Literature DB >> 25211177

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

Xulun Zhang1, Sangram S Sisodia2.   

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Year:  2014        PMID： 25211177     DOI： 10.1038/jid.2014.399

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


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  12 in total

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

Authors:  Andrew E Pink; Michael A Simpson; Nemesha Desai; Dimitra Dafou; Alison Hills; Peter Mortimer; Catherine H Smith; Richard C Trembath; Jonathan N W Barker
Journal:  J Invest Dermatol       Date:  2012-05-24       Impact factor: 8.551

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

Authors:  C Zhang; L Wang; L Chen; W Ren; A Mei; X Chen; Y Deng
Journal:  J Eur Acad Dermatol Venereol       Date:  2012-07-03       Impact factor: 6.166

3.  Gamma-secretase gene mutations in familial acne inversa.

Authors:  Baoxi Wang; Wei Yang; Wen Wen; Jing Sun; Bin Su; Bo Liu; Donglai Ma; Dan Lv; Yaran Wen; Tao Qu; Min Chen; Miao Sun; Yan Shen; Xue Zhang
Journal:  Science       Date:  2010-10-07       Impact factor: 47.728

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

Authors:  C-R Li; M-J Jiang; D-B Shen; H-X Xu; H-S Wang; X Yao; Y Zhang; W-Q Zhou; B Wang
Journal:  Br J Dermatol       Date:  2011-08       Impact factor: 9.302

Review 5.  Notch signaling: the core pathway and its posttranslational regulation.

Authors:  Mark E Fortini
Journal:  Dev Cell       Date:  2009-05       Impact factor: 12.270

Review 6.  Hidradenitis suppurativa: a comprehensive review.

Authors:  Ali Alikhan; Peter J Lynch; Daniel B Eisen
Journal:  J Am Acad Dermatol       Date:  2009-04       Impact factor: 11.527

7.  Nicastrin is critical for stability and trafficking but not association of other presenilin/gamma-secretase components.

Authors:  Yun-wu Zhang; Wen-jie Luo; Hong Wang; Ping Lin; Kulandaivelu S Vetrivel; Fang Liao; Feng Li; Philip C Wong; Marilyn G Farquhar; Gopal Thinakaran; Huaxi Xu
Journal:  J Biol Chem       Date:  2005-02-11       Impact factor: 5.157

8.  Calcium depletion dissociates and activates heterodimeric notch receptors.

Authors:  M D Rand; L M Grimm; S Artavanis-Tsakonas; V Patriub; S C Blacklow; J Sklar; J C Aster
Journal:  Mol Cell Biol       Date:  2000-03       Impact factor: 4.272

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.  Notch signaling inhibits muscle cell differentiation through a CBF1-independent pathway.

Authors:  C Shawber; D Nofziger; J J Hsieh; C Lindsell; O Bögler; D Hayward; G Weinmaster
Journal:  Development       Date:  1996-12       Impact factor: 6.868
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  8 in total

1.  Nicastrin haploinsufficiency alters expression of type I interferon-stimulated genes: the relationship to familial hidradenitis suppurativa.

Authors:  L Cao; D J Morales-Heil; E D O Roberson
Journal:  Clin Exp Dermatol       Date:  2019-01-17       Impact factor: 3.470

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.  Evidence That the "Lid" Domain of Nicastrin Is Not Essential for Regulating γ-Secretase Activity.

Authors:  Xulun Zhang; Eric Sullivan; Maggie Scimeca; Xianzhong Wu; Yue-Ming Li; Sangram S Sisodia
Journal:  J Biol Chem       Date:  2016-02-17       Impact factor: 5.157

Review 4.  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

Review 5.  Presenilins and γ-Secretase in Membrane Proteostasis.

Authors:  Naoto Oikawa; Jochen Walter
Journal:  Cells       Date:  2019-03-01       Impact factor: 6.600

6.  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

Review 7.  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

8.  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
  8 in total

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