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432 results

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Page 1
A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors.
Tilgner K, Neganova I, Moreno-Gimeno I, Al-Aama JY, Burks D, Yung S, Singhapol C, Saretzki G, Evans J, Gorbunova V, Gennery A, Przyborski S, Stojkovic M, Armstrong L, Jeggo P, Lako M. Tilgner K, et al. Among authors: gennery a. Cell Death Differ. 2013 Aug;20(8):1089-100. doi: 10.1038/cdd.2013.44. Epub 2013 May 31. Cell Death Differ. 2013. PMID: 23722522 Free PMC article.
Brief report: a human induced pluripotent stem cell model of cernunnos deficiency reveals an important role for XLF in the survival of the primitive hematopoietic progenitors.
Tilgner K, Neganova I, Singhapol C, Saretzki G, Al-Aama JY, Evans J, Gorbunova V, Gennery A, Przyborski S, Stojkovic M, Armstrong L, Jeggo P, Lako M. Tilgner K, et al. Among authors: gennery a. Stem Cells. 2013 Sep;31(9):2015-23. doi: 10.1002/stem.1456. Stem Cells. 2013. PMID: 23818183
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: gennery a. 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.
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Revy P, et al. Among authors: gennery a. Cell. 2000 Sep 1;102(5):565-75. doi: 10.1016/s0092-8674(00)00079-9. Cell. 2000. PMID: 11007475 Free article.
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?
Fernandes JF, Rocha V, Labopin M, Neven B, Moshous D, Gennery AR, Friedrich W, Porta F, Diaz de Heredia C, Wall D, Bertrand Y, Veys P, Slatter M, Schulz A, Chan KW, Grimley M, Ayas M, Gungor T, Ebell W, Bonfim C, Kalwak K, Taupin P, Blanche S, Gaspar HB, Landais P, Fischer A, Gluckman E, Cavazzana-Calvo M; Eurocord and Inborn Errors Working Party of European Group for Blood and Marrow Transplantation. Fernandes JF, et al. Among authors: gennery ar. Blood. 2012 Mar 22;119(12):2949-55. doi: 10.1182/blood-2011-06-363572. Epub 2012 Feb 3. Blood. 2012. PMID: 22308292 Free article.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: gennery a. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
432 results