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127 results

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Page 1
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
Biggs CM, Cordeiro-Santanach A, Prykhozhij SV, Deveau AP, Lin Y, Del Bel KL, Orben F, Ragotte RJ, Saferali A, Mostafavi S, Dinh L, Dai D, Weinacht KG, Dobbs K, Ott de Bruin L, Sharma M, Tsai K, Priatel JJ, Schreiber RA, Rozmus J, Hosking MC, Shopsowitz KE, McKinnon ML, Vercauteren S, Seear M, Notarangelo LD, Lynn FC, Berman JN, Turvey SE. Biggs CM, et al. Among authors: dobbs k. JCI Insight. 2022 Dec 22;7(24):e150849. doi: 10.1172/jci.insight.150849. JCI Insight. 2022. PMID: 36546480 Free PMC article.
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.
Felgentreff K, Du L, Weinacht KG, Dobbs K, Bartish M, Giliani S, Schlaeger T, DeVine A, Schambach A, Woodbine LJ, Davies G, Baxi SN, van der Burg M, Bleesing J, Gennery A, Manis J, Pan-Hammarström Q, Notarangelo LD. Felgentreff K, et al. Among authors: dobbs k. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8889-94. doi: 10.1073/pnas.1323649111. Epub 2014 Jun 2. Proc Natl Acad Sci U S A. 2014. PMID: 24889605 Free PMC article.
Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.
Rissone A, Weinacht KG, la Marca G, Bishop K, Giocaliere E, Jagadeesh J, Felgentreff K, Dobbs K, Al-Herz W, Jones M, Chandrasekharappa S, Kirby M, Wincovitch S, Simon KL, Itan Y, DeVine A, Schlaeger T, Schambach A, Sood R, Notarangelo LD, Candotti F. Rissone A, et al. Among authors: dobbs k. J Exp Med. 2015 Jul 27;212(8):1185-202. doi: 10.1084/jem.20141286. Epub 2015 Jul 6. J Exp Med. 2015. PMID: 26150473 Free PMC article.
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. Volpi S, et al. Among authors: dobbs k. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. J Exp Med. 2017. PMID: 28148688 Free PMC article.
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.
Biggs CM, Kostjukovits S, Dobbs K, Laakso S, Klemetti P, Valta H, Taskinen M, Mäkitie O, Notarangelo LD. Biggs CM, et al. Among authors: dobbs k. J Clin Immunol. 2017 Aug;37(6):508-510. doi: 10.1007/s10875-017-0408-4. Epub 2017 Jun 19. J Clin Immunol. 2017. PMID: 28631025 Free PMC article. No abstract available.
Architecture of the human PI4KIIIα lipid kinase complex.
Lees JA, Zhang Y, Oh MS, Schauder CM, Yu X, Baskin JM, Dobbs K, Notarangelo LD, De Camilli P, Walz T, Reinisch KM. Lees JA, et al. Among authors: dobbs k. Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):13720-13725. doi: 10.1073/pnas.1718471115. Epub 2017 Dec 11. Proc Natl Acad Sci U S A. 2017. PMID: 29229838 Free PMC article.
Severe influenza pneumonitis in children with inherited TLR3 deficiency.
Lim HK, Huang SXL, Chen J, Kerner G, Gilliaux O, Bastard P, Dobbs K, Hernandez N, Goudin N, Hasek ML, García Reino EJ, Lafaille FG, Lorenzo L, Luthra P, Kochetkov T, Bigio B, Boucherit S, Rozenberg F, Vedrinne C, Keller MD, Itan Y, García-Sastre A, Celard M, Orange JS, Ciancanelli MJ, Meyts I, Zhang Q, Abel L, Notarangelo LD, Snoeck HW, Casanova JL, Zhang SY. Lim HK, et al. Among authors: dobbs k. J Exp Med. 2019 Sep 2;216(9):2038-2056. doi: 10.1084/jem.20181621. Epub 2019 Jun 19. J Exp Med. 2019. PMID: 31217193 Free PMC article.
Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia.
Bosticardo M, Pala F, Calzoni E, Delmonte OM, Dobbs K, Gardner CL, Sacchetti N, Kawai T, Garabedian EK, Draper D, Bergerson JRE, DeRavin SS, Freeman AF, Güngör T, Hartog N, Holland SM, Kohn DB, Malech HL, Markert ML, Weinacht KG, Villa A, Seet CS, Montel-Hagen A, Crooks GM, Notarangelo LD. Bosticardo M, et al. Among authors: dobbs k. Blood Adv. 2020 Jun 23;4(12):2611-2616. doi: 10.1182/bloodadvances.2020001730. Blood Adv. 2020. PMID: 32556283 Free PMC article.
Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.
Chitty-Lopez M, Westermann-Clark E, Dawson I, Ujhazi B, Csomos K, Dobbs K, Le K, Yamazaki Y, Sadighi Akha AA, Chellapandian D, Oshrine B, Notarangelo LD, Sunkersett G, Leiding JW, Walter JE. Chitty-Lopez M, et al. Among authors: dobbs k. Front Immunol. 2020 Sep 29;11:1954. doi: 10.3389/fimmu.2020.01954. eCollection 2020. Front Immunol. 2020. PMID: 33117328 Free PMC article.
127 results