Literature DB >> 20503306

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.

Akio Tanaka1, Fanny Morice-Picard, Didier Lacombe, Nikoletta Nagy, Michihiro Hide, Alain Taïeb, John McGrath.   

Abstract

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Year:  2010        PMID： 20503306     DOI： 10.1002/ajmg.a.33455

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  11 in total

1.  Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Authors:  Carol Clericuzio; Karine Harutyunyan; Weidong Jin; Robert P Erickson; Alan D Irvine; W H Irwin McLean; Yaran Wen; Rochelle Bagatell; Thomas A Griffin; Tor A Shwayder; Sharon E Plon; Lisa L Wang
Journal:  Am J Med Genet A       Date:  2010-12-22       Impact factor: 2.802

2.  Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.

Authors:  Prakash Patil; Tamayo Uechi; Naoya Kenmochi
Journal:  RNA Biol       Date:  2015       Impact factor: 4.652

3.  Clinical utility gene card for: poikiloderma with neutropenia.

Authors:  Lidia Larizza; Gloria Negri; Elisa Adele Colombo; Ludovica Volpi; Yves Sznajer
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

Review 4.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

5.  C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.

Authors:  Seweryn Mroczek; Joanna Krwawicz; Jan Kutner; Michal Lazniewski; Iwo Kuciński; Krzysztof Ginalski; Andrzej Dziembowski
Journal:  Genes Dev       Date:  2012-08-16       Impact factor: 11.361

6.  Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

Authors:  Ayoub Aglaguel; Houria Abdelghaffar; Fatima Ailal; Norddine Habti; Sebastian Hesse; Naschla Kohistani; Christoph Klein; Ahmed Aziz Bousfiha
Journal:  J Clin Immunol       Date:  2017-03-28       Impact factor: 8.317

7.  Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Authors:  Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Kirwan; Inderjeet Dokal
Journal:  Hum Mol Genet       Date:  2010-09-03       Impact factor: 6.150

8.  Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.

Authors:  Elisa A Colombo; J Fernando Bazan; Gloria Negri; Cristina Gervasini; Nursel H Elcioglu; Deniz Yucelten; Ilknur Altunay; Umram Cetincelik; Anna Teti; Andrea Del Fattore; Matteo Luciani; Spencer K Sullivan; Albert C Yan; Ludovica Volpi; Lidia Larizza
Journal:  Orphanet J Rare Dis       Date:  2012-01-23       Impact factor: 4.123

9.  Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.

Authors:  Vincenzo Piccolo; Teresa Russo; Daniela Di Pinto; Elvira Pota; Martina Di Martino; Giulio Piluso; Andrea Ronchi; Giuseppe Argenziano; Eugenia Veronica Di Brizzi; Claudia Santoro
Journal:  Front Med (Lausanne)       Date:  2021-06-10

10.  A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.

Authors:  Elisa A Colombo; Silvia Carra; Laura Fontana; Erica Bresciani; Franco Cotelli; Lidia Larizza
Journal:  Sci Rep       Date:  2015-11-02       Impact factor: 4.379
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