DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1 (Q24299685)

Double homeobox protein 4C

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Double homeobox 4

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positive regulation of transcription by RNA polymerase II

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10

Oberdan Leo

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author name string

Manjusha Dixit

1

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Eugénie Ansseau

2

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Alexandra Tassin

3

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Sara Winokur

4

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Rongye Shi

5

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Hong Qian

6

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Sébastien Sauvage

7

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Christel Mattéotti

8

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Anne M van Acker

9

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Denise Figlewicz

11

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Marietta Barro

12

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Dalila Laoudj-Chenivesse

13

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Alexandra Belayew

14

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Frédérique Coppée

15

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Yi-Wen Chen

Proceedings of the National Academy of Sciences of the United States of America

16

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language of work or name

English

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publication date

13 November 2007

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published in

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volume

104

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issue

46

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page(s)

18157-62

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cites work

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Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

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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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Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy

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Hindlimb patterning and mandible development require the Ptx1 gene

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Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development

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Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

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Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration

26 May 2017

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27 September 2017

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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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Molecular responses of human muscle to eccentric exercise

27 September 2017

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Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation

27 September 2017

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

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

27 September 2017

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27 September 2017

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

27 September 2017

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Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

27 September 2017

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27 September 2017

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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

30 May 2018

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30 May 2018

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Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium

30 May 2018

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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

30 May 2018

1 reference

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The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

30 May 2018

1 reference

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

21 January 2018

1 reference

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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.

21 January 2018

1 reference

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Expression of Hoxa2 in rhombomere 4 is regulated by a conserved cross-regulatory mechanism dependent upon Hoxb1.

21 January 2018

1 reference

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Developmental genetic basis for the evolution of pelvic fin loss in the pufferfish Takifugu rubripes

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708659104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708659104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708659104

Expression profiling--best practices for data generation and interpretation in clinical trials

21 January 2018

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Switching the in vivo specificity of a minimal Hox-responsive element.

21 January 2018

1 reference

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Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0708659104

1 reference

1104551

ADS bibcode

2007PNAS..10418157D

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1104551

1 reference

1 reference

1 reference