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Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.
Zambetti NA, Bindels EM, Van Strien PM, Valkhof MG, Adisty MN, Hoogenboezem RM, Sanders MA, Rommens JM, Touw IP, Raaijmakers MH. Zambetti NA, et al. Among authors: rommens jm. Haematologica. 2015 Oct;100(10):1285-93. doi: 10.3324/haematol.2015.131573. Epub 2015 Jul 16. Haematologica. 2015. PMID: 26185170 Free PMC article.
Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia.
Raaijmakers MH, Mukherjee S, Guo S, Zhang S, Kobayashi T, Schoonmaker JA, Ebert BL, Al-Shahrour F, Hasserjian RP, Scadden EO, Aung Z, Matza M, Merkenschlager M, Lin C, Rommens JM, Scadden DT. Raaijmakers MH, et al. Among authors: rommens jm. Nature. 2010 Apr 8;464(7290):852-7. doi: 10.1038/nature08851. Epub 2010 Mar 21. Nature. 2010. PMID: 20305640 Free PMC article.
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. Dror Y, et al. Among authors: rommens j. Ann N Y Acad Sci. 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x. Ann N Y Acad Sci. 2011. PMID: 22191555
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM. Goobie S, et al. Among authors: rommens jm. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15. Am J Hum Genet. 2001. PMID: 11254457 Free PMC article.
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. Boocock GR, et al. Among authors: rommens jm. Nat Genet. 2003 Jan;33(1):97-101. doi: 10.1038/ng1062. Epub 2002 Dec 23. Nat Genet. 2003. PMID: 12496757
162 results