نتایج جستجو برای: d4z4

تعداد نتایج: 154  

2015
Emmanuelle Salort-Campana Karine Nguyen Rafaelle Bernard Elisabeth Jouve Guilhem Solé Aleksandra Nadaj-Pakleza Julien Niederhauser Estelle Charles Elisabeth Ollagnon Françoise Bouhour Sabrina Sacconi Andoni Echaniz-Laguna Claude Desnuelle Christine Tranchant Christophe Vial Frederique Magdinier Marc Bartoli Marie-Christine Arne-Bes Xavier Ferrer Thierry Kuntzer Nicolas Levy Jean Pouget Shahram Attarian

BACKGROUND Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging between 6 to10 RUs and to evaluate the influence of sex...

2012
Alexandra Tassin Baptiste Leroy Dalila Laoudj-Chenivesse Armelle Wauters Céline Vanderplanck Marie-Catherine Le Bihan Frédérique Coppée Ruddy Wattiez Alexandra Belayew

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder linked to a contraction of the D4Z4 repeat array in the 4q35 subtelomeric region. This deletion induces epigenetic modifications that affect the expression of several genes located in the vicinity. In each D4Z4 element, we identified the double homeobox 4 (DUX4) gene. DUX4 expresses a transcription factor that plays ...

Journal: :Molecular cancer research : MCR 2004
Daniel J Weisenberger Mihaela Velicescu Jonathan C Cheng Felicidad A Gonzales Gangning Liang Peter A Jones

Several alternatively spliced variants of DNA methyltransferase (DNMT) 3b have been described. Here, we identified new murine Dnmt3b mRNA isoforms and found that mouse embryonic stem (ES) cells expressed only Dnmt3b transcripts that contained exons 10 and 11, whereas the Dnmt3b transcripts in somatic cells lacked these exons, suggesting that this region is important for embryonic development. D...

2013
Vishakha Sharma Naoe Harafuji Alexandra Belayew Yi-Wen Chen

Facioscapulohumeral muscular dystrophy (FSHD) is linked to the deletion of the D4Z4 arrays at chromosome 4q35. Recent studies suggested that aberrant expression of double homeobox 4 (DUX4) from the last D4Z4 repeat causes FSHD. The aim of this study is to determine transcriptomic responses to ectopically expressed DUX4 in human and mouse cells of muscle lineage. We expression profiled human rha...

2013
Naoe Harafuji Peter Schneiderat Maggie C Walter Yi-Wen Chen

BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder, which is linked to the contraction of the D4Z4 array at chromosome 4q35. Recent studies suggest that this shortening of the D4Z4 array leads to aberrant expression of double homeobox protein 4 (DUX4) and causes FSHD. In addition, misregulation of microRNAs (miRNAs) has been reported in muscular dy...

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