The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration (Q37568977)

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scientific article published on 23 January 2014

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English	The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration	scientific article published on 23 January 2014

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scholarly article

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Europe PubMed Central

PMC publication ID

3918143

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21 August 2017

title

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration (English)

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Europe PubMed Central

PMC publication ID

3918143

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21 August 2017

main subject

microcephaly

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author

Daniel C Swan

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5

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Europe PubMed Central

PMC publication ID

3918143

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21 August 2017

Hanno Jörn Bolz

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6

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Hanno Jörn Bolz

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Hanan H. Afifi

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Hanan H Afifi

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3

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Ghada M Abdel-Salam

object named as

Ghada Abdel-Salam

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1

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author name string

Michaela Thoenes

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2

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Europe PubMed Central

PMC publication ID

3918143

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21 August 2017

Friederike Körber

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4

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Europe PubMed Central

PMC publication ID

3918143

retrieved

21 August 2017

language of work or name

English

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publication date

23 January 2014

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Europe PubMed Central

PMC publication ID

3918143

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21 August 2017

published in

Orphanet Journal of Rare Diseases

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Europe PubMed Central

PMC publication ID

3918143

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21 August 2017

volume

9

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Europe PubMed Central

PMC publication ID

3918143

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21 August 2017

issue

1

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page(s)

12

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Europe PubMed Central

PMC publication ID

3918143

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21 August 2017

cites work

Long runs of homozygosity are enriched for deleterious variation

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23 August 2017

Conditional Wwox deletion in mouse mammary gland by means of two Cre recombinase approaches.

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reference URL

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23 August 2017

A systematic survey of loss-of-function variants in human protein-coding genes

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23 August 2017

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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23 August 2017

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

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23 August 2017

Signaling from membrane receptors to tumor suppressor WW domain-containing oxidoreductase

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23 August 2017

Generation and characterization of mice carrying a conditional allele of the Wwox tumor suppressor gene

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23 August 2017

WWOX: its genomics, partners, and functions

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PubMed Central

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23 August 2017

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23 August 2017

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

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23 August 2017

Targeted ablation of the WW domain-containing oxidoreductase tumor suppressor leads to impaired steroidogenesis

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PubMed Central

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23 August 2017

The WWOX tumor suppressor is essential for postnatal survival and normal bone metabolism

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PubMed Central

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23 August 2017

Targeted deletion of Wwox reveals a tumor suppressor function

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PubMed Central

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23 August 2017

An unexpected new role of mutant Ras: perturbation of human embryonic development

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23 August 2017

Expression of WW domain-containing oxidoreductase WOX1 in the developing murine nervous system

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23 August 2017

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

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23 August 2017

Brn3b/Brn3c double knockout mice reveal an unsuspected role for Brn3c in retinal ganglion cell axon outgrowth

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23 August 2017

Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma

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23 August 2017

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

1 reference

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PubMed Central

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23 August 2017

A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918143

retrieved

25 June 2018

Common chromosomal fragile site FRA16D tumor suppressor WWOX gene expression and metabolic reprograming in cells.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918143

retrieved

1 September 2018

Light-induced retinal damage involves tyrosine 33 phosphorylation, mitochondrial and nuclear translocation of WW domain-containing oxidoreductase in vivo

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918143

retrieved

1 September 2018

Identifiers

DOI

10.1186/1750-1172-9-12

1 reference

stated in

Europe PubMed Central

PMC publication ID

3918143

retrieved

21 August 2017

Dimensions Publication ID

1041571493

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PMC publication ID

3918143

1 reference

stated in

Europe PubMed Central

PMC publication ID

3918143

retrieved

21 August 2017

PubMed publication ID

24456803

1 reference

stated in

Europe PubMed Central

PMC publication ID

3918143

retrieved

21 August 2017

ResearchGate publication ID

259881397

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