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Page 1
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: wambach ja. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.
Guo M, Wikenheiser-Brokamp KA, Kitzmiller JA, Jiang C, Wang G, Wang A, Preissl S, Hou X, Buchanan J, Karolak JA, Miao Y, Frank DB, Zacharias WJ, Sun X, Xu Y, Gu M, Stankiewicz P, Kalinichenko VV, Wambach JA, Whitsett JA. Guo M, et al. Among authors: wambach ja. Am J Respir Crit Care Med. 2023 Sep 15;208(6):709-725. doi: 10.1164/rccm.202210-2015OC. Am J Respir Crit Care Med. 2023. PMID: 37463497 Free PMC article.
Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease.
Alysandratos KD, Russo SJ, Petcherski A, Taddeo EP, Acín-Pérez R, Villacorta-Martin C, Jean JC, Mulugeta S, Rodriguez LR, Blum BC, Hekman RM, Hix OT, Minakin K, Vedaie M, Kook S, Tilston-Lunel AM, Varelas X, Wambach JA, Cole FS, Hamvas A, Young LR, Liesa M, Emili A, Guttentag SH, Shirihai OS, Beers MF, Kotton DN. Alysandratos KD, et al. Among authors: wambach ja. Cell Rep. 2021 Aug 31;36(9):109636. doi: 10.1016/j.celrep.2021.109636. Cell Rep. 2021. PMID: 34469722 Free PMC article.
Towards personalized therapies for genetic disorders of surfactant dysfunction.
Peers de Nieuwburgh M, Wambach JA, Griese M, Danhaive O. Peers de Nieuwburgh M, et al. Among authors: wambach ja. Semin Fetal Neonatal Med. 2023 Dec;28(6):101500. doi: 10.1016/j.siny.2023.101500. Epub 2023 Nov 22. Semin Fetal Neonatal Med. 2023. PMID: 38036307 Free PMC article. Review.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: wambach ja. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
First Steps toward Personalized Therapies for ABCA3 Deficiency.
Wambach JA, Nogee LM, Cole FS. Wambach JA, et al. Am J Respir Cell Mol Biol. 2022 Apr;66(4):349-350. doi: 10.1165/rcmb.2021-0405ED. Am J Respir Cell Mol Biol. 2022. PMID: 35077664 Free PMC article. No abstract available.
The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort.
Nevel RJ, Deutsch GH, Craven D, Deterding R, Fishman MP, Wambach JA, Casey A, Krone K, Liptzin DR, O'Connor MG, Kurland G, Taylor JB, Gower WA, Hagood JS, Conrad C, Tam-Williams JB, Fiorino EK, Goldfarb S, Sadreameli SC, Nogee LM, Montgomery G, Hamvas A, Laguna TA, Bansal M, Lew C, Santiago M, Popova A, De A, Chan M, Powers MR, Josephson MB, Camburn D, Voss L, Li Y, Young LR; chILD Registry Collaborative. Nevel RJ, et al. Among authors: wambach ja. Pediatr Pulmonol. 2024 Sep;59(9):2236-2246. doi: 10.1002/ppul.26568. Epub 2023 Jul 4. Pediatr Pulmonol. 2024. PMID: 37401889
65 results