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Results: 1 to 20 of 249

1.

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

Corneo B, Moshous D, Callebaut I, de Chasseval R, Fischer A, de Villartay JP.

J Biol Chem. 2000 Apr 28;275(17):12672-5.

PMID:
10777560
[PubMed - indexed for MEDLINE]
Free Article
2.

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.

Moshous D, Li L, Chasseval R, Philippe N, Jabado N, Cowan MJ, Fischer A, de Villartay JP.

Hum Mol Genet. 2000 Mar 1;9(4):583-8.

PMID:
10699181
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
11313270
[PubMed - indexed for MEDLINE]
Free Article
4.

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD.

J Clin Immunol. 1999 Mar;19(2):87-97. Review.

PMID:
10226883
[PubMed - indexed for MEDLINE]
5.

Signal joint formation is inhibited in murine scid preB cells and fibroblasts in substrates with homopolymeric coding ends.

Sun T, Ezekiel UR, Erskine L, Agulo R, Bozek G, Roth D, Storb U.

Mol Immunol. 1999 Jun;36(8):551-8.

PMID:
10475610
[PubMed - indexed for MEDLINE]
6.

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

Couëdel C, Roman C, Jones A, Vezzoni P, Villa A, Cortes P.

J Clin Invest. 2010 Apr;120(4):1337-44. doi: 10.1172/JCI41305. Epub 2010 Mar 15.

PMID:
20234091
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP.

Cell. 2001 Apr 20;105(2):177-86.

PMID:
11336668
[PubMed - indexed for MEDLINE]
Free Article
8.

Definition of minimal domains of interaction within the recombination-activating genes 1 and 2 recombinase complex.

Aidinis V, Dias DC, Gomez CA, Bhattacharyya D, Spanopoulou E, Santagata S.

J Immunol. 2000 Jun 1;164(11):5826-32.

PMID:
10820261
[PubMed - indexed for MEDLINE]
Free Article
9.

RAG1 and RAG2 in V(D)J recombination and transposition.

Fugmann SD.

Immunol Res. 2001;23(1):23-39. Review.

PMID:
11417858
[PubMed - indexed for MEDLINE]
10.

Catalytic RAG1 mutants obstruct V(D)J recombination in vitro and in vivo.

Furusawa T, Hosoe M, Ohkoshi K, Takahashi S, Kiyokawa N, Fujimoto J, Amemiya H, Suzuki S, Tokunaga T.

Mol Immunol. 2003 May;39(14):871-8.

PMID:
12686503
[PubMed - indexed for MEDLINE]
11.

An ionizing radiation-sensitive CHO mutant cell line: irs-20. IV. Genetic complementation, V(D)J recombination and the scid phenotype.

Lin JY, Mühlmann-Diaz MC, Stackhouse MA, Robinson JF, Taccioli GE, Chen DJ, Bedford JS.

Radiat Res. 1997 Feb;147(2):166-71.

PMID:
9008208
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

The roles of the RAG1 and RAG2 "non-core" regions in V(D)J recombination and lymphocyte development.

Jones JM, Simkus C.

Arch Immunol Ther Exp (Warsz). 2009 Mar-Apr;57(2):105-16. doi: 10.1007/s00005-009-0011-3. Epub 2009 Mar 31. Review.

PMID:
19333736
[PubMed - indexed for MEDLINE]
14.

The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.

Noordzij JG, de Bruin-Versteeg S, Verkaik NS, Vossen JM, de Groot R, Bernatowska E, Langerak AW, van Gent DC, van Dongen JJ.

Blood. 2002 Sep 15;100(6):2145-52.

PMID:
12200379
[PubMed - indexed for MEDLINE]
Free Article
15.

Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity.

Wiler R, Leber R, Moore BB, VanDyk LF, Perryman LE, Meek K.

Proc Natl Acad Sci U S A. 1995 Dec 5;92(25):11485-9.

PMID:
8524788
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Distinct roles of RAG1 and RAG2 in binding the V(D)J recombination signal sequences.

Akamatsu Y, Oettinger MA.

Mol Cell Biol. 1998 Aug;18(8):4670-8.

PMID:
9671477
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Cloning and characterization of the human recombination activating gene 1 (RAG1) and RAG2 promoter regions.

Zarrin AA, Fong I, Malkin L, Marsden PA, Berinstein NL.

J Immunol. 1997 Nov 1;159(9):4382-94.

PMID:
9379036
[PubMed - indexed for MEDLINE]
18.

A DNA repair defect in Chinese hamster ovary cells affects V(D)J recombination similarly to the murine scid mutation.

Taccioli GE, Cheng HL, Varghese AJ, Whitmore G, Alt FW.

J Biol Chem. 1994 Mar 11;269(10):7439-42.

PMID:
8125964
[PubMed - indexed for MEDLINE]
Free Article
19.

Altered topoisomerase I activity and recombination activating gene expression in a human leukemia cell line resistant to doxorubicin.

Riou JF, Grondard L, Petitgenet O, Abitbol M, Lavelle F.

Biochem Pharmacol. 1993 Sep 1;46(5):851-61.

PMID:
8396937
[PubMed - indexed for MEDLINE]
20.

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.

Gomez CA, Ptaszek LM, Villa A, Bozzi F, Sobacchi C, Brooks EG, Notarangelo LD, Spanopoulou E, Pan ZQ, Vezzoni P, Cortes P, Santagata S.

Mol Cell Biol. 2000 Aug;20(15):5653-64.

PMID:
10891502
[PubMed - indexed for MEDLINE]
Free PMC Article

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