Diseases Associated with Mutation of Replication and Repair Proteins.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-13-0529-0_12
Abstract: Alterations in proteins that function in DNA replication and repair have been implicated in the development of human diseases including cancer, premature ageing, skeletal disorders, mental retardation, microcephaly, and neurodegeneration. Drosophila has orthologues of most… read more here.
Keywords: diseases associated; repair proteins; replication repair; associated mutation ... See more keywords
A Novel DCM-Associated Mutation in the N-Helix of Cardiac Troponin C Exhibits Impaired Contractile Kinetics and Reduced Ca2+-Sensitivity In Vitro
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DOI: 10.1016/j.bpj.2016.11.3011
Abstract: Point mutations in genes encoding the subunits of the cardiac troponin complex are known to result in various forms of cardiomyopathy. We report a clinical case of a 1-year old female who presented in the… read more here.
Keywords: dcm associated; novel dcm; cardiac troponin; troponin ... See more keywords
In vitro assessment of triple combination therapy for the most common disease-associated mutation in cystic fibrosis
Sign Up to like & getrecommendations! Published in 2022 at "European Respiratory Journal"
DOI: 10.1183/13993003.02380-2021
Abstract: Cystic fibrosis (CF), one of the most common lethal genetic diseases in those of European descent, is caused by loss-of-function mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which encodes an epithelial ion… read more here.
Keywords: cystic fibrosis; cftr; common disease; associated mutation ... See more keywords