Anterior communicating artery aneurysm with concomitant A2 segment triplication and anterior communicating artery fenestration, A rare case series on microsurgical treatment
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000002646
Abstract: Introduction and importance: There are few cases of multiple simultaneous anterior communicating artery (AComA) aneurysms with A2 triplication and AComA duplication. Cases presentation: (1) A fenestrated AComA with a saccular aneurysm (neck diameter 9 mm;… read more here.
Keywords: communicating artery; aneurysm; anterior communicating; acoma ... See more keywords
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001941
Abstract: Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we describe a… read more here.
Keywords: exome sequencing; diagnosis; triplication; globin cluster ... See more keywords
Modeling Lewy body disease with SNCA triplication iPSC-derived cortical organoids and identifying therapeutic drugs
Sign Up to like & getrecommendations! Published in 2024 at "Science Advances"
DOI: 10.1126/sciadv.adk3700
Abstract: Aggregated α-synuclein (α-SYN) proteins, encoded by the SNCA gene, are hallmarks of Lewy body disease (LBD), affecting multiple brain regions. However, the specific mechanisms underlying α-SYN pathology in cortical neurons, crucial for LBD-associated dementia, remain… read more here.
Keywords: lewy body; body disease; derived cortical; cortical organoids ... See more keywords
DSCAM gene triplication causes excessive GABAergic synapses in the neocortex in Down syndrome mouse models
Sign Up to like & getrecommendations! Published in 2023 at "PLOS Biology"
DOI: 10.1371/journal.pbio.3002078
Abstract: Down syndrome (DS) is caused by the trisomy of human chromosome 21 (HSA21). A major challenge in DS research is to identify the HSA21 genes that cause specific symptoms. Down syndrome cell adhesion molecule (DSCAM)… read more here.
Keywords: dscam; gabaergic synapses; excessive gabaergic; triplication ... See more keywords