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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

OTU domain containing 7A

Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. OTUD7A belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] (from NCBI)
Top mentioned proteins: CHRNA7, melastatin, KLF13, OUT, TOP
Papers on OTUD7A
Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.
Melegh et al., Pécs, Hungary. In Mol Cytogenet, 2014
We assume dosage dependence in the case of CHRNA7 and OTUD7A, which might be involved in growth regulation.
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
Smith et al., Minneapolis, United States. In Genet Epidemiol, 2013
Loci at or near SUSD1 and OTUD7A showed borderline yet novel associations (P < 5.0 × 10(-6) ) and constitute new candidate genes.
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 congenital retinal dysfunction in siblings.
Klopocki et al., Berlin, Germany. In Eur J Med Genet, 2011
The siblings carry a homozygous microdeletion at 15q13.3 of ∼1.5 Mb including the genes ARHGAP11B, MTMR15, MTMR10, TRPM1, KLF13, OTUD7A, and CHRNA7.
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Stankiewicz et al., Houston, United States. In Nat Genet, 2009
Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).
Grahn et al., Tampa, United States. In Genetics, 2008
We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR.
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