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Page 1
Lung Epithelium Releases Growth Differentiation Factor 15 in Response to Pathogen-mediated Injury.
Shah FA, Bahudhanapati H, Jiang M, Tabary M, van der Geest R, Tolman NJ, Kochin M, Xiong Z, Al-Yousif N, Sayed K, Benos PV, Raffensperger K, Evankovich J, Neal MD, Snyder ME, Eickelberg O, Ray P, Dela Cruz C, Bon J, McVerry BJ, Straub AC, Jurczak MJ, Suber TL, Zhang Y, Chen K, Kitsios GD, Lee JS, Alder JK, Bain WG. Shah FA, et al. Among authors: tolman nj. Am J Respir Cell Mol Biol. 2024 May;70(5):379-391. doi: 10.1165/rcmb.2023-0429OC. Am J Respir Cell Mol Biol. 2024. PMID: 38301257 Free PMC article.
In vivo evolution of a Klebsiella pneumoniae capsule defect with wcaJ mutation promotes complement-mediated opsono-phagocytosis during recurrent infection.
Bain W, Ahn B, Peñaloza HF, McElheny CL, Tolman N, van der Geest R, Gonzalez-Ferrer S, Chen N, An X, Hosuru R, Tabary M, Papke E, Kohli N, Farooq N, Bachman W, Olonisakin TF, Xiong Z, Griffith MP, Sullivan M, Franks J, Mustapha MM, Iovleva A, Suber T, Shanks RQ, Ferreira VP, Stolz DB, Van Tyne D, Doi Y, Lee JS. Bain W, et al. J Infect Dis. 2024 Jan 25:jiae003. doi: 10.1093/infdis/jiae003. Online ahead of print. J Infect Dis. 2024. PMID: 38271564
In vivo evolution of a Klebsiella pneumoniae capsule defect promotes complement-mediated opsono-phagocytosis and persistence during recurrent infection.
Bain W, Ahn B, Peñaloza HF, McElheny CL, Tolman N, van der Geest R, Gonzalez-Ferrer S, Chen N, An X, Hosuru R, Tabary M, Papke E, Kohli N, Farooq N, Bachman W, Olonisakin TF, Xiong Z, Griffith MP, Sullivan M, Franks J, Mustapha MM, Iovleva A, Suber T, Shanks RQ, Ferreira VP, Stolz DB, Van Tyne D, Doi Y, Lee JS. Bain W, et al. bioRxiv [Preprint]. 2023 Jun 1:2023.05.31.542722. doi: 10.1101/2023.05.31.542722. bioRxiv. 2023. PMID: 37398264 Free PMC article. Updated. Preprint.
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Abudi-Sinreich S, Bodine SP, Yokoyama T, Tolman NJ, Tyrlik M, Testa LC, Han CG, Dorward HM, Wincovitch SM, Anikster Y, Gahl WA, Cinar R, Gochuico BR, Malicdan MCV. Abudi-Sinreich S, et al. Among authors: tolman nj. Respir Res. 2022 May 4;23(1):112. doi: 10.1186/s12931-022-02002-z. Respir Res. 2022. PMID: 35509004 Free PMC article.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members; Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: tolman nj. Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. Am J Hum Genet. 2018. PMID: 30526868 Free PMC article.
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: tolman nj. Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24. Hum Genet. 2018. PMID: 29691655 Free PMC article.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
16 results