Literature DB >> 12355084

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.

Richard J L F Lemmers1, Peggy de Kievit, Lodewijk Sandkuijl, George W Padberg, Gert-Jan B van Ommen, Rune R Frants, Silvère M van der Maarel.   

Abstract

Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele.

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Year:  2002        PMID： 12355084     DOI： 10.1038/ng999

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  113 in total

1.  Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts.

Authors:  Andrei Petrov; Iryna Pirozhkova; Gilles Carnac; Dalila Laoudj; Marc Lipinski; Yegor S Vassetzky
Journal:  Proc Natl Acad Sci U S A       Date:  2006-04-21       Impact factor: 11.205

Review 2.  Facioscapulohumeral muscular dystrophy.

Authors:  Rabi Tawil
Journal:  Curr Neurol Neurosci Rep       Date:  2004-01       Impact factor: 5.081

3.  Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy.

Authors:  Fan Yang; Chunbo Shao; Vettaikorumakankav Vedanarayanan; Melanie Ehrlich
Journal:  Chromosoma       Date:  2004-05-11       Impact factor: 4.316

4.  Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.

Authors:  Richard J L F Lemmers; Petra G M Van Overveld; Lodewijk A Sandkuijl; Harry Vrieling; George W Padberg; Rune R Frants; Silvère M van der Maarel
Journal:  Am J Hum Genet       Date:  2004-05-20       Impact factor: 11.025

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.  Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Authors:  Zhi-Qiang Wang; Ning Wang; Silvere van der Maarel; Shen-Xing Murong; Zhi-Ying Wu
Journal:  Eur J Hum Genet       Date:  2010-08-25       Impact factor: 4.246

7.  Clinical features of facioscapulohumeral muscular dystrophy 2.

Authors:  J C de Greef; R J L F Lemmers; P Camaño; J W Day; S Sacconi; M Dunand; B G M van Engelen; S Kiuru-Enari; G W Padberg; A L Rosa; C Desnuelle; S Spuler; M Tarnopolsky; S L Venance; R R Frants; S M van der Maarel; R Tawil
Journal:  Neurology       Date:  2010-10-26       Impact factor: 9.910

8.  A unifying genetic model for facioscapulohumeral muscular dystrophy.

Authors:  Richard J L F Lemmers; Patrick J van der Vliet; Rinse Klooster; Sabrina Sacconi; Pilar Camaño; Johannes G Dauwerse; Lauren Snider; Kirsten R Straasheijm; Gert Jan van Ommen; George W Padberg; Daniel G Miller; Stephen J Tapscott; Rabi Tawil; Rune R Frants; Silvère M van der Maarel
Journal:  Science       Date:  2010-08-19       Impact factor: 47.728

Review 9.  The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

Authors:  Silvère M van der Maarel; Rune R Frants
Journal:  Am J Hum Genet       Date:  2005-01-24       Impact factor: 11.025

10.  DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.

Authors:  Manjusha Dixit; Eugénie Ansseau; Alexandra Tassin; Sara Winokur; Rongye Shi; Hong Qian; Sébastien Sauvage; Christel Mattéotti; Anne M van Acker; Oberdan Leo; Denise Figlewicz; Marietta Barro; Dalila Laoudj-Chenivesse; Alexandra Belayew; Frédérique Coppée; Yi-Wen Chen
Journal:  Proc Natl Acad Sci U S A       Date:  2007-11-05       Impact factor: 11.205
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