Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 (Q29303884)

facioscapulohumeral muscular dystrophy

9 April 2017

main subject

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author

Marianne de Visser

22

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Yu Sun

Yu Sun

13

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Bert Bakker

Bert Bakker

26

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Daniel G. Miller

Daniel G Miller

29

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Sabrina Sacconi

Sabrina Sacconi

24

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Silvère M van der Maarel

Silvère M van der Maarel

30

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Rune Frants

21

Rune R Frants

1 reference

9 April 2017

17

George W Padberg

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9 April 2017

18

Baziel G M van Engelen

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9 April 2017

2

Rabi Tawil

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9 April 2017

15

Quinta Helmer

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9 April 2017

author name string

Richard J L F Lemmers

1

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9 April 2017

Lisa M Petek

3

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9 April 2017

Judit Balog

4

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9 April 2017

Gregory J Block

5

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9 April 2017

Gijs W E Santen

6

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9 April 2017

Amanda M Amell

7

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9 April 2017

Patrick J van der Vliet

8

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9 April 2017

Rowida Almomani

9

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9 April 2017

Kirsten R Straasheijm

10

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9 April 2017

Yvonne D Krom

11

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9 April 2017

Rinse Klooster

12

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Johan T den Dunnen

14

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Colleen M Donlin-Smith

16

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9 April 2017

Jessica C de Greef

19

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9 April 2017

Annemieke M Aartsma-Rus

20

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9 April 2017

Claude Desnuelle

23

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Galina N Filippova

25

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9 April 2017

Michael J Bamshad

27

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9 April 2017

Stephen J Tapscott

28

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9 April 2017

language of work or name

English

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publication date

11 November 2012

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9 April 2017

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9 April 2017

volume

44

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9 April 2017

page(s)

1370-1374

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9 April 2017

issue

12

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A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy

9 April 2017

cites work

1 reference

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

A unifying genetic model for facioscapulohumeral muscular dystrophy

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Mutation of YCS4, a budding yeast condensin subunit, affects mitotic and nonmitotic chromosome behavior.

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

A new mathematical model for relative quantification in real-time RT-PCR

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

DPY-27:a chromosome condensation protein homolog that regulates C. elegans dosage compensation through association with the X chromosome

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

9 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG.2454

Exome sequencing as a tool for Mendelian disease gene discovery

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

9 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.

24 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

3 June 2018

Overview on AON design

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

The FSHD atrophic myotube phenotype is caused by DUX4 expression

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Clinical features of facioscapulohumeral muscular dystrophy 2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Testing the effects of FSHD candidate gene expression in vertebrate muscle development

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

A structural-maintenance-of-chromosomes hinge domain-containing protein is required for RNA-directed DNA methylation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Protocol for the fast chromatin immunoprecipitation (ChIP) method

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Mutations in the Drosophila condensin subunit dCAP-G: defining the role of condensin for chromosome condensation in mitosis and gene expression in interphase.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

Metastable epialleles in mammals

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3671095

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

3 June 2018

1 reference

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

DPY-26, a link between dosage compensation and meiotic chromosome segregation in the nematode

21 January 2018

1 reference

Neomorphic agouti mutations in obese yellow mice

21 January 2018

1 reference

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

21 January 2018

1 reference

Facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

12 December 2020

Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families

1 reference

12 December 2020

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis

1 reference

12 December 2020

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2454

2 references

9 April 2017

Dimensions Publication ID

1778318

1045533804

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1778318

1 reference

1 reference

1 reference