Literature DB >> 19991630

Acanthosis Nigricans.

G B Dowling, W Freudenthal.   

Abstract

Entities:  

Year:  1938        PMID： 19991630      PMCID： PMC2077003     

Source DB:  PubMed          Journal:  Proc R Soc Med        ISSN： 0035-9157


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  7 in total

1.  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

2.  Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Authors:  F Buket Basmanav; Ana-Maria Oprisoreanu; Sandra M Pasternack; Holger Thiele; Günter Fritz; Jörg Wenzel; Leopold Größer; Maria Wehner; Sabrina Wolf; Christina Fagerberg; Anette Bygum; Janine Altmüller; Arno Rütten; Laurent Parmentier; Laila El Shabrawi-Caelen; Christian Hafner; Peter Nürnberg; Roland Kruse; Susanne Schoch; Sandra Hanneken; Regina C Betz
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

3.  Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.

Authors:  Ming Li; Ruhong Cheng; Jianying Liang; Heng Yan; Hui Zhang; Lijia Yang; Chengrang Li; Qingqing Jiao; Zhiyong Lu; Jianhui He; Jin Ji; Zhu Shen; Chunqi Li; Fei Hao; Hong Yu; Zhirong Yao
Journal:  Am J Hum Genet       Date:  2013-05-16       Impact factor: 11.025

Review 4.  Multifaceted regulation of Notch signaling by glycosylation.

Authors:  Ashutosh Pandey; Nima Niknejad; Hamed Jafar-Nejad
Journal:  Glycobiology       Date:  2021-01-09       Impact factor: 4.313

5.  Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.

Authors:  Mingfei Chen; Yi Li; Hong Liu; Xi'an Fu; Yiongxiang Yu; Gongqi Yu; Chuan Wang; Fangfang Bao; Herty Liany; Zhenzhen Wang; Zhongxiang Shi; Dizhan Zhang; Guizhi Zhou; Jianjun Liu; Furen Zhang
Journal:  PLoS One       Date:  2014-08-26       Impact factor: 3.240

Review 6.  Structure, function, and pathology of protein O-glucosyltransferases.

Authors:  Muhammad Zubair Mehboob; Minglin Lang
Journal:  Cell Death Dis       Date:  2021-01-12       Impact factor: 8.469

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
  7 in total

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