Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0300-5
Abstract: PurposeTo characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.MethodsWe performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing loss (HL). MEPE was analyzed using… read more here.
Keywords: variants affecting; family; bone; otosclerosis ... See more keywords
Genetic variants affecting equivalent protein family positions reflect human diversity
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-12971-7
Abstract: Members of diverse protein families often perform overlapping or redundant functions meaning that different variations within them could reflect differences between individual organisms. We investigated likely functional positions within aligned protein families that contained a… read more here.
Keywords: equivalent protein; variants affecting; genetic variants; protein family ... See more keywords
Pemphigoid variants affecting the skin
Sign Up to like & getrecommendations! Published in 2019 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.13984
Abstract: Pemphigoid diseases are autoimmune subepidermal blistering diseases affecting the skin and mucous membranes, which are caused by autoantibodies targeting structural hemidesmosomal proteins or hemidesmosome‐associated proteins. Variants of pemphigoid can be differentiated based on targeted antigens… read more here.
Keywords: pemphigoid variants; variants affecting; dermatology; affecting skin ... See more keywords
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
Sign Up to like & getrecommendations! Published in 2022 at "Blood"
DOI: 10.1182/blood.2021014708
Abstract: Antithrombin (AT), encoded by the gene SERPINC1, is a serine protease inhibitor whose deficiency causes a severe form of dominantly inherited thrombophilia. de la Morena-Barrio et al describe 2 novel variants of AT with altered… read more here.
Keywords: severe thrombophilia; affecting glycosylation; two serpinc1; glycosylation ... See more keywords