Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation (Q29144895)

histone acetyltransferase activity (H3-K23 specific)

GOA release 2020-03-11

1 reference

Bromodomain and PHD finger containing, 1

GOA release 2020-03-11

1 reference

syndromic intellectual disability

GOA release 2020-03-11

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

1 reference

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

author

Rebecca Okashah Littlejohn

3

Rebecca Okashah Littlejohn

0 references

Margaret McKinnon

Margaret McKinnon

31

0 references

Anna Lehman

Anna Lehman

5

0 references

Philippe M. Campeau

Philippe M. Campeau

35

0 references

author name string

Kezhi Yan

1

1 reference

4 April 2017

Justine Rousseau

2

1 reference

4 April 2017

Rebecca Okashah Littlejohn

3

1 reference

4 April 2017

Courtney Kiss

4

1 reference

4 April 2017

Jill A. Rosenfeld

6

1 reference

4 April 2017

Constance T. R. Stumpel

7

1 reference

4 April 2017

Alexander P. A. Stegmann

8

1 reference

4 April 2017

Laurie Robak

9

1 reference

4 April 2017

Fernando Scaglia

10

1 reference

4 April 2017

Thi Tuyet Mai Nguyen

11

1 reference

4 April 2017

He Fu

12

1 reference

4 April 2017

Norbert F. Ajeawung

13

1 reference

4 April 2017

Maria Vittoria Camurri

14

1 reference

4 April 2017

Lin Li

15

1 reference

4 April 2017

Alice Gardham

16

1 reference

4 April 2017

Bianca Panis

17

1 reference

4 April 2017

Mohammed Almannai

18

1 reference

4 April 2017

Maria J. Guillen Sacoto

19

1 reference

4 April 2017

Berivan Baskin

20

1 reference

4 April 2017

Claudia Ruivenkamp

21

1 reference

4 April 2017

Fan Xia

22

1 reference

4 April 2017

Weimin Bi

23

1 reference

4 April 2017

DDD Study

24

1 reference

4 April 2017

CAUSES Study

25

1 reference

4 April 2017

Megan T. Cho

26

1 reference

4 April 2017

Thomas P. Potjer

27

1 reference

4 April 2017

Gijs W. E. Santen

28

1 reference

4 April 2017

Michael J. Parker

29

1 reference

4 April 2017

Natalie Canham

30

1 reference

4 April 2017

Lorraine Potocki

32

1 reference

4 April 2017

Jennifer J. MacKenzie

33

1 reference

4 April 2017

Elizabeth R. Roeder

34

1 reference

4 April 2017

Xiang-Jiao Yang

American Journal of Human Genetics

36

1 reference

4 April 2017

language of work or name

English

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publication date

5 January 2017

1 reference

4 April 2017

1 reference

4 April 2017

100

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4 April 2017

1

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4 April 2017

91–104

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4 April 2017

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

1 reference

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MOZ and MORF acetyltransferases: Molecular interaction, animal development and human disease

6 April 2017

1 reference

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Disruptive CHD8 mutations define a subtype of autism early in development

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Solution structure of an atypical PHD finger in BRPF2 and its interaction with DNA

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Recognition of unmodified histone H3 by the first PHD finger of bromodomain-PHD finger protein 2 provides insights into the regulation of histone acetyltransferases monocytic leukemic zinc-finger protein (MOZ) and MOZ-related factor (MORF)

6 April 2017

1 reference

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Structural and Histone Binding Ability Characterizations of Human PWWP Domains

6 April 2017

1 reference

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TRIM24 links a non-canonical histone signature to breast cancer

6 April 2017

1 reference

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Molecular basis of histone H3K36me3 recognition by the PWWP domain of Brpf1

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

The role of chromatin during transcription

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Chromatin modifications and their function

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

MOZ is essential for maintenance of hematopoietic stem cells

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Querkopf, a MYST family histone acetyltransferase, is required for normal cerebral cortex development

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger 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=5223032

How chromatin-binding modules interpret histone modifications: lessons from professional pocket pickers

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

BRPF1 is essential for development of fetal hematopoietic stem cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

The molecular hallmarks of epigenetic control

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

The Enok acetyltransferase complex interacts with Elg1 and negatively regulates PCNA unloading to promote the G1/S transition

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

The Chromatin Regulator BRPF3 Preferentially Activates the HBO1 Acetyltransferase but Is Dispensable for Mouse Development and Survival

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Bivalent interaction of the PZP domain of BRPF1 with the nucleosome impacts chromatin dynamics and acetylation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

BRPF3-HBO1 regulates replication origin activation and histone H3K14 acetylation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

H3K23me2 is a new heterochromatic mark in Caenorhabditis elegans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

The PZP Domain of AF10 Senses Unmodified H3K27 to Regulate DOT1L-Mediated Methylation of H3K79.

3 June 2018

1 reference

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GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

3 June 2018

1 reference

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KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung 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=5223032

The chromatin regulator Brpf1 regulates embryo development and cell 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=5223032

The lysine acetyltransferase activator Brpf1 governs dentate gyrus development through neural stem cells and progenitors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Histone acetyltransferase Enok regulates oocyte polarization by promoting expression of the actin nucleation factor spire

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Methylation of histone H3K23 blocks DNA damage in pericentric heterochromatin during meiosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Expression atlas of the multivalent epigenetic regulator Brpf1 and its requirement for survival of mouse embryos.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Molecular insights into the recognition of N-terminal histone modifications by the BRPF1 bromodomain.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Exchange of associated factors directs a switch in HBO1 acetyltransferase histone tail specificity.

3 June 2018

1 reference

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Uhrf1-dependent H3K23 ubiquitylation couples maintenance DNA methylation and replication

3 June 2018

1 reference

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Genetic syndromes caused by mutations in epigenetic genes

3 June 2018

1 reference

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Perceiving the epigenetic landscape through histone readers.

3 June 2018

1 reference

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De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar 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=5223032

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

3 June 2018

1 reference

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Polycomb purification by in vivo biotinylation tagging reveals cohesin and Trithorax group proteins as interaction partners

3 June 2018

1 reference

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Maintenance of neuronal laterality in Caenorhabditis elegans through MYST histone acetyltransferase complex components LSY-12, LSY-13 and LIN-49.

3 June 2018

1 reference

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Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

3 June 2018

1 reference

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Systematic identification of genes that regulate neuronal wiring in the Drosophila visual system

3 June 2018

1 reference

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The multidomain protein Brpf1 binds histones and is required for Hox gene expression and segmental identity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

3 June 2018

1 reference

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Site-Specific Identification of Lysine Acetylation Stoichiometries in Mammalian Cells.

3 June 2018

1 reference

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An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

26 November 2018

1 reference

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Isolation and immortalization of lymphocytes.

26 November 2018

1 reference

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moz regulates Hox expression and pharyngeal segmental identity in zebrafish

26 November 2018

1 reference

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enok encodes a Drosophila putative histone acetyltransferase required for mushroom body neuroblast proliferation

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223032