Literature DB >> 33836848

Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.

Gautham Vellaichamy1, Peter Dimitrion2, Li Zhou3, David Ozog4, Henry W Lim4, Wilson Liao5, Iltefat H Hamzavi4, Qing-Sheng Mi6.   

Abstract

Hidradenitis suppurativa (HS) is a chronic, relapsing, and remitting inflammatory disease of the skin with significant heritability and racial disposition. The pathogenesis of HS remains enigmatic, but occlusion of the terminal hair follicle and dysregulation of the local innate immune response may contribute to pathogenesis. Genetic predisposition might also contribute to disease susceptibility and phenotypic heterogeneity because mutations in γ-secretase have been found to underlie a minor but characteristic subset of patients with HS. In this review, we synthesized the current data on γ-secretase in HS, evaluated its importance in the context of disease pathobiology, and discussed avenues of future studies.
Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Substances:

Year:  2021        PMID: 33836848      PMCID: PMC8316262          DOI: 10.1016/j.jid.2021.01.023

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   7.590


  90 in total

1.  Nicastrin mutations in French families with hidradenitis suppurativa.

Authors:  Snaigune Miskinyte; Aude Nassif; Fatiha Merabtene; Marie-Noëlle Ungeheuer; Olivier Join-Lambert; Jean-Philippe Jais; Alain Hovnanian
Journal:  J Invest Dermatol       Date:  2012-02-23       Impact factor: 8.551

2.  Characterization of a Novel Mutation in the NCSTN Gene in a Large Chinese Family with Acne Inversa.

Authors:  Shide Zhang; Jin Meng; Miao Jiang; Jingjun Zhao
Journal:  Acta Derm Venereol       Date:  2016-03       Impact factor: 4.437

3.  Genetic analysis of NCSTN for potential association with hidradenitis suppurativa in familial and nonfamilial patients.

Authors:  M Liu; J W Davis; K B Idler; N M Mostafa; M M Okun; J F Waring
Journal:  Br J Dermatol       Date:  2016-06-10       Impact factor: 9.302

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

Authors:  Yuan Liu; Min Gao; Yong-mei Lv; Xu Yang; Yun-qing Ren; Tao Jiang; Xin Zhang; Bi-rong Guo; Min Li; Qing Zhang; Peng Zhang; Fu-sheng Zhou; Gang Chen; Xian-yong Yin; Xian-bo Zuo; Liang-dan Sun; Xiao-dong Zheng; Shu-mei Zhang; Jian-jun Liu; Youwen Zhou; Ying-rui Li; Jun Wang; Jian Wang; Huan-ming Yang; Sen Yang; Rui-qiang Li; Xue-jun Zhang
Journal:  J Invest Dermatol       Date:  2011-03-24       Impact factor: 8.551

5.  Safety profile of semagacestat, a gamma-secretase inhibitor: IDENTITY trial findings.

Authors:  David B Henley; Karen L Sundell; Gopalan Sethuraman; Sherie A Dowsett; Patrick C May
Journal:  Curr Med Res Opin       Date:  2014-07-14       Impact factor: 2.580

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

Authors:  Sean Chen; Peter Mattei; Jing You; Nara L Sobreira; Ginette A Hinds
Journal:  JAMA Dermatol       Date:  2015-06       Impact factor: 10.282

7.  Inter-rater reliability of phenotypes and exploratory genotype-phenotype analysis in inherited hidradenitis suppurativa.

Authors:  J W Frew; J E Hawkes; M Sullivan-Whalen; P Gilleaudeau; J G Krueger
Journal:  Br J Dermatol       Date:  2019-04-19       Impact factor: 9.302

8.  Mutations in the γ-secretase genes PSEN1, PSENEN, and NCSTN in a family with acne inversa.

Authors:  Tian-Wei Shi; Nan Bai; Jiang-An Zhang; Feng Lu; Xiao-Bing Chen; Xiang-Dong Kong; Jian-Bin Yu
Journal:  Eur J Dermatol       Date:  2018-06-01       Impact factor: 3.328

Review 9.  γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

Authors:  Andrew E Pink; Michael A Simpson; Nemesha Desai; Richard C Trembath; Jonathan N W Barker
Journal:  J Invest Dermatol       Date:  2012-10-25       Impact factor: 8.551

10.  A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.

Authors:  T Takeichi; T Matsumoto; T Nomura; M Takeda; H Niwa; M Kono; H Shimizu; T Ogi; M Akiyama
Journal:  Br J Dermatol       Date:  2019-10-13       Impact factor: 9.302

View more
  1 in total

1.  Recent advances in hidradenitis suppurativa: Role of race, genetics, and immunology.

Authors:  Gautham Vellaichamy; Anya T Amin; Peter Dimitrion; Zaakir Hamzavi; Li Zhou; Indra Adrianto; Qing-Sheng Mi
Journal:  Front Genet       Date:  2022-08-26       Impact factor: 4.772

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.