Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2164204
Abstract: Abstract Objectives This paper presents the first report of amyotrophic lateral sclerosis (ALS) kindred due to the KIF5A p.Arg1007Lys, a splice-altering variant. Methods An index case was a 54-year-old male who developed progressive gait difficulty… read more here.
Keywords: index case; expanding spectrum; report; case ... See more keywords
KIF5A upregulation in hepatocellular carcinoma: A novel prognostic biomarker associated with unique tumor microenvironment status
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.1071722
Abstract: Liver hepatocellular carcinoma (LIHC) is one of the most common liver malignancies with high mortality and morbidity. Thus, it is crucial to identify potential biomarker that is capable of accurately predicting the prognosis and therapeutic… read more here.
Keywords: hepatocellular carcinoma; biomarker; unique tumor; tumor microenvironment ... See more keywords