Schwarz K - Search Results

1

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Schwarz K, et al. Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28. Nat Genet. 2009. PMID: 19561605 Free article.

2

RAG mutations in human B cell-negative SCID.

Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR. Schwarz K, et al. Science. 1996 Oct 4;274(5284):97-9. doi: 10.1126/science.274.5284.97. Science. 1996. PMID: 8810255

3

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.

Pannicke U, Tuchschmid P, Friedrich W, Bartram CR, Schwarz K. Pannicke U, et al. Among authors: schwarz k. Hum Genet. 1996 Dec;98(6):706-9. doi: 10.1007/s004390050290. Hum Genet. 1996. PMID: 8931706

4

Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype.

Linder S, Wintergerst U, Bender-Götze C, Schwarz K, Pannicke U, Aepfelbacher M. Linder S, et al. Among authors: schwarz k. Immunol Cell Biol. 2003 Apr;81(2):130-6. doi: 10.1046/j.0818-9641.2002.01147.x. Immunol Cell Biol. 2003. PMID: 12631236

5

Mechanism and regulation of human non-homologous DNA end-joining.

Lieber MR, Ma Y, Pannicke U, Schwarz K. Lieber MR, et al. Among authors: schwarz k. Nat Rev Mol Cell Biol. 2003 Sep;4(9):712-20. doi: 10.1038/nrm1202. Nat Rev Mol Cell Biol. 2003. PMID: 14506474 Review.

6

Human severe combined immune deficiency and DNA repair.

Schwarz K, Ma Y, Pannicke U, Lieber MR. Schwarz K, et al. Bioessays. 2003 Nov;25(11):1061-70. doi: 10.1002/bies.10344. Bioessays. 2003. PMID: 14579247 Review.

7

Functional and biochemical dissection of the structure-specific nuclease ARTEMIS.

Pannicke U, Ma Y, Hopfner KP, Niewolik D, Lieber MR, Schwarz K. Pannicke U, et al. Among authors: schwarz k. EMBO J. 2004 May 5;23(9):1987-97. doi: 10.1038/sj.emboj.7600206. Epub 2004 Apr 8. EMBO J. 2004. PMID: 15071507 Free PMC article.

8

The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination.

Lieber MR, Ma Y, Pannicke U, Schwarz K. Lieber MR, et al. Among authors: schwarz k. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):817-26. doi: 10.1016/j.dnarep.2004.03.015. DNA Repair (Amst). 2004. PMID: 15279766 Review.

9

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.

Enders A, Pannicke U, Berner R, Henneke P, Radlinger K, Schwarz K, Ehl S. Enders A, et al. Among authors: schwarz k. J Pediatr. 2004 Nov;145(5):698-700. doi: 10.1016/j.jpeds.2004.06.065. J Pediatr. 2004. PMID: 15520784

10

Omenn syndrome due to ARTEMIS mutations.

Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U. Ege M, et al. Among authors: schwarz k. Blood. 2005 Jun 1;105(11):4179-86. doi: 10.1182/blood-2004-12-4861. Epub 2005 Feb 24. Blood. 2005. PMID: 15731174 Free article.

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