Article
Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.
Journal of medical genetics - 1 Apr 2021
Wormser Ohad, Levy Ygal, Bakhrat Anna, Bonaccorsi Silvia, Graziadio Lucia, Gatti Maurizio, AbuMadighem Ali, McKenney Richard J, Okada Kyoko, El Riati Saad, Har-Vardi Iris, Huleihel Mahmoud, Levitas Eliahu, Birk Ohad S, Abdu Uri
Abstract excerpt
BACKGROUND: Mutation in S-phase cyclin A-associated protein rin the endoplasmic reticulum (SCAPER) have been found across ethnicities and have been shown to cause variable penetrance of an array of pathological traits, including intellectual disability, retinitis pigmentosa and ciliopathies. METHODS: Human clinical phenotyping, surgical testicular sperm extraction and testicular tissue staining. Generation and...
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