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Items: 1 to 20 of 106

1.

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.

Markiewicz S, Subtil A, Dautry-Varsat A, Fischer A, de Saint Basile G.

Genomics. 1994 May 1;21(1):291-3. No abstract available.

PMID:
8088810
2.

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

Puck JM, DeschĂȘnes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS.

Hum Mol Genet. 1993 Aug;2(8):1099-104.

PMID:
8401490
3.

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.

DiSanto JP, Rieux-Laucat F, Dautry-Varsat A, Fischer A, de Saint Basile G.

Proc Natl Acad Sci U S A. 1994 Sep 27;91(20):9466-70.

4.

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.

DiSanto JP, Dautry-Varsat A, Certain S, Fischer A, de Saint Basile G.

Eur J Immunol. 1994 Feb;24(2):475-9.

PMID:
8299698
5.

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH.

Blood. 1997 Mar 15;89(6):1968-77.

6.
7.

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.

Urlaub G, Mitchell PJ, Ciudad CJ, Chasin LA.

Mol Cell Biol. 1989 Jul;9(7):2868-80.

8.

A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.

Atasoy U, Norby-Slycord CJ, Markert ML.

Hum Mol Genet. 1993 Aug;2(8):1307-8. No abstract available.

PMID:
7691348
9.

B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.

Jones AM, Clark PA, Katz F, Genet S, McMahon C, Alterman L, Cant A, Kinnon C.

Hum Genet. 1997 May;99(5):677-80.

PMID:
9150740
10.

A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.

Kanai N, Yanai F, Hirose S, Nibu K, Izuhara K, Tani T, Kubota T, Mitsudome A.

Hum Genet. 1999 Jan;104(1):36-42. Erratum in: Hum Genet 1999 Feb;104(2):196.

PMID:
10071190
11.

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.

Tassara C, Pepper AE, Puck JM.

Hum Mol Genet. 1995 Sep;4(9):1693-5. No abstract available.

PMID:
8541866
12.

Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: interleukin-15 binds to the B cells but is not internalized efficiently.

Kumaki S, Ochs HD, Timour M, Schooley K, Ahdieh M, Hill H, Sugamura K, Anderson D, Zhu Q, Cosman D, et al.

Blood. 1995 Aug 15;86(4):1428-36.

13.

Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).

Wengler GS, Giliani S, Fiorini M, Mella P, Mantuano E, Zanola A, Pollonini G, Eibl MM, Ugazio AG, Notarangelo LD, Parolini O.

Br J Haematol. 1998 Jun;101(3):586-91.

PMID:
9633906
14.
15.

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Liu HX, Cartegni L, Zhang MQ, Krainer AR.

Nat Genet. 2001 Jan;27(1):55-8.

PMID:
11137998
16.
17.

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.

Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ.

Cell. 1993 Apr 9;73(1):147-57.

PMID:
8462096
18.

Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

Ishii N, Asao H, Kimura Y, Takeshita T, Nakamura M, Tsuchiya S, Konno T, Maeda M, Uchiyama T, Sugamura K.

J Immunol. 1994 Aug 1;153(3):1310-7.

PMID:
8027558
19.

A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease.

Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS.

Vet Immunol Immunopathol. 1995 Aug;47(3-4):203-13.

PMID:
8571541
20.

Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency.

Cohen L, Hirschfeld AF, Junker AK, Davis J, Turvey SE.

Ann Allergy Asthma Immunol. 2006 Apr;96(4):632. No abstract available.

PMID:
16680939

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