Literature DB >> 25229252

Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.

F Buket Basmanav1, Günter Fritz2, Gilles G Lestringant3, Divya Pachat4, Sabine Hoffjan5, Johannes Fischer1, Maria Wehner1, Sabrina Wolf1, Holger Thiele6, Janine Altmüller7, Susanne A Pulimood8, Arno Rütten9, Roland Kruse10, Sandra Hanneken11, Jorge Frank12, Sumita Danda4, Anette Bygum13, Regina C Betz14.   

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Year:  2014        PMID： 25229252     DOI： 10.1038/jid.2014.406

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


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  11 in total

1.  Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap.

Authors:  Jennifer C Tang; Julia Escandon; Michael Shiman; Brian Berman
Journal:  J Clin Aesthet Dermatol       Date:  2012-05

2.  Reticulate acropigmentation of Kitamura.

Authors:  W A Griffiths
Journal:  Br J Dermatol       Date:  1976-10       Impact factor: 9.302

3.  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

4.  Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis.

Authors:  Zhu Shen; Ling Chen; Qingyi Ye; Fei Hao; Modesto dos Santos Vitorino; Xichuan Yang; Baiyu Zhong
Journal:  Cutis       Date:  2011-02

5.  Modification of epidermal growth factor-like repeats with O-fucose. Molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase.

Authors:  Y Wang; L Shao; S Shi; R J Harris; M W Spellman; P Stanley; R S Haltiwanger
Journal:  J Biol Chem       Date:  2001-08-27       Impact factor: 5.157

6.  Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations.

Authors:  G P Thami; R Jaswal; A J Kanwar; B D Radotra; I P Singh
Journal:  Dermatology       Date:  1998       Impact factor: 5.366

7.  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

8.  Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease.

Authors:  N H Cox; E Long
Journal:  Br J Dermatol       Date:  1991-08       Impact factor: 9.302

9.  Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

Authors:  Regina C Betz; Laura Planko; Sibylle Eigelshoven; Sandra Hanneken; Sandra M Pasternack; Heinrich Bussow; Kris Van Den Bogaert; Joerg Wenzel; Markus Braun-Falco; Arno Rutten; Michael A Rogers; Thomas Ruzicka; Markus M Nöthen; Thomas M Magin; Roland Kruse
Journal:  Am J Hum Genet       Date:  2006-01-19       Impact factor: 11.025

10.  Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.

Authors:  Michihiro Kono; Kazumitsu Sugiura; Mutsumi Suganuma; Masahiro Hayashi; Hiromichi Takama; Tamio Suzuki; Kayoko Matsunaga; Yasushi Tomita; Masashi Akiyama
Journal:  Hum Mol Genet       Date:  2013-05-10       Impact factor: 6.150
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  5 in total

1.  Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.

Authors:  Damian J Ralser; Hideyuki Takeuchi; Günter Fritz; F Buket Basmanav; Maike Effern; Sugirthan Sivalingam; Laila El-Shabrawi-Caelen; Ece N Degirmentepe; Emek Kocatürk; Manuraj Singh; Nina Booken; Natalia M K Spierings; Viktor Schnabel; Andre Heineke; Jana Knuever; Sabrina Wolf; Maria Wehner; Michael Tronnier; Martin Leverkus; Iliana Tantcheva-Poór; Jörg Wenzel; Vinzenz Oji; Cristina Has; Michael Hölzel; Jorge Frank; Robert S Haltiwanger; Regina C Betz
Journal:  J Invest Dermatol       Date:  2018-11-09       Impact factor: 8.551

2.  Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.

Authors:  Brian J McMillan; Brandon Zimmerman; Emily D Egan; Michael Lofgren; Xiang Xu; Anthony Hesser; Stephen C Blacklow
Journal:  Glycobiology       Date:  2017-08-01       Impact factor: 4.313

3.  Other Types of Glycosylation.

Authors:  Yohei Tsukamoto; Hideyuki Takeuchi
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 3.650

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

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

5.  Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.

Authors:  N J Wilson; C Cole; K Kroboth; W N Hunter; J A Mann; W H I McLean; K Kernland Lang; H Beltraminelli; R A Sabroe; N Tiffin; G J Sobey; L Borradori; E Simpson; F J D Smith
Journal:  Br J Dermatol       Date:  2016-09-24       Impact factor: 9.302
  5 in total

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