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Results: 1 to 20 of 35

PubMed (cited) Links for OMIM (Select 179615)

1.

Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL.

Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20.

2.

The in vivo pattern of binding of RAG1 and RAG2 to antigen receptor loci.

Ji Y, Resch W, Corbett E, Yamane A, Casellas R, Schatz DG.

Cell. 2010 Apr 30;141(3):419-31. doi: 10.1016/j.cell.2010.03.010. Epub 2010 Apr 15. Erratum in: Cell. 2010 Oct 1;143(1):170.

3.

A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.

Xiao Z, Yannone SM, Dunn E, Cowan MJ.

Eur J Hum Genet. 2009 Feb;17(2):205-12. doi: 10.1038/ejhg.2008.150. Epub 2008 Aug 13.

4.

An immunodeficiency disease with RAG mutations and granulomas.

Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T.

N Engl J Med. 2008 May 8;358(19):2030-8. doi: 10.1056/NEJMoa073966.

5.

Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome.

Simkus C, Anand P, Bhattacharyya A, Jones JM.

J Immunol. 2007 Dec 15;179(12):8332-40.

6.

Rag mutations reveal robust alternative end joining.

Corneo B, Wendland RL, Deriano L, Cui X, Klein IA, Wong SY, Arnal S, Holub AJ, Weller GR, Pancake BA, Shah S, Brandt VL, Meek K, Roth DB.

Nature. 2007 Sep 27;449(7161):483-6.

PMID:
17898768
7.

Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model.

Khiong K, Murakami M, Kitabayashi C, Ueda N, Sawa S, Sakamoto A, Kotzin BL, Rozzo SJ, Ishihara K, Verella-Garcia M, Kappler J, Marrack P, Hirano T.

J Clin Invest. 2007 May;117(5):1270-81.

8.

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

de Villartay JP, Lim A, Al-Mousa H, Dupont S, Déchanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F.

J Clin Invest. 2005 Nov;115(11):3291-9.

9.

Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.

Tabori U, Mark Z, Amariglio N, Etzioni A, Golan H, Biloray B, Toren A, Rechavi G, Dalal I.

Clin Genet. 2004 Apr;65(4):322-6.

PMID:
15025726
10.

Target-selected inactivation of the zebrafish rag1 gene.

Wienholds E, Schulte-Merker S, Walderich B, Plasterk RH.

Science. 2002 Jul 5;297(5578):99-102.

12.

How the immune system works to protect the host from infection: a personal view.

Janeway CA Jr.

Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7461-8. Epub 2001 Jun 5. Review. No abstract available.

13.

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

Corneo B, Moshous D, Güngör T, Wulffraat N, Philippet P, Le Deist FL, Fischer A, de Villartay JP.

Blood. 2001 May 1;97(9):2772-6.

14.

Joining-deficient RAG1 mutants block V(D)J recombination in vivo and hairpin opening in vitro.

Yarnell Schultz H, Landree MA, Qiu JX, Kale SB, Roth DB.

Mol Cell. 2001 Jan;7(1):65-75.

15.

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K.

Blood. 2001 Jan 1;97(1):81-8.

16.

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A.

Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14572-7.

17.
18.

Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase.

Kim DR, Dai Y, Mundy CL, Yang W, Oettinger MA.

Genes Dev. 1999 Dec 1;13(23):3070-80.

20.

Coordinate regulation of RAG1 and RAG2 by cell type-specific DNA elements 5' of RAG2.

Yu W, Misulovin Z, Suh H, Hardy RR, Jankovic M, Yannoutsos N, Nussenzweig MC.

Science. 1999 Aug 13;285(5430):1080-4.

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