PubMed (OMIM) for id: 8063

Year	Number of Results
1988	4
1989	1
1990	1
1992	1
1994	1
1995	1
1998	5
1999	5
2000	12
2001	6
2002	10
2003	1
2004	6
2005	5
2024	0

1

Mesoscale conformational changes in the DNA-repair complex Rad50/Mre11/Nbs1 upon binding DNA.

Moreno-Herrero F, de Jager M, Dekker NH, Kanaar R, Wyman C, Dekker C. Moreno-Herrero F, et al. Nature. 2005 Sep 15;437(7057):440-3. doi: 10.1038/nature03927. Nature. 2005. PMID: 16163361

2

An essential function for NBS1 in the prevention of ataxia and cerebellar defects.

Frappart PO, Tong WM, Demuth I, Radovanovic I, Herceg Z, Aguzzi A, Digweed M, Wang ZQ. Frappart PO, et al. Nat Med. 2005 May;11(5):538-44. doi: 10.1038/nm1228. Epub 2005 Apr 10. Nat Med. 2005. PMID: 15821748

3

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS. Yamaguchi H, et al. N Engl J Med. 2005 Apr 7;352(14):1413-24. doi: 10.1056/NEJMoa042980. N Engl J Med. 2005. PMID: 15814878 Free article.

4

A proportion of patients with lymphoma may harbor mutations of the perforin gene.

Clementi R, Locatelli F, Dupré L, Garaventa A, Emmi L, Bregni M, Cefalo G, Moretta A, Danesino C, Comis M, Pession A, Ramenghi U, Maccario R, Aricò M, Roncarolo MG. Clementi R, et al. Blood. 2005 Jun 1;105(11):4424-8. doi: 10.1182/blood-2004-04-1477. Epub 2005 Feb 22. Blood. 2005. PMID: 15728124 Free article.

5

Autoimmune lymphoproliferative syndrome and perforin.

Rieux-Laucat F, Le Deist F, De Saint Basile G. Rieux-Laucat F, et al. N Engl J Med. 2005 Jan 20;352(3):306-7; author reply 306-7. doi: 10.1056/NEJM200501203520319. N Engl J Med. 2005. PMID: 15659737 No abstract available.

6

Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.

Clementi R, Dagna L, Dianzani U, Dupré L, Dianzani I, Ponzoni M, Cometa A, Chiocchetti A, Sabbadini MG, Rugarli C, Ciceri F, Maccario R, Locatelli F, Danesino C, Ferrarini M, Bregni M. Clementi R, et al. N Engl J Med. 2004 Sep 30;351(14):1419-24. doi: 10.1056/NEJMoa041432. N Engl J Med. 2004. PMID: 15459303 Free article.

7

The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene.

Voskoboinik I, Thia MC, De Bono A, Browne K, Cretney E, Jackson JT, Darcy PK, Jane SM, Smyth MJ, Trapani JA. Voskoboinik I, et al. J Exp Med. 2004 Sep 20;200(6):811-6. doi: 10.1084/jem.20040776. Epub 2004 Sep 14. J Exp Med. 2004. PMID: 15365097 Free PMC article.

8

First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.

Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M. Shimada H, et al. Hum Genet. 2004 Oct;115(5):372-6. doi: 10.1007/s00439-004-1155-1. Epub 2004 Aug 24. Hum Genet. 2004. PMID: 15338273

9

Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.

Dufour C, Capasso M, Svahn J, Marrone A, Haupt R, Bacigalupo A, Giordani L, Longoni D, Pillon M, Pistorio A, Di Michele P, Iori AP, Pongiglione C, Lanciotti M, Iolascon A; Associazione Italiana di Emato-Oncologia Pediatrica (AIEOP); Department of Hematology, Ospedale S. Martino, Genoa, Italy. Dufour C, et al. Br J Haematol. 2004 Sep;126(5):682-5. doi: 10.1111/j.1365-2141.2004.05102.x. Br J Haematol. 2004. PMID: 15327519 Free article.

10

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.

Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH. Molleran Lee S, et al. J Med Genet. 2004 Feb;41(2):137-44. doi: 10.1136/jmg.2003.011528. J Med Genet. 2004. PMID: 14757862 Free PMC article. No abstract available.

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