Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.52083
Abstract: Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to… read more here.
Keywords: neurofilament heavy; chain gene; heavy chain; mutations tail ... See more keywords
Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000020813
Abstract: Abstract Introduction: As one of the most common causes of male infertility, asthenozoospermia mainly shows low sperm motility, accounting for 81.84% of male infertility patients. Recently, there has been a notable increase for relationship between… read more here.
Keywords: chain gene; heavy chain; dynein heavy; gene ... See more keywords
Landscape of immunoglobulin heavy chain gene repertoire and its clinical relevance to LPL/WM
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2022007279
Abstract: Key Points We unveil the distinct patterns of IGHV repertoire and discuss the correlation between IGHV and other genetic abnormalities in LPL/WM. IGHV4 usage was a predictive marker of shorter progression-free survival in patients with… read more here.
Keywords: heavy chain; chain gene; gene repertoire; immunoglobulin heavy ... See more keywords