(Q35221908)

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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

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Europe PubMed Central

PubMed publication ID

7 August 2017

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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay (English)

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Europe PubMed Central

PubMed publication ID

7 August 2017

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Valerie Arboleda

1

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4 June 2020

Florian Barthélémy

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4 June 2020

Louanne Hudgins

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Louanne Hudgins

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4 June 2020

Stanley F Nelson

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Stanley F Nelson

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4 June 2020

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Hane Lee

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4 June 2020

Naghmeh Dorrani

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4 June 2020

Neda Zadeh

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4 June 2020

Mary Willis

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4 June 2020

Colleen Forsyth Macmurdo

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4 June 2020

Melanie A Manning

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4 June 2020

Andrea Kwan

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4 June 2020

M Carrie Miceli

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4 June 2020

Fabiola Quintero-Rivera

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4 June 2020

Sibel Kantarci

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4 June 2020

Samuel P Strom

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4 June 2020

Joshua L Deignan

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4 June 2020

UCLA Clinical Genomics Center

16

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4 June 2020

Wayne W Grody

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4 June 2020

Eric Vilain

18

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4 June 2020

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26 February 2015

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7 August 2017

American Journal of Human Genetics

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4 June 2020

96

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4 June 2020

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4 June 2020

498-506

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25728775%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Polycomb- and REST-associated histone deacetylases are independent pathways toward a mature neuronal phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

A role for histone deacetylases in the cellular and behavioral mechanisms underlying learning and memory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Histone deacetylases and their inhibitors in cancer, neurological diseases and immune disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Regulation of germinal center responses and B-cell memory by the chromatin modifier MOZ

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Chromatin dynamics from S-phase to mitosis: contributions of histone modifications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

The involvement of DNA methylation and histone modification on the epigenetic regulation of embryonic stem cells and induced pluripotent stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Neural crest development and craniofacial morphogenesis is coordinated by nitric oxide and histone acetylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

The histone methyltransferase Dot1/DOT1L as a critical regulator of the cell cycle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

MOZ-mediated repression of p16(INK) (4) (a) is critical for the self-renewal of neural and hematopoietic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

A systematic approach to assessing the clinical significance of genetic variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

ACMG clinical laboratory standards for next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Preclinical studies in the mdx mouse model of duchenne muscular dystrophy with the histone deacetylase inhibitor givinostat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

STAR: ultrafast universal RNA-seq aligner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Tandem PHD fingers of MORF/MOZ acetyltransferases display selectivity for acetylated histone H3 and are required for the association with chromatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Fine-tuning p53 activity through C-terminal modification significantly contributes to HSC homeostasis and mouse radiosensitivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

MYST-family histone acetyltransferases: beyond chromatin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

United States head circumference growth reference charts: birth to 21 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Blinded by the Light: The Growing Complexity of p53

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Brpf1, a subunit of the MOZ histone acetyl transferase complex, maintains expression of anterior and posterior Hox genes for proper patterning of craniofacial and caudal skeletons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Monocytic leukemia zinc finger (MOZ) interacts with p53 to induce p21 expression and cell-cycle arrest

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Beyond transcription factors: the role of chromatin modifying enzymes in regulating transcription required for memory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Generation of human induced pluripotent stem cells from dermal fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Monocytic leukemia zinc finger protein is essential for the development of long-term reconstituting hematopoietic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Activation of AML1-mediated transcription by MOZ and inhibition by the MOZ-CBP fusion protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

The monocytic leukemia zinc finger protein MOZ is a histone acetyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

MOZ is fused to p300 in an acute monocytic leukemia with t(8;22).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

27 July 2018

Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

MOZ increases p53 acetylation and premature senescence through its complex formation with PML

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

Moz and retinoic acid coordinately regulate H3K9 acetylation, Hox gene expression, and segment identity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

The histone acetyl transferase activity of monocytic leukemia zinc finger is critical for the proliferation of hematopoietic precursors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

Nitric oxide deficiency determines global chromatin changes in Duchenne muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375619

26 September 2018

The acid extraction of histones from calf thymus deoxyribonucleoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/25728775

12 December 2020

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10.1016/J.AJHG.2015.01.017

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25728775%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

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Europe PubMed Central

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4 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25728775%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

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