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Items: 1 to 20 of 170

1.

Normal and mutant human adenosine deaminase genes.

Akeson AL, Wiginton DA, Hutton JJ.

J Cell Biochem. 1989 Mar;39(3):217-28. Review.

PMID:
2651461
2.

Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.

Akeson AL, Wiginton DA, Dusing MR, States JC, Hutton JJ.

J Biol Chem. 1988 Nov 5;263(31):16291-6.

3.

Molecular biology of the adenosine deaminase gene and messenger RNA.

Hutton JJ, Wiginton DA.

Ann N Y Acad Sci. 1985;451:227-37.

PMID:
3865573
4.

Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA.

Kashii S, Ito K, Monden S, Sasai Y, Tsuchida K, Fujita M, Kawamoto H, Norioka M, Okuma M.

J Cell Biochem. 1991 Sep;47(1):49-53.

PMID:
1939366
5.

Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

Valerio D, Duyvesteyn MG, van Ormondt H, Meera Khan P, van der Eb AJ.

Nucleic Acids Res. 1984 Jan 25;12(2):1015-24.

6.
7.

Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.

Akeson AL, Wiginton DA, States JC, Perme CM, Dusing MR, Hutton JJ.

Proc Natl Acad Sci U S A. 1987 Aug;84(16):5947-51.

8.
9.

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

Valerio D, Dekker BM, Duyvesteyn MG, van der Voorn L, Berkvens TM, van Ormondt H, van der Eb AJ.

EMBO J. 1986 Jan;5(1):113-9.

10.

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

Ariga T, Oda N, Sanstisteban I, Arredondo-Vega FX, Shioda M, Ueno H, Terada K, Kobayashi K, Hershfield MS, Sakiyama Y.

J Immunol. 2001 Feb 1;166(3):1698-702.

11.

Genetic expression of adenosine deaminase in human lymphoid malignancies.

Gan TE, Dadonna PE, Mitchell BS.

Blood. 1987 May;69(5):1376-80.

12.

Molecular basis of adenosine deaminase deficiency.

Markert ML.

Immunodeficiency. 1994;5(2):141-57. Review.

PMID:
8032366
13.

Correction of adenosine deaminase deficiency in cultured human T and B cells by retrovirus-mediated gene transfer.

Kantoff PW, Kohn DB, Mitsuya H, Armentano D, Sieberg M, Zwiebel JA, Eglitis MA, McLachlin JR, Wiginton DA, Hutton JJ, et al.

Proc Natl Acad Sci U S A. 1986 Sep;83(17):6563-7.

15.

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

Bonthron DT, Markham AF, Ginsburg D, Orkin SH.

J Clin Invest. 1985 Aug;76(2):894-7.

16.

Erythrocyte-specific overproduction of adenosine deaminase: molecular genetic studies.

Chottiner EG, Gribbin TE, Ginsburg D, Mitchell BS.

Prog Clin Biol Res. 1989;319:55-64; discussion 65-8.

PMID:
2622927
17.

Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.

Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, Al-Ghonaium A, Al-Helali M, Hershfield MS.

Blood. 2002 Feb 1;99(3):1005-13.

18.

Isolation and characterization of S49 mouse lymphoma cell mutants deficient in adenosine deaminase.

Chan TS, Huang C, Sato T.

Somat Cell Mol Genet. 1989 Sep;15(5):411-20.

PMID:
2789437
20.

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML, et al.

Hum Mol Genet. 1995 Nov;4(11):2081-7.

PMID:
8589684

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