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UnknownPrognostic Value of PIK3R4 Expression and Its Correlation with Immune Cell Infiltration in the Diffuse Large B-cell Lymphoma Microenvironment.
Not available
S-EPMC10475369 | biostudies-literature
UnknownA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.
Not available
S-EPMC5123056 | biostudies-literature
GenomicsA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
VPS15 is known as a VPS34-associated protein that functions in intracellular trafficking and autophagy. Here the authors identify a role for VPS15 in cilopathy and ciliary phenotypes, and show that it interacts with GM130 and functions in IFT20-dependent cis-Golgi to cilium trafficking.
EGAS00001002075 | EGA
Genomicsena-DATASET-U1112-11-10-2016-17:37:16:253-103 - samples
WES of human: A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi WES (Agilent SureSelect All Exon XT2 50 Mb kit) has been realized on three affected siblings (II.1, II.3, II.5) and one healthy sister (II.4). Raw data (BAM files) are provided: - II.1.aligne...
EGAD00001002736 | EGA
UnknownPhosphoinositide-3-kinase regulatory subunit 4 participates in the occurrence and development of amyotrophic lateral sclerosis by regulating autophagy.
Not available
S-EPMC8771104 | biostudies-literature
UnknownNRBF2 homodimerization by its coiled-coil domain strengthens association with the PtdIns3K complex mediated by the MIT domain to promote autophagy.
Not available
S-EPMC12758336 | biostudies-literature
TranscriptomicsIntegrated genomic and transcriptional profiling yields putative marker genes for cervical cancer
A better understanding of the consequences of recurrent (epi)genetic alterations that occur during cervical carcinogenesis is essential in the search for novel biomarkers. In this study we determined genome-wide expression profiles of 10 squamous cell carcinomas (SCCs), 5 adenocarcinomas (AdCAs) and...
ORGANISM(S): Homo sapiens 
2010-06-25 | E-GEOD-6473 | biostudies-arrayexpress
UnknownThe ingenious ULKs: expanding the repertoire of the ULK complex with phosphoproteomics.
Not available
S-EPMC8726633 | biostudies-literature
UnknownDysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression.
Not available
S-EPMC11521414 | biostudies-literature
UnknownLRBA deficiency impairs autophagy and contributes to enhanced antigen presentation and T-cell dysregulation.
Not available
S-EPMC12373796 | biostudies-literature
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