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OTUD7A gene

Known as: OTUD7, C16ORF15, OTU DOMAIN-CONTAINING PROTEIN 7A 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
Heterozygous microdeletions of chromosome 15q13.3 (MIM: 612001) show incomplete penetrance and are associated with a highly… 
2019
2019
Crosstalk between Lys63- and Lys11-polyubiquitin signaling at DNA damage sites is driven by Cezanne
In this study, Wu et al. set out to understand the regulation of linkage-specific ubiquitin signaling at sites of DNA damage… 
Review
2019
Review
2019
Mixed ubiquitin chains regulate DNA repair
This Outlook discusses Wu et al.’s finding showing Cezanne and Cezanne2, two paralogous deubiquitinating enzymes that are… 
Highly Cited
2018
Highly Cited
2018
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
Highly Cited
2018
Highly Cited
2018
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
2016
2016
15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes
The 15q13.3 microdeletion syndrome is caused by a 1.5-MB hemizygous microdeletion located on 15q13.3 affecting seven genes: FAN1… 
2014
2014
Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma
High malignancy and early metastasis are the hallmarks of hepatocellular carcinoma (HCC). Here, we report that Cezanne2… 
Highly Cited
2011
Highly Cited
2011
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and…
Highly Cited
2009
Highly Cited
2009
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with… 
Highly Cited
2008
Highly Cited
2008
Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns (LP) in the Appaloosa Horse (Equus caballus)
The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is… 
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