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Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects.

Autor: Truong BT; Human Medical Genetics & Genomics Graduate Program, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, USA.; Department of Craniofacial Development, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, USA., Shull LC; Department of Craniofacial Development, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, USA., Zepeda BJ; Department of Diagnostic and Biological Sciences, University of Minnesota School of Dentistry, Minneapolis, Minnesota, USA., Lencer E; Biology Department, Lafayette College, Easton, Pennsylvania, USA., Artinger KB; Department of Craniofacial Development, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, USA.; Department of Diagnostic and Biological Sciences, University of Minnesota School of Dentistry, Minneapolis, Minnesota, USA.

Publikováno v: Birth defects research [Birth Defects Res] 2024 Mar; Vol. 116 (3), pp. e2327.

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.

Autor: Truong BT; Human Medical Genetics & Genomics Graduate Program, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA.; Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA., Shull LC; Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA., Lencer E; Biology Department, Lafayette College, Easton, PA 18042, USA., Bend EG; Greenwood Genetics Center, Greenwood, SC 29646, USA., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, AUS., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Bamshad MJ; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Skinner C; Greenwood Genetics Center, Greenwood, SC 29646, USA., Everman D; Greenwood Genetics Center, Greenwood, SC 29646, USA., Schwartz CE; Greenwood Genetics Center, Greenwood, SC 29646, USA., Flanagan-Steet H; Greenwood Genetics Center, Greenwood, SC 29646, USA., Artinger KB; Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2023 Apr 01; Vol. 16 (4). Date of Electronic Publication: 2023 Apr 21.