{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Azad P"],"funding":["NHLBI NIH HHS","Wellcome Trust","NIGMS NIH HHS","NIH HHS"],"pagination":["777-787"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9256584"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["54(6)"],"pubmed_abstract":["At high altitude Andean region, hypoxia-induced excessive erythrocytosis (EE) is the defining feature of Monge's disease or chronic mountain sickness (CMS). At the same altitude, resides a population that has developed adaptive mechanism(s) to constrain this hypoxic response (non-CMS). In this study, we utilized an in vitro induced pluripotent stem cell model system to study both populations using genomic and molecular approaches. Our whole genome analysis of the two groups identified differential SNPs between the CMS and non-CMS subjects in the ARID1B region. Under hypoxia, the expression levels of ARID1B significantly increased in the non-CMS cells but decreased in the CMS cells. At the molecular level, ARID1B knockdown (KD) in non-CMS cells increased the levels of the transcriptional re"],"journal":["Experimental & molecular medicine"],"pubmed_title":["ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease."],"pmcid":["PMC9256584"],"funding_grant_id":["107544/Z/15/Z","S10 OD026929","R01 HL146530","R01 GM114362"],"pubmed_authors":["Bafna V","Azad P","Ramachandran S","Haddad GG","Akbari A","Bermudez D","Caldwell AB","Poulsen O","Zhou D","Spann NJ","Subramaniam S","Villafuerte FC","Zhao H"],"additional_accession":[]},"is_claimable":false,"name":"ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease.","description":"At high altitude Andean region, hypoxia-induced excessive erythrocytosis (EE) is the defining feature of Monge's disease or chronic mountain sickness (CMS). At the same altitude, resides a population that has developed adaptive mechanism(s) to constrain this hypoxic response (non-CMS). In this study, we utilized an in vitro induced pluripotent stem cell model system to study both populations using genomic and molecular approaches. Our whole genome analysis of the two groups identified differential SNPs between the CMS and non-CMS subjects in the ARID1B region. Under hypoxia, the expression levels of ARID1B significantly increased in the non-CMS cells but decreased in the CMS cells. At the molecular level, ARID1B knockdown (KD) in non-CMS cells increased the levels of the transcriptional re","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jun","modification":"2025-04-05T12:39:17.561Z","creation":"2024-11-20T06:55:26.686Z"},"accession":"S-EPMC9256584","cross_references":{"pubmed":["35672450"],"doi":["10.1038/s12276-022-00769-1"]}}