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TranscriptomicsPenetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression (3)
Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila, and mo...
ORGANISM(S): Mus musculus 
2012-04-04 | E-GEOD-35553 | biostudies-arrayexpress
TranscriptomicsPenetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression
This SuperSeries is composed of the following subset Series: GSE35551: Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression (1) GSE35552: Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturb...
ORGANISM(S): Homo sapiens 
2012-04-04 | E-GEOD-35554 | biostudies-arrayexpress
ProteomicsSMARCAL1 is a dual regulator of innate immune signaling and PD-L1 expression that promotes tumor immune evasion
Although genomic instability can trigger cancer-intrinsic innate immune responses that promote tumor rejection, cancer cells often evade these responses by overexpressing immune checkpoint regulators, such as PD-L1. Here, we identify the SNF2-family DNA translocase SMARCAL1 as a factor that favors t...
ORGANISM(S): Homo sapiens (Human) 
2024-01-24 | PXD046384 | Pride
Smarcal1 Mda-mb-436 cells Bioid 
TranscriptomicsPenetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression (1)
Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila, and...
ORGANISM(S): Homo sapiens 
2012-04-04 | E-GEOD-35551 | biostudies-arrayexpress
TranscriptomicsPenetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression (2)
Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila, and...
ORGANISM(S): Drosophila melanogaster 
2012-04-04 | E-GEOD-35552 | biostudies-arrayexpress
GenomicsChromatin regulator SMARCAL1 modulates cellular lipid metabolism
Chromatin regulator SMARCAL1 modulates cellular lipid metabolism
PRJNA914046 | ENA
TranscriptomicsChromatin regulator SMARCAL1 modulates cellular lipid metabolism
Biallelic mutations of the chromatin regulator SMARCAL1 cause Schimke Immunoosseous Dysplasia (SIOD), characterized by severe growth defects and premature mortality. Atherosclerosis and hyperlipidemia are common among SIOD patients, yet their onset and progression are poorly understood. Using an int...
ORGANISM(S): Homo sapiens 
2025-02-19 | GSE221372 | GEO
UnknownChromatin regulator SMARCAL1 modulates cellular lipid metabolism.
Not available
S-EPMC10739977 | biostudies-literature
UnknownOn the Interaction Between SMARCAL1 and BRG1.
Not available
S-EPMC9243424 | biostudies-literature
UnknownSMARCAL1 is a new osteosarcoma predisposition gene.
Not available
S-EPMC12702491 | biostudies-literature
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