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ProteomicsProteome analysis of the retina from RhoQ344X/+ mouse
Retinal proteomes from wild-type and RhoQ344X mutant mice at postnatal day 35 were analyzed by label-free quantitative proteomics to understand proteomic change caused by the rhodopsin mutation.
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-11-08 | MSV000093339 | MassIVE
ProteomicsPCBP1 regulates aberrant alternative splicing of AARS2 in congenital cardiomyopathy
Alanyl-transfer RNA synthetase 2 (AARS2) is a nuclear encoded mitochondrial tRNA synthetase that is responsible for charging of tRNA-Ala with alanine during mitochondrial translation. Homozygous or compound heterozygous mutations in the Aars2 gene, including those affecting its splicing, are linked ...
ORGANISM(S): Mus musculus (Mouse) 
2026-02-16 | PXD057114 | Pride
UnknownA genetic approach to access serotonin neurons for in vivo and in vitro studies.
Not available
S-EPMC1283423 | biostudies-literature
UnknownHuman endometriosis is associated with plasma cells and overexpression of B lymphocyte stimulator.
Not available
S-EPMC1941489 | biostudies-literature
UnknownImpaired echocardiographic left ventricular global longitudinal strain after pediatric cardiac arrest children is associated with mortality.
Not available
S-EPMC10802989 | biostudies-literature
UnknownInverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.
Not available
S-EPMC3694501 | biostudies-literature
ProteomicsRBPJ/CBF1 interacts with L3MBTL3/MBT1 to promote repression of Notch signaling via histone demethylase KDM1A/LSD1
Notch signaling is an evolutionarily conserved signal transduction pathway that is essential for metazoan development. At the molecular level, the key components of the Notch pathway are the NOTCH-family receptors, the ligands of the DSL (Delta, Serrate, Lag-2) family and the transcription factor CS...
ORGANISM(S): Homo sapiens (Human) 
2017-10-17 | PXD004196 | Pride
Rbpj Notch Kdm1a L3mbtl3 
UnknownGenomic Profiling Aids Classification of Diagnostically Challenging Uterine Mesenchymal Tumors With Myomelanocytic Differentiation.
Not available
S-EPMC8276853 | biostudies-literature
UnknownRare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
Not available
S-EPMC4245465 | biostudies-literature
UnknownMutations in the gene that encodes the F-actin binding protein anillin cause FSGS.
Not available
S-EPMC4147982 | biostudies-literature
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