Literature DB >> 29274243

Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder.

I González-Villanueva1, M Gutiérrez2, P Hispán1, I Betlloch1, J C Pascual1.   

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Year:  2018        PMID： 29274243     DOI： 10.1111/bjd.16264

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  8 in total

Review 1.  Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease.

Authors:  María Del Mar; Meléndez González; Christopher Sayed; Pushkar Phadke
Journal:  J Clin Aesthet Dermatol       Date:  2020-12-01

2.  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

3.  Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions.

Authors:  Lihi Atzmony; Theodore D Zaki; Richard J Antaya; Keith A Choate
Journal:  Am J Med Genet A       Date:  2019-09-30       Impact factor: 2.802

4.  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 5.  Multiple roles for O-glycans in Notch signalling.

Authors:  Shweta Varshney; Pamela Stanley
Journal:  FEBS Lett       Date:  2018-11-28       Impact factor: 4.124

Review 6.  Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease.

Authors:  Toshifumi Nomura
Journal:  Front Immunol       Date:  2020-05-20       Impact factor: 7.561

7.  Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature.

Authors:  Ya-Nin Nokdhes; Thanachat Rutnumnoi; Poramin Patthamalai; Charussri Leeyaphan
Journal:  Case Rep Dermatol       Date:  2021-11-29

Review 8.  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 in total

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