PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase (Q24309265)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19843542%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase (English)

1 reference

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10 February 2020

1 reference

GOA release 2020-03-11

histone demethylase activity

1 reference

GOA release 2020-03-11

author

Christopher J. Schofield

8

1 reference

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10 February 2020

Christoph Loenarz

1

1 reference

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10 February 2020

Mathew L Coleman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19843542%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Nathan R Rose

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19843542%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Christopher D. Cooper

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19843542%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Peter J. Ratcliffe

7

1 reference

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10 February 2020

6

Robert J Klose

1 reference

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10 February 2020

author name string

Wei Ge

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19843542%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

language of work or name

English

0 references

publication date

19 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19843542%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

published in

Human Molecular Genetics

1 reference

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10 February 2020

volume

19

1 reference

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10 February 2020

issue

2

1 reference

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10 February 2020

page(s)

217-222

1 reference

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Jmjd6 catalyses lysyl-hydroxylation of U2AF65, a protein associated with RNA splicing

10 February 2020

cites work

1 reference

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Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects

19 March 2017

1 reference

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A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor

19 March 2017

1 reference

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The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Posttranslational hydroxylation of ankyrin repeats in IkappaB proteins by the hypoxia-inducible factor (HIF) asparaginyl hydroxylase, factor inhibiting HIF (FIH)

19 March 2017

1 reference

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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

19 March 2017

1 reference

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Hyperoxia and hypoxia in pregnancy: simple experimental manipulation alters the incidence of cleft lip and palate in CL/Fr mice

19 March 2017

1 reference

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Asparagine beta-hydroxylation stabilizes the ankyrin repeat domain fold

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Inhibitor scaffolds for 2-oxoglutarate-dependent histone lysine demethylases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Crystal structures of histone demethylase JMJD2A reveal basis for substrate specificity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Protein structure prediction on the Web: a case study using the Phyre server

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Histone demethylation by a family of JmjC domain-containing proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Hypoxia-inducible factor (HIF) asparagine hydroxylase is identical to factor inhibiting HIF (FIH) and is related to the cupin structural family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Autism-associated familial microdeletion of Xp11.22

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Expanding chemical biology of 2-oxoglutarate oxygenases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

The putative oncogene GASC1 demethylates tri- and dimethylated lysine 9 on histone H3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

Transverse limb deficiency, facial clefting and hypoxic renal damage: an association with treatment of maternal hypertension?

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

19 March 2017

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Oxygen sensing by HIF hydroxylases

21 January 2018

1 reference

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Proteomics-based identification of novel factor inhibiting hypoxia-inducible factor (FIH) substrates indicates widespread asparaginyl hydroxylation of ankyrin repeat domain-containing proteins.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4673897

The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

27 September 2017

1 reference

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Taking it to the max: the genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology

27 September 2017

1 reference

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Acardiac fetus: evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting.

27 September 2017

1 reference

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X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDP480

Incorporation of oxygen into the succinate co-product of iron(II) and 2-oxoglutarate dependent oxygenases from bacteria, plants and humans

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDP480

Purification and characterization of an alpha-ketoisocaproate oxygenase of rat liver

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19843542

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDP480

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19843542%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19843542%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

19843542

2 references