(Q29147503)

4 April 2017

title

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

1 reference

Enhancer of zeste 2 polycomb repressive complex 2 subunit

4 April 2017

main subject

1 reference

histone methyltransferase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Damian Yap

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Margaret McKinnon

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Colin J. Ross

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

William B. Dobyns

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

William T. Gibson

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Chieko Chijiwa

4

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Natália Tkachenko

6

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Valentina Milano

7

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Mélanie Fradin

8

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jieqing Xu

11

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ana S A Cohen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

M E Suzanne Lewis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Maria A Ramos-Arroyo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Katelin N Townsend

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

M I Van Allen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

David D Weaver

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

publication date

1 March 2016

1 reference

4 April 2017

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

37

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

3

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

301-307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

Phosphorylation of EZH2 activates STAT3 signaling via STAT3 methylation and promotes tumorigenicity of glioblastoma stem-like cells

9 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27)

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Ezh2, the histone methyltransferase of PRC2, regulates the balance between self-renewal and differentiation in the cerebral cortex

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Akt-mediated phosphorylation of EZH2 suppresses methylation of lysine 27 in histone H3

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

EZH2 inhibition as a therapeutic strategy for lymphoma with EZH2-activating mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Defining the role of common variation in the genomic and biological architecture of adult human height

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

A687V EZH2 is a driver of histone H3 lysine 27 (H3K27) hypertrimethylation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Ezh2 is required for neural crest-derived cartilage and bone formation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

EZH2: biology, disease, and structure-based drug discovery

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

EZH2 in normal and malignant hematopoiesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Targeted disruption of the EZH2-EED complex inhibits EZH2-dependent cancer

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

De novo mutations in histone-modifying genes in congenital heart disease.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Durable tumor regression in genetically altered malignant rhabdoid tumors by inhibition of methyltransferase EZH2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

The NSD1 and EZH2 overgrowth genes, similarities and differences

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Ezh2 orchestrates topographic migration and connectivity of mouse precerebellar neurons

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

EZH2 oncogenic activity in castration-resistant prostate cancer cells is Polycomb-independent

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Selective inhibition of Ezh2 by a small molecule inhibitor blocks tumor cells proliferation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Common variants at 12q15 and 12q24 are associated with infant head circumference

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Genetic inactivation of the polycomb repressive complex 2 in T cell acute lymphoblastic leukemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Mutations in EZH2 cause Weaver syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Context-specific regulation of NF-κB target gene expression by EZH2 in breast cancers.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Coordinated activities of wild-type plus mutant EZH2 drive tumor-associated hypertrimethylation of lysine 27 on histone H3 (H3K27) in human B-cell lymphomas

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Histone H3K27 methyltransferase Ezh2 represses Wnt genes to facilitate adipogenesis.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation 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=4832389

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele.

3 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

EZH2 mutational status predicts poor survival in myelofibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

Dominant alleles identify SET domain residues required for histone methyltransferase of Polycomb repressive complex 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

A histone mutant reproduces the phenotype caused by loss of histone-modifying factor Polycomb.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

Long residence time inhibition of EZH2 in activated polycomb repressive complex 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

EZH2 mutations and their association with PICALM-MLLT10 positive acute leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22946

Pachygyria in Weaver syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4832389

Weaver syndrome with neuroblastoma and cardiovascular anomalies

26 November 2018

1 reference

12 December 2020

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

1 reference

12 December 2020

Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies

1 reference

12 December 2020

A687V EZH2 is a gain-of-function mutation found in lymphoma patients

1 reference

12 December 2020

Weaver syndrome and defective cortical development: a rare association

1 reference

12 December 2020

Identifiers

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26694085%20AND%20SRC:MED&resulttype=core&format=json