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SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS. Wormser O, et al. Among authors: abdu u. Eur J Hum Genet. 2019 Jun;27(6):928-940. doi: 10.1038/s41431-019-0347-z. Epub 2019 Feb 5. Eur J Hum Genet. 2019. PMID: 30723319 Free PMC article. Clinical Trial.
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS. Kadir R, et al. Among authors: abdu u. PLoS Genet. 2016 Mar 23;12(3):e1005919. doi: 10.1371/journal.pgen.1005919. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 27008544 Free PMC article.
SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS. Halperin D, et al. Among authors: abdu u. J Med Genet. 2019 Mar;56(3):139-148. doi: 10.1136/jmedgenet-2018-105503. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464055
Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.
Wormser O, Levy Y, Bakhrat A, Bonaccorsi S, Graziadio L, Gatti M, AbuMadighem A, McKenney RJ, Okada K, El Riati S, Har-Vardi I, Huleihel M, Levitas E, Birk OS, Abdu U. Wormser O, et al. Among authors: abdu u. J Med Genet. 2021 Apr;58(4):254-263. doi: 10.1136/jmedgenet-2020-106946. Epub 2020 Jun 11. J Med Genet. 2021. PMID: 32527956 Free PMC article.
PSMC1 variant causes a novel neurological syndrome.
Aharoni S, Proskorovski-Ohayon R, Krishnan RK, Yogev Y, Wormser O, Hadar N, Bakhrat A, Alshafee I, Gombosh M, Agam N, Gradstein L, Shorer Z, Zarivach R, Eskin-Schwartz M, Abdu U, Birk OS. Aharoni S, et al. Among authors: abdu u. Clin Genet. 2022 Oct;102(4):324-332. doi: 10.1111/cge.14195. Epub 2022 Aug 3. Clin Genet. 2022. PMID: 35861243 Free PMC article.
54 results