Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2021.5992
Abstract: Importance Junctional epidermolysis bullosa (JEB) is an incurable blistering skin disorder with high infant mortality often caused by nonsense variants in the genes that encode laminin 332. Objective To evaluate the safety and outcomes following… read more here.
Keywords: treatment patients; epidermolysis bullosa; nonsense variants; laminin 332 ... See more keywords
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of medical genetics"
DOI: 10.1136/jmg-2022-108960
Abstract: NF2-related schwannomatosis is an autosomal dominant tumour predisposition condition that causes multiple benign tumours of the nervous system, especially schwannomas. This results from germline pathogenic variants in the NF2 gene, which are most commonly de… read more here.
Keywords: rates germline; variants nf2; differential rates; nonsense variants ... See more keywords
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association
Sign Up to like & getrecommendations! Published in 2022 at "Haematologica"
DOI: 10.3324/haematol.2022.281279
Abstract: In hemophilia A, F8 nonsense variants, and particularly those affecting the large factor VIII (FVIII) B domain that is dispensable for coagulant activity, display lower association with replacement therapy-related anti-FVIII inhibitory antibodies as retrieved from… read more here.
Keywords: expression; nonsense variants; domain; translational readthrough ... See more keywords