Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. (Q36891155)

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4 April 2020

title

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy (English)

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Baziel van Engelen

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Silvère M van der Maarel

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Vered Raz

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Patrick J van der Vliet

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Patrick J van der Vliet

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Judit Balog

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Stephen J Tapscott

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Richard J L F Lemmers

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Richard J L F Lemmers

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Rabi Tawil

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Kirsten R Straasheijm

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Elly L van der Kooi

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author name string

Marlinde L van den Boogaard

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Mariëlle Wohlgemuth

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Mari Auranen

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Satomi Mitsuhashi

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Rob F P van den Akker

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Marjolein Kriek

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Marlies E Y Laurense-Bik

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Monique M van Ostaijen-Ten Dam

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Kerstin B M Hansson

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Sari Kiuru-Enari

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Bjarne Udd

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Maarten J D van Tol

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language of work or name

English

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publication date

1 May 2016

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American Journal of Human Genetics

4 April 2020

published in

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volume

98

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issue

5

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page(s)

1020-1029

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Reading between the Lines: "ADD"-ing Histone and DNA Methylation Marks toward a New Epigenetic "Sum".

4 April 2020

cites work

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Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

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DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level

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Structural insight into autoinhibition and histone H3-induced activation of DNMT3A

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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

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

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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

29 September 2017

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29 September 2017

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A focal domain of extreme demethylation within D4Z4 in FSHD2.

29 September 2017

1 reference

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Chromatin methylation activity of Dnmt3a and Dnmt3a/3L is guided by interaction of the ADD domain with the histone H3 tail

27 June 2018

1 reference

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No evidence for cumulative effects in a Dnmt3b hypomorph across multiple generations.

27 June 2018

1 reference

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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

4 September 2018

1 reference

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Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

4 September 2018

1 reference

12 December 2020

An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16

1 reference

12 December 2020

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

10.1016/J.AJHG.2016.03.013

Identifiers

DOI

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4 April 2020

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4 April 2020

PubMed publication ID

27153398

1 reference