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TranscriptomicsAffymetrix SNP 6.0 data for individuals with Trisomy 21 or Down syndrome
Individuals with Down syndrome (DS) are at an increased risk for developing congenital heart defects especially atrioventricular septal defects (AVSD). Our goal was to identify the contribution of copy number variants (CNV) to DS-associated AVSD. We used the Affymetrix SNP 6.0 genotyping platform to...
ORGANISM(S): Homo sapiens 
2014-10-24 | E-GEOD-60607 | biostudies-arrayexpress
ProteomicsRab5a-VPS34 unnatural amino acid mediated crosslinking
The small GTPase Rab5 has an essential role in sorting vesicles arriving to and leaving the early endosome. One key function of Rab5 in this process is the activation of the primordial phosphatidylinositol 3-kinase VPS34, a lipid kinase that phosphorylates phosphatidylinositol (PI) to generate PI3P....
ORGANISM(S): Homo Sapiens (human) 
2021-12-21 | PXD023533 | JPOST Repository
UnknownAbnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome.
Not available
S-EPMC3934180 | biostudies-literature
UnknownSurgical repair of bicuspid aortopathy at small diameters: Clinical and institutional factors.
Not available
S-EPMC7035185 | biostudies-literature
UnknownRecurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Not available
S-EPMC3738837 | biostudies-literature
UnknownImpact of cardiometabolic multimorbidity and ethnicity on cardiovascular/renal complications in patients with COVID-19.
Not available
S-EPMC8678560 | biostudies-literature
UnknownPara-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses.
Not available
S-EPMC10746705 | biostudies-literature
UnknownSARS-CoV-2-specific nasal IgA wanes 9 months after hospitalisation with COVID-19 and is not induced by subsequent vaccination.
Not available
S-EPMC9762734 | biostudies-literature
UnknownThe impact of viral mutations on recognition by SARS-CoV-2 specific T cells.
Not available
S-EPMC8552693 | biostudies-literature
UnknownMapping the human genetic architecture of COVID-19.
Not available
S-EPMC8674144 | biostudies-literature
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