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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: specht s. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Akt Regulates a Rab11-Effector Switch Required for Ciliogenesis.
Walia V, Cuenca A, Vetter M, Insinna C, Perera S, Lu Q, Ritt DA, Semler E, Specht S, Stauffer J, Morrison DK, Lorentzen E, Westlake CJ. Walia V, et al. Among authors: specht s. Dev Cell. 2019 Jul 22;50(2):229-246.e7. doi: 10.1016/j.devcel.2019.05.022. Epub 2019 Jun 13. Dev Cell. 2019. PMID: 31204173 Free PMC article.
TNIK Is a Therapeutic Target in Lung Squamous Cell Carcinoma and Regulates FAK Activation through Merlin.
Torres-Ayuso P, An E, Nyswaner KM, Bensen RC, Ritt DA, Specht SI, Das S, Andresson T, Cachau RE, Liang RJ, Ries AL, Robinson CM, Difilippantonio S, Gouker B, Bassel L, Karim BO, Miller CJ, Turk BE, Morrison DK, Brognard J. Torres-Ayuso P, et al. Among authors: specht si. Cancer Discov. 2021 Jun;11(6):1411-1423. doi: 10.1158/2159-8290.CD-20-0797. Epub 2021 Jan 25. Cancer Discov. 2021. PMID: 33495197 Free PMC article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
241 results