Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Purpose: Signaling by the morphogen all-trans retinoic acid (RA) is critical for embryonic development, during which its tissue concentration must be tightly regulated. We investigated 8 sibships (12 individuals) segregating 5 different homozygous variants of dehydrogenase/reductase 3 (DHRS3), which...

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Main Authors: Akiko Soneda Hashimoto, Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao, Nageswara Pilli, Tian Liu, Jonathon Russell, Rebecca S. Tooze, Stephen R.F. Twigg, Siddharth Banka, Elizabeth Sweeney, Simon J. McGowan, Samantha J.L. Knight, Jenny C. Taylor, Tawfiq Jamal Froukh, M. Irene Valenzuela Palafoll, Núria Martínez-Gil, Mar Costa-Roger, Maria Teresa Villarreal-Molina, Esther Lieberman Hernandez, Rami Abou Jamra, Felix Gattermann, Margarete Koch-Hogrebe, Dagmar Wieczorek, Paul A. Trainor, Alexander R. Moise, Andrew O.M. Wilkie, Maureen A. Kane
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
5′-untranslated region
Craniosynostosis
Noncoding variant
Retinoic acid
Vitamin A
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425014669
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