Unilateral retinocytoma associated with a variant in the RB1 gene
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1156
Abstract: Retinocytoma is a rare benign retinal tumor associated with variants in the RB1 gene. Ophthalmoscopic features can include a translucent retinal mass, calcification, retinal pigment epithelial alteration and chorioretinal atrophy. read more here.
Keywords: unilateral retinocytoma; rb1 gene; retinocytoma; retinocytoma associated ... See more keywords
Effect of a coronary-heart-disease-associated variant of ADAMTS7 on endothelial cell angiogenesis.
Sign Up to like & getrecommendations! Published in 2020 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2020.01.015
Abstract: BACKGROUND AND AIMS Recent studies have unveiled an association between ADAMTS7 gene variation and coronary artery disease (CAD) caused by atherosclerosis. We investigated if the ADAMTS7 Serine214-to-Proline substitution arising from a CAD-associated variant affected angiogenesis,… read more here.
Keywords: adamts7 ser214; angiogenesis; disease; effect ... See more keywords
The schizophrenia-associated variant in SLC39A8 alters protein glycosylation in the mouse brain
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Psychiatry"
DOI: 10.1038/s41380-022-01490-1
Abstract: A missense mutation (A391T) in SLC39A8 is strongly associated with schizophrenia in genomic studies, though the molecular connection to the brain is unknown. Human carriers of A391T have reduced serum manganese, altered plasma glycosylation, and… read more here.
Keywords: glycosylation; schizophrenia; schizophrenia associated; protein glycosylation ... See more keywords
Retained radial catheters associated with variant radial anatomy in neurointerventional procedures
Sign Up to like & getrecommendations! Published in 2022 at "Journal of NeuroInterventional Surgery"
DOI: 10.1136/jnis-2022-019004
Abstract: Background Transradial artery access (TRA) for neurointerventional procedures is gaining widespread acceptance. However, complications that were previously rare may arise as TRA procedures increase. Here we report a series of retained catheter cases with a… read more here.
Keywords: retained catheter; radial anatomy; anatomy; neurointerventional procedures ... See more keywords
Longevity-Associated Variant of BPIFB4 Confers Neuroprotection in the STHdh Cell Model of Huntington Disease
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232315313
Abstract: Huntington’s disease (HD) is caused by the production of mutant Huntingtin (mHTT), characterized by long polyglutamine repeats with toxic effects. There are currently no clinically validated therapeutic agents that slow or halt HD progression, resulting… read more here.
Keywords: bpifb4; sthdh cell; huntington disease; associated variant ... See more keywords