De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay (Q35221908)

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

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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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7 August 2017

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Valerie Arboleda

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Florian Barthélémy

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Louanne Hudgins

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Louanne Hudgins

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Stanley F Nelson

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Hane Lee

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Naghmeh Dorrani

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Neda Zadeh

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Mary Willis

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Colleen Forsyth Macmurdo

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Melanie A Manning

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Andrea Kwan

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M Carrie Miceli

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Fabiola Quintero-Rivera

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Sibel Kantarci

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Samuel P Strom

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Joshua L Deignan

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UCLA Clinical Genomics Center

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Wayne W Grody

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Eric Vilain

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26 February 2015

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American Journal of Human Genetics

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498-506

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4 June 2020

Clinical exome sequencing for genetic identification of rare Mendelian disorders

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27 July 2018

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

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27 July 2018

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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27 July 2018

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27 July 2018

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27 July 2018

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

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27 July 2018

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

MYST-family histone acetyltransferases: beyond chromatin.

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27 July 2018

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

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27 July 2018

Blinded by the Light: The Growing Complexity of p53

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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.

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27 July 2018

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

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27 July 2018

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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27 July 2018

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

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27 July 2018

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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.

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27 July 2018

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

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27 July 2018

The monocytic leukemia zinc finger protein MOZ is a histone acetyltransferase

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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26 September 2018

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

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26 September 2018

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

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26 September 2018

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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

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26 September 2018

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

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26 September 2018

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

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26 September 2018

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

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26 September 2018

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