The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein (Q24313369)

1

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Aline Marcowycz

2

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Eugénie Ansseau

3

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Cecilia B Conde

4

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Sébastien Sauvage

5

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Christel Mattéotti

6

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Cristina Arias

7

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E Daniel Corona

8

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Nicolás G Nuñez

9

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Ruddy Wattiez

11

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Denise Figlewicz

12

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Dalila Laoudj-Chenivesse

13

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Alexandra Belayew

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Frédérique Coppée

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Alberto L Rosa

Facioscapulohumeral muscular dystrophy

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language of work or name

English

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publication date

August 2007

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published in

Neuromuscular Disorders

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volume

17

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issue

8

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page(s)

611-23

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cites work

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Colocalization of emerin and lamins in interphase nuclei and changes during mitosis

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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

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Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle

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

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Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila.

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Facioscapulohumeral muscular dystrophy

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Myogenic progenitor cells and skeletal myogenesis in vertebrates

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Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation

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Inappropriate Gene Activation in FSHD

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Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements

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Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

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Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

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Database of bronchoalveolar lavage fluid proteins

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Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

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

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Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy

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Integral membrane proteins of the nuclear envelope are dispersed throughout the endoplasmic reticulum during mitosis

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The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres

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

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FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

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High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q.

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Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy

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The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region

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Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35

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Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements

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Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q

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

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

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Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation

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High affinity YY1 binding motifs: identification of two core types (ACAT and CCAT) and distribution of potential binding sites within the human beta globin cluster

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The orthodenticle gene encodes a novel homeo domain protein involved in the development of the Drosophila nervous system and ocellar visual structures.

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FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

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A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

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Genome-wide hypomethylation in human glioblastomas associated with specific copy number alteration, methylenetetrahydrofolate reductase allele status, and increased proliferation.

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Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35.

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

17588759

1 reference

Consolidated OpenCitations Corpus – April 2017