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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: wagner r. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
Overactivated Epithelial NF-κB Disrupts Lung Development in Congenital Diaphragmatic Hernia.
Dylong F, Riedel J, Amonkar GM, Peukert N, Lieckfeldt P, Sturm K, Höxter B, Tse WH, Miyake Y, Moormann M, Bode LM, Mayer S, Keijzer R, Lacher M, Ai X, Gosemann JH, Wagner R. Dylong F, et al. Among authors: wagner r. Am J Respir Cell Mol Biol. 2023 Nov;69(5):545-555. doi: 10.1165/rcmb.2023-0138OC. Am J Respir Cell Mol Biol. 2023. PMID: 37552822
Thoracoscopic Repair of Congenital Diaphragmatic Hernia.
Wagner R, Mayer S, Feng X, Gosemann JH, Zimmermann P, Lacher M. Wagner R, et al. Eur J Pediatr Surg. 2020 Apr;30(2):137-141. doi: 10.1055/s-0040-1702222. Epub 2020 Mar 8. Eur J Pediatr Surg. 2020. PMID: 32146719
Proteomic Profiling of Hypoplastic Lungs Suggests an Underlying Inflammatory Response in the Pathogenesis of Abnormal Lung Development in Congenital Diaphragmatic Hernia.
Wagner R, Lieckfeldt P, Piyadasa H, Markel M, Riedel J, Stefanovici C, Peukert N, Patel D, Derraugh G, Min SAL, Gosemann JH, Deprest J, Pascoe CD, Tse WH, Lacher M, Mookherjee N, Keijzer R. Wagner R, et al. Ann Surg. 2023 Aug 1;278(2):e411-e421. doi: 10.1097/SLA.0000000000005656. Epub 2022 Aug 3. Ann Surg. 2023. PMID: 35920560
4,014 results