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Schizophrenia (SCZ) is a common, disabling mental illness with high heritability but complex, poorly understood genetic etiology. As the first phase of a genomic convergence analysis of SCZ, we generated 16.7 billion nucleotides of short read, shotgun sequences of cDNA from post-mortem cerebellar c...
ORGANISM(S): Homo sapiens 
Amniotic fluid volume (AFV) is determined primarily by the rate of intramembranous (IM) transport of AF cross the amnion. Intramembranous transport is characterized as vesicular endocytotic and transcytotic processes regulated by fetal urine-derived stimulators and AF inhibitors. Our objectives were...
ORGANISM(S): Ovis aries 
2021-07-21 | PXD013135 | Pride
Multiomics Analyses of Vesicular Transport Pathway-Specific Transcripts and Proteins in Ovine Amnion: Responses to Altered Intramembranous Transport
Autosomal dominant tubulointerstitial kidney disease associated to the MUC1 gene (ADTKD-MUC1; formerly MCKD1) belongs to a heterogenous group of rare hereditary kidney diseases that is prototypically caused by frameshift mutations in the MUC1 repeat domain. The mutant MUC1(insC) lacks the transmembr...
ORGANISM(S): Homo sapiens (Human) 
2018-02-23 | PXD008389 | Pride
Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an escort protein involved in the prenylation of Rabs. Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could affect vesicu...
ORGANISM(S): Homo sapiens 
Amniotic fluid (AF) volume (AFV) is determined primarily by the rate of intramembranous (IM) transport of AF across the amnion. Intramembranous transport is characterized as vesicular endocytotic and transcytotic processes regulated by fetal urine-derived stimulators and AF inhibitors. Our objective...
ORGANISM(S): Ovis aries 
2019-03-30 | GSE129077 | GEO
Regulation of cellular cholesterol distribution via non-vesicular lipid transport at ER-Golgi contact sites
RBFOX2/GOLIM4 Splicing Axis Activates Vesicular Transport Pathway to Promote Nasopharyngeal Carcinogenesis
Schizophrenia (SCZ) is a common, disabling mental illness with high heritability but complex, poorly understood genetic etiology. As the first phase of a genomic convergence analysis of SCZ, we generated 16.7 billion nucleotides of short read, shotgun sequences of cDNA from post-mortem cerebellar co...
ORGANISM(S): Homo sapiens 
2008-11-12 | GSE12297 | GEO
The X-chromosomal dystonia parkinsonism syndrome (XDP) is associated with sequence changes within the TAF1/DYT3 multiple transcript system. While most sequence changes are intronic, one, DSC3, is located within an exon (d4). Transcribed exon d4 occurs as part of multiple splice variants. These varia...
ORGANISM(S): Homo sapiens 
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