Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2016.139
Abstract: The ubiquitin-proteasome pathway is involved in the pathogenesis of several neurogenetic diseases. We describe a Mauritanian patient harboring a homozygous deletion restricted to two contiguous genes HERC2 and OCA2 and presenting with severe developmental abnormalities.… read more here.
Keywords: complete loss; ubiquitin ligase; herc2; function ... See more keywords
Genome deletions to overcome the directed loss of gene function in Leishmania
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular and Infection Microbiology"
DOI: 10.3389/fcimb.2022.988688
Abstract: With the global reach of the Neglected Tropical Disease leishmaniasis increasing, coupled with a tiny armory of therapeutics which all have problems with resistance, cost, toxicity and/or administration, the validation of new drug targets in… read more here.
Keywords: complete loss; loss; knockout; sphingolipid biosynthesis ... See more keywords
The Complete Loss of p53 Expression Uniquely Predicts Worse Prognosis in Colorectal Cancer
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DOI: 10.3390/ijms23063252
Abstract: p53 immunohistochemistry is considered an accurate surrogate marker reflecting the underlying TP53 mutation status and has utility in tumor diagnostics. In the present study, 269 primary CRCs were immunohistochemically evaluated for p53 expression to assess… read more here.
Keywords: p53 expression; complete loss; p53; wild type ... See more keywords