Genetics of Early Development

of the Laboratory of Biochemistry and Genetics

Modeling rare human monogenic diseases in the nematode C. elegans.

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Loss of the seipin gene perturbs eggshell formation in Caenorhabditis elegans.
Bai X, Huang LJ, Chen SW, Nebenfuehr B, Wysolmerski B, Wu JC, Olson SK, Golden A, Wang CW.
Development (2020 Oct 16) 147. Abstract/Full Text
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Kim S, Twigg SRF, Scanlon VA, Chandra A, Hansen TJ, Alsubait A, Fenwick AL, McGowan SJ, Lord H, Lester T, Sweeney E, Weber A, Cox H, Wilkie AOM, Golden A, Corsi AK.
Hum Mol Genet (2017 Jun 1) 26:2118-2132. Abstract/Full Text
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