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ProteomicsDeoxyhypusine synthase (DHPS) mutations alter the post-translational modification of eukaryotic initiation factor 5A (eIF5A) resulting in impaired human and mouse neural homeostasis
DHPS deficiency is a rare genetic disease caused by biallelic hypomorphic variants in the Deoxyhypusine synthase (DHPS) gene. The DHPS enzyme functions in mRNA translation by catalyzing the post-translational modification, and therefore activation, of the eukaryotic initiation factor 5A (eIF5A). The...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-06-06 | MSV000092112 | MassIVE
TranscriptomicsExpression data from Sh2b3 Knock-out NOTCH1-induced leukemias
To formally address the tumor suppressor activity of Sh2b3 in vivo, we tested the interaction between oncogenic NOTCH1 and Sh2b3 loss in a retroviral- transduction bone marrow transplantation model of NOTCH-induced T-ALL Forced expression of activated NOTCH1 in this model typically results in full l...
ORGANISM(S): Mus musculus 
2013-11-06 | E-GEOD-44025 | biostudies-arrayexpress
GenomicsNational Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC)

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA of probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in p...

phs000571.v1.p1 | EGA
GenomicsCopy Number Variation in Congenital Kidney Malformations

We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric an...

phs000565.v1.p1 | EGA
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