Literature DB >> 26663538

Expanding the spectrum of γ-secretase gene mutation-associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata.

Uppala Ratnamala1,2, Devendrasinh Jhala3, Nayan K Jain2, Nazia M Saiyed4, Meda Raveendrababu3, Mandava V Rao3, Timir Y Mehta5, Faiza M Al-Ali6, Kavi Raval7, Sreelatha Nair8, Nair K Chandramohan9, Murali R Kuracha10, Swapan K Nath11, Uppala Radhakrishna12,13.   

Abstract

Entities:  

Keywords:  acne conglobata; acne inversa; hidradenitis suppurativa; mutations; γ-secretase

Mesh：

Substances：

Year:  2016        PMID： 26663538     DOI： 10.1111/exd.12911

Source DB:  PubMed          Journal:  Exp Dermatol        ISSN： 0906-6705            Impact factor:   3.960


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  10 in total

1.  A novel NCSTN gene mutation in a Chinese family with acne inversa.

Authors:  Chao Wu; Jun Yang; Shiyu Zhang; Jun Li; Hongzhong Jin; Xue Zhang
Journal:  Mol Genet Genomics       Date:  2018-07-20       Impact factor: 3.291

2.  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

3.  Proceeding report of the Second Symposium on Hidradenitis Suppurativa Advances (SHSA) 2017.

Authors:  Eran Shavit; Afsaneh Alavi; Falk G Bechara; Richard G Bennett; Marc Bourcier; Ricardo Cibotti; Steven Daveluy; John W Frew; Amit Garg; Iltefat Hamzavi; Lauren K Hoffman; Jenny Hsaio; Joslyn Sciacca Kirby; Hadar Lev-Tov; Erin Martinez; Robert Micheletti; Haley B Naik; Aude Nassif; Cynthia Nicholson; Angie Parks-Miller; Zarine Patel; Vincent Piguet; Mayur Ramesh; Barry Resnik; Christopher Sayed; Gregory Schultz; Aamir Siddiqui; Jerry Tan; Ximena Wortsman; Michelle A Lowes
Journal:  Exp Dermatol       Date:  2019-01       Impact factor: 3.960

4.  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

Review 5.  Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.

Authors:  Gautham Vellaichamy; Peter Dimitrion; Li Zhou; David Ozog; Henry W Lim; Wilson Liao; Iltefat H Hamzavi; Qing-Sheng Mi
Journal:  J Invest Dermatol       Date:  2021-04-07       Impact factor: 7.590

6.  Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.

Authors:  Cheng Zhou; Guang-Dong Wen; Lwin Myint Soe; Hong-Jun Xu; Juan Du; Jian-Zhong Zhang
Journal:  Chin Med J (Engl)       Date:  2016-12-05       Impact factor: 2.628

7.  A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.

Authors:  P J van der Spek; E P Prens; A R J V Vossen; K R van Straalen; S M A Swagemakers; J E M M de Klein; A P Stubbs; D J Venter; H H van der Zee
Journal:  J Eur Acad Dermatol Venereol       Date:  2020-03-12       Impact factor: 6.166

8.  Novel Mutation of the NCSTN Gene Identified in a Chinese Acne Inversa Family.

Authors:  Jing Wu; Huiyao Ge; Yiming Fan; Qi Zhen; Lili Tang; Liangdan Sun
Journal:  Ann Dermatol       Date:  2020-04-24       Impact factor: 1.444

Review 9.  The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Authors:  Nikolai Paul Pace; Dillon Mintoff; Isabella Borg
Journal:  Front Genet       Date:  2022-03-23       Impact factor: 4.599

10.  Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An in-silico study.

Authors:  Dillon Mintoff; Nikolai P Pace; Isabella Borg
Journal:  Front Genet       Date:  2022-09-02       Impact factor: 4.772
  10 in total

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