Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome (Q24633725)

14

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Stephen Robertson

Stephen P Robertson

13

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Philippe M. Campeau

Philippe M Campeau

1

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Jeremy Schwartzentruber

Jeremy A Schwartzentruber

4

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Jacek Majewski

20

Jacek Majewski

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Omar A Abdul-Rahman

5

Omar A Abdul-Rahman

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Richard A Gibbs

18

Richard A Gibbs

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author name string

Jaeseung C Kim

2

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James T Lu

3

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Silke Schlaubitz

6

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David M Murdock

7

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Ming-Ming Jiang

8

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Edward J Lammer

9

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Gregory M Enns

10

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William J Rhead

11

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Jon Rowland

12

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Matthew N Bainbridge

15

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Xiang-Jiao Yang

16

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Marie-Claude Gingras

17

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David S Rosenblatt

19

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Brendan H Lee

American Journal of Human Genetics

21

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language of work or name

English

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publication date

10 February 2012

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published in

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volume

90

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page(s)

282-9

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issue

2

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cites work

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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Fast and accurate short read alignment with Burrows-Wheeler transform

7 April 2017

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Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes

7 April 2017

1 reference

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

7 April 2017

1 reference

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A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

7 April 2017

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

7 April 2017

1 reference

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Identification of a transcriptionally active peroxisome proliferator-activated receptor alpha -interacting cofactor complex in rat liver and characterization of PRIC285 as a coactivator

7 April 2017

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

7 April 2017

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The Sequence Alignment/Map format and SAMtools

7 April 2017

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

7 April 2017

1 reference

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The Universal Protein Resource (UniProt) in 2010

7 April 2017

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

7 April 2017

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

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SIFT: Predicting amino acid changes that affect protein function

7 April 2017

1 reference

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The functional spectrum of low-frequency coding variation

7 April 2017

1 reference

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

27 September 2017

1 reference

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Genitopatellar syndrome, sensorineural hearing loss, and cleft palate

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

MYST family histone acetyltransferases take center stage in stem cells and development.

27 September 2017

1 reference

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Psammoma body: a product of dystrophic calcification or of a biologically active process that aims at limiting the growth and spread of tumor?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Genitopatellar syndrome: delineating the anomalies of female genitalia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Genitopatellar syndrome: expanding the phenotype.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Genitopatellar syndrome: a recognizable phenotype.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276659

Genitopatellar syndrome: a further case

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22265014

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.11.023

0 references

Fatcat ID

release_kjpyxkab6jf4dbdk4culc6ilxe

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kjpyxkab6jf4dbdk4culc6ilxe