Odermatt; Regina C Betz
Journal:  J Clin Invest       Date:  2017-03-13       Impact factor: 14.808

6.  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

7.  Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice.

Authors:  Hirotaka Watanabe; Dan Xia; Takahisa Kanekiyo; Raymond J Kelleher; Jie Shen
Journal:  J Neurosci       Date:  2012-04-11       Impact factor: 6.167

8.  [Acne inversa (hidradenitis suppurativa). From diagnosis to therapy].

Authors:  M Mühlstädt; F G Bechara; C Kunte
Journal:  Hautarzt       Date:  2013-01       Impact factor: 0.751

9.  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

10.  Loss of RBPj in postnatal excitatory neurons does not cause neurodegeneration or memory impairments in aged mice.

Authors:  Chihiro Sato; Mustafa Turkoz; Joshua T Dearborn; David F Wozniak; Raphael Kopan; Matthew R Hass
Journal:  PLoS One       Date:  2012-10-26       Impact factor: 3.240
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