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Article

Baz1b Dosage Influences Cardiovascular Function, Predisposing to Dilated Cardiomyopathy.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2022

McIntosh Basil, Knutsen Russell, Levin Mark, Fu Yi-Ping, Springer Danielle, Kronquist Elise, Pai Christopher, Heuckeroth Robert, Kozel Beth

Abstract excerpt

BAZ1B is one of several genes deleted in Williams-Beuren Syndrome (WBS), a complex, multisystem genetic condition that occurs in ~1 in 8000 live births. Also known as Williams Syndrome Transcription Factor (WSTF), BAZ1B is thought to be essential for neural crest migration. To evaluate the impact of Baz1b loss of function, we evaluated the "knockout first" allele of Baz1btm2a(KOMP)Wtsi . Quantitative PCR revealed...

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PMID: 35723872
DOI: 10.1096/fasebj.2022.36.S1.R2293

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