Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome (Q29147388)

Embryonic ectoderm development

GOA release 2020-03-11

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histone methyltransferase activity (H3-K27 specific)

GOA release 2020-03-11

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GOA release 2020-03-11

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Hidenobu Soejima

18

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Yasunari Sakai

object named as

Yasunari Sakai

3

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Hirotomo Saitsu

object named as

Hirotomo Saitsu

13

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Gen Nishimura

12

object named as

Gen Nishimura

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4 April 2017

Eri Imagawa

1

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4 April 2017

Ken Higashimoto

2

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4 April 2017

Chikahiko Numakura

4

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4 April 2017

Nobuhiko Okamoto

5

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4 April 2017

Satoko Matsunaga

6

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4 April 2017

Akihide Ryo

7

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4 April 2017

Yoshinori Sato

8

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4 April 2017

Masafumi Sanefuji

9

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4 April 2017

Kenji Ihara

10

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4 April 2017

Yui Takada

11

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4 April 2017

Takeshi Mizuguchi

14

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4 April 2017

Satoko Miyatake

15

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4 April 2017

Mitsuko Nakashima

16

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4 April 2017

Noriko Miyake

17

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4 April 2017

Naomichi Matsumoto

PRC2 during vertebrate organogenesis: a complex in transition

19

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4 April 2017

22 February 2017

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4 April 2017

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4 April 2017

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https://api.crossref.org/works/10.1002%2FHUMU.23200

Role of histone H3 lysine 27 methylation in Polycomb-group silencing

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Molecular architecture of human polycomb repressive complex 2

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

A novel mutation in EED associated with overgrowth

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

The SET-domain protein superfamily: protein lysine methyltransferases

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

The Polycomb complex PRC2 and its mark in life

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Polycomb silencing mechanisms and the management of genomic programmes

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Polycomb group proteins: navigators of lineage pathways led astray in cancer

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

The central role of EED in the orchestration of polycomb group complexes.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.23200

EED-associated overgrowth in a second male patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

PRC2 mediated H3K27 methylations in cellular identity and cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Novel EED mutation in patient with Weaver syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Polycomb-dependent H3K27me1 and H3K27me2 regulate active transcription and enhancer fidelity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Mutations in EZH2 cause Weaver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Human genetic variation database, a reference database of genetic variations in the Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Polycomb group protein-mediated repression of transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Human TNRC6A is an Argonaute-navigator protein for microRNA-mediated gene silencing in the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Epigenetic balance of gene expression by Polycomb and COMPASS families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Weaver syndrome: autosomal dominant inheritance of the disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Elements of the polycomb repressor SU(Z)12 needed for histone H3-K27 methylation, the interface with E(Z), and in vivo function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Jarid2 Methylation via the PRC2 Complex Regulates H3K27me3 Deposition during Cell Differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Polycomb group proteins: multi-faceted regulators of somatic stem cells and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Arabidopsis HY5 protein functions as a DNA-binding tag for purification and functional immobilization of proteins on agarose/DNA microplate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Childhood overgrowth in patients with common NF1 microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Practical cell-free protein synthesis system using purified wheat embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Recruiting polycomb to chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

Polycomb group suppressor of zeste 12 links heterochromatin protein 1alpha and enhancer of zeste 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23200