Literature DB >> 18974002

Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy.

Petr Dmitriev1, Marc Lipinski, Yegor S Vassetzky.   

Abstract

Despite the discovery of the deletion on the long arm of the chromosome 4 specific for facioscapulohumeral muscular dystrophy (FSHD), the identity of the gene responsible for the disease still remains a mystery. In this review we focus on two genes, DUX4 and DUX4c, encoded by the D4Z4 repeats present in the 4q35 locus, which is affected in the disease.

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Year:  2008        PMID： 18974002     DOI： 10.1016/j.nmd.2008.09.004

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  18 in total

1.  The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy.

Authors:  Petr Dmitriev; Andrei Petrov; Eugenie Ansseau; Luiza Stankevicins; Sébastien Charron; Elena Kim; Tomas Jan Bos; Thomas Robert; Ahmed Turki; Frédérique Coppée; Alexandra Belayew; Vladimir Lazar; Gilles Carnac; Dalila Laoudj; Marc Lipinski; Yegor S Vassetzky
Journal:  J Biol Chem       Date:  2011-09-21       Impact factor: 5.157

Review 2.  Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.

Authors:  Silvère M van der Maarel; Rabi Tawil; Stephen J Tapscott
Journal:  Trends Mol Med       Date:  2011-02-01       Impact factor: 11.951

3.  Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.

Authors:  Petr Dmitriev; Luiza Stankevicins; Eugenie Ansseau; Andrei Petrov; Ana Barat; Philippe Dessen; Thomas Robert; Ahmed Turki; Vladimir Lazar; Emmanuel Labourer; Alexandra Belayew; Gilles Carnac; Dalila Laoudj-Chenivesse; Marc Lipinski; Yegor S Vassetzky
Journal:  J Biol Chem       Date:  2013-10-20       Impact factor: 5.157

4.  New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Authors:  Mouna Barat-Houari; Karine Nguyen; Rafaëlle Bernard; Céline Fernandez; Catherine Vovan; Corinne Bareil; Philippe Khau Van Kien; Delphine Thorel; Sylvie Tuffery-Giraud; Francis Vasseur; Shahram Attarian; Jean Pouget; Anne Girardet; Nicolas Lévy; Mireille Claustres
Journal:  Eur J Hum Genet       Date:  2009-11-25       Impact factor: 4.246

Review 5.  Eukaryotic enhancers: common features, regulation, and participation in diseases.

Authors:  Maksim Erokhin; Yegor Vassetzky; Pavel Georgiev; Darya Chetverina
Journal:  Cell Mol Life Sci       Date:  2015-02-26       Impact factor: 9.261

Review 6.  Control of DNA integrity in skeletal muscle under physiological and pathological conditions.

Authors:  Yara Bou Saada; Vlada Zakharova; Boris Chernyak; Carla Dib; Gilles Carnac; Svetlana Dokudovskaya; Yegor S Vassetzky
Journal:  Cell Mol Life Sci       Date:  2017-04-25       Impact factor: 9.261

7.  DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.

Authors:  Natalia P Kisseljova; Petr Dmitriev; Alexey Katargin; Elena Kim; Daria Ezerina; Diana Markozashvili; Daria Malysheva; Emmeline Planche; Richard J L F Lemmers; Silvère M van der Maarel; Dalila Laoudj-Chenivesse; Marc Lipinski; Yegor S Vassetzky
Journal:  Eur J Hum Genet       Date:  2014-01-22       Impact factor: 4.246

8.  FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis).

Authors:  Christopher E Pearson
Journal:  PLoS Genet       Date:  2010-10-28       Impact factor: 5.917

9.  Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation.

Authors:  Cecilia Ostlund; Tinglu Guan; Denise A Figlewicz; Arthur P Hays; Howard J Worman; Larry Gerace; Eric C Schirmer
Journal:  Biochem Biophys Res Commun       Date:  2009-08-28       Impact factor: 3.575

10.  DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.

Authors:  Eugénie Ansseau; Dalila Laoudj-Chenivesse; Aline Marcowycz; Alexandra Tassin; Céline Vanderplanck; Sébastien Sauvage; Marietta Barro; Isabelle Mahieu; Axelle Leroy; India Leclercq; Véronique Mainfroid; Denise Figlewicz; Vincent Mouly; Gillian Butler-Browne; Alexandra Belayew; Frédérique Coppée
Journal:  PLoS One       Date:  2009-10-15       Impact factor: 3.240
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