Literature DB >> 15674778

The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

Silvère M van der Maarel1, Rune R Frants.   

Abstract

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Year:  2005        PMID： 15674778      PMCID： PMC1196390          DOI： 10.1086/428361

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  68 in total

1.  Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.

Authors:  Michel van Geel; Morag C Dickson; Amy F Beck; Daniel J Bolland; Rune R Frants; Silvère M van der Maarel; Pieter J de Jong; Jane E Hewitt
Journal:  Genomics       Date:  2002-02       Impact factor: 5.736

2.  Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

Authors:  Sara T Winokur; Yi-Wen Chen; Peter S Masny; Jorge H Martin; Jeffrey T Ehmsen; Stephen J Tapscott; Silvere M van der Maarel; Yukiko Hayashi; Kevin M Flanigan
Journal:  Hum Mol Genet       Date:  2003-09-30       Impact factor: 6.150

3.  Global chromosome positions are transmitted through mitosis in mammalian cells.

Authors:  Daniel Gerlich; Joël Beaudouin; Bernd Kalbfuss; Nathalie Daigle; Roland Eils; Jan Ellenberg
Journal:  Cell       Date:  2003-03-21       Impact factor: 41.582

4.  Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

Authors:  Peter S Masny; Ulla Bengtsson; Seung-Ah Chung; Jorge H Martin; Baziel van Engelen; Silvere M van der Maarel; Sara T Winokur
Journal:  Hum Mol Genet       Date:  2004-07-06       Impact factor: 6.150

5.  Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

Authors:  Richard J F L Lemmers; Mariëlle Wohlgemuth; Rune R Frants; George W Padberg; Eva Morava; Silvere M van der Maarel
Journal:  Am J Hum Genet       Date:  2004-10-04       Impact factor: 11.025

6.  Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains.

Authors:  J Flint; G P Bates; K Clark; A Dorman; D Willingham; B A Roe; G Micklem; D R Higgs; E J Louis
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

7.  The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes.

Authors:  R Lyle; T J Wright; L N Clark; J E Hewitt
Journal:  Genomics       Date:  1995-08-10       Impact factor: 5.736

8.  Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats.

Authors:  L Ballarati; I Piccini; L Carbone; N Archidiacono; A Rollier; A Marozzi; R Meneveri; E Ginelli
Journal:  Gene       Date:  2002-08-21       Impact factor: 3.688

9.  Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

Authors:  J R Gilbert; J M Stajich; S Wall; S C Carter; H Qiu; J M Vance; C S Stewart; M C Speer; J Pufky; L H Yamaoka
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

10.  Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy.

Authors:  M Funakoshi; K Goto; K Arahata
Journal:  Neurology       Date:  1998-06       Impact factor: 9.910
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  26 in total

1.  FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.

Authors:  Silvana van Koningsbruggen; Kirsten R Straasheijm; Ellen Sterrenburg; Natascha de Graaf; Hans G Dauwerse; Rune R Frants; Silvère M van der Maarel
Journal:  Chromosoma       Date:  2006-11-14       Impact factor: 4.316

2.  Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event.

Authors:  M Katharine Rudd; Raelynn M Endicott; Cynthia Friedman; Megan Walker; Janet M Young; Kazutoyo Osoegawa; Pieter J de Jong; Eric D Green; Barbara J Trask
Journal:  Genome Res       Date:  2008-10-24       Impact factor: 9.043

3.  [Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].

Authors:  B Jordan; C Müller-Reible; S Zierz
Journal:  Nervenarzt       Date:  2011-06       Impact factor: 1.214

4.  Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases.

Authors:  Cristina R Antonescu; Adepitan A Owosho; Lei Zhang; Sonja Chen; Kemal Deniz; Joseph M Huryn; Yu-Chien Kao; Shih-Chiang Huang; Samuel Singer; William Tap; Inga-Marie Schaefer; Christopher D Fletcher
Journal:  Am J Surg Pathol       Date:  2017-07       Impact factor: 6.394

5.  Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites.

Authors:  Qian Liu; Takako Iida Jones; Vivian W Tang; William M Brieher; Peter L Jones
Journal:  J Cell Sci       Date:  2010-03-09       Impact factor: 5.285

6.  A multinational study on motor function in early-onset FSHD.

Authors:  Jean K Mah; Jia Feng; Marni B Jacobs; Tina Duong; Kate Carroll; Katy de Valle; Cara L Carty; Lauren P Morgenroth; Michela Guglieri; Monique M Ryan; Paula R Clemens; Mathula Thangarajh; Richard Webster; Edward Smith; Anne M Connolly; Craig M McDonald; Peter Karachunski; Mar Tulinius; Amy Harper; Avital Cnaan; Yi-Wen Chen
Journal:  Neurology       Date:  2018-03-14       Impact factor: 9.910

7.  Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

Authors:  Peter S Masny; On Ying A Chan; Jessica C de Greef; Ulla Bengtsson; Melanie Ehrlich; Rabi Tawil; Leslie F Lock; Jane E Hewitt; Jennifer Stocksdale; Jorge H Martin; Silvere M van der Maarel; Sara T Winokur
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

Review 8.  Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy.

Authors:  Bo Bao; Rika Maruyama; Toshifumi Yokota
Journal:  Intractable Rare Dis Res       Date:  2016-08

9.  The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

Authors:  Alexandre Ottaviani; Sylvie Rival-Gervier; Amina Boussouar; Andrea M Foerster; Delphine Rondier; Sabrina Sacconi; Claude Desnuelle; Eric Gilson; Frédérique Magdinier
Journal:  PLoS Genet       Date:  2009-02-27       Impact factor: 5.917

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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