Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

ABSTRACT: 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 disturbances of gene expression (2) GSE35553: Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression (3) Refer to individual Series

ORGANISM(S): Homo sapiens

SUBMITTER: Alireza Baradaran-Heravi

PROVIDER: E-GEOD-35554 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Baradaran-Heravi Alireza A Cho Kyoung Sang KS Tolhuis Bas B Sanyal Mrinmoy M Morozova Olena O Morimoto Marie M Elizondo Leah I LI Bridgewater Darren D Lubieniecka Joanna J Beirnes Kimberly K Myung Clara C Leung Danny D Fam Hok Khim HK Choi Kunho K Huang Yan Y Dionis Kira Y KY Zonana Jonathan J Keller Kory K Stenzel Peter P Mayfield Christy C Lücke Thomas T Bokenkamp Arend A Marra Marco A MA van Lohuizen Maarten M Lewis David B DB Shaw Chad C Boerkoel Cornelius F CF

Human molecular genetics 20120228 11

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 mouse models, we show that the proteins encoded by SMARCAL1 orthologs localize to transcriptionally active chromatin and modulate gene expression. We also show that, as found in SIOD patients, deficien ...[more]

PMID: 22378147

Dataset Information

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Publications

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

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