Sperling K - Search Results

1

V(D)J rearrangement in Nijmegen breakage syndrome.

Yeo TC, Xia D, Hassouneh S, Yang XO, Sabath DE, Sperling K, Gatti RA, Concannon P, Willerford DM. Yeo TC, et al. Among authors: sperling k. Mol Immunol. 2000 Dec;37(18):1131-9. doi: 10.1016/s0161-5890(01)00026-8. Mol Immunol. 2000. PMID: 11451418

2

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. Varon R, et al. Among authors: sperling k. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180 Free article.

3

Nijmegen breakage syndrome: consequences of defective DNA double strand break repair.

Digweed M, Reis A, Sperling K. Digweed M, et al. Among authors: sperling k. Bioessays. 1999 Aug;21(8):649-56. doi: 10.1002/(SICI)1521-1878(199908)21:8<649::AID-BIES4>3.0.CO;2-O. Bioessays. 1999. PMID: 10440861 Review.

4

Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development.

Wilda M, Demuth I, Concannon P, Sperling K, Hameister H. Wilda M, et al. Among authors: sperling k. Hum Mol Genet. 2000 Jul 22;9(12):1739-44. doi: 10.1093/hmg/9.12.1739. Hum Mol Genet. 2000. PMID: 10915761

5

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K. Varon R, et al. Among authors: sperling k. Cancer Res. 2001 May 1;61(9):3570-2. Cancer Res. 2001. PMID: 11325820

6

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.

Digweed M, Sperling K. Digweed M, et al. Among authors: sperling k. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1207-17. doi: 10.1016/j.dnarep.2004.03.004. DNA Repair (Amst). 2004. PMID: 15279809 Review.

7

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.

Demuth I, Frappart PO, Hildebrand G, Melchers A, Lobitz S, Stöckl L, Varon R, Herceg Z, Sperling K, Wang ZQ, Digweed M. Demuth I, et al. Among authors: sperling k. Hum Mol Genet. 2004 Oct 15;13(20):2385-97. doi: 10.1093/hmg/ddh278. Epub 2004 Aug 27. Hum Mol Genet. 2004. PMID: 15333589

8

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Seemanová E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schröck E, Seeman P, Digweed M. Seemanová E, et al. Among authors: sperling k. J Med Genet. 2006 Mar;43(3):218-24. doi: 10.1136/jmg.2005.035287. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033915 Free PMC article.

9

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stöckl L, Spadoni E, Krüger LA, di Masi A, Sperling K, Digweed M, Maraschio P. Varon R, et al. Among authors: sperling k. Hum Mol Genet. 2006 Mar 1;15(5):679-89. doi: 10.1093/hmg/ddi482. Epub 2006 Jan 13. Hum Mol Genet. 2006. PMID: 16415040

10

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.

Salewsky B, Hildebrand G, Rothe S, Parplys AC, Radszewski J, Kieslich M, Wessendorf P, Krenzlin H, Borgmann K, Nussenzweig A, Sperling K, Digweed M. Salewsky B, et al. Among authors: sperling k. Mol Ther. 2016 Feb;24(1):117-24. doi: 10.1038/mt.2015.144. Epub 2015 Aug 12. Mol Ther. 2016. PMID: 26265251 Free PMC article.

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