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Items: 1 to 20 of 137

2.
3.

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
4.
5.
6.

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.

7.

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.

Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE.

Nat Genet. 1996 Jul;13(3):290-5.

PMID:
8673127
8.

Autism: evidence of association with adenosine deaminase genetic polymorphism.

Bottini N, De Luca D, Saccucci P, Fiumara A, Elia M, Porfirio MC, Lucarelli P, Curatolo P.

Neurogenetics. 2001 Mar;3(2):111-3.

PMID:
11354825
10.

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.

11.

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.

12.

Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.

Shovlin CL, Simmonds HA, Fairbanks LD, Deacock SJ, Hughes JM, Lechler RI, Webster AD, Sun XM, Webb JC, Soutar AK.

J Immunol. 1994 Sep 1;153(5):2331-9.

PMID:
8051429
14.

A point mutation in the 5' splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA.

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

J Cell Biochem. 1993 Mar;51(3):322-5.

PMID:
8501134
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.

Molecular basis of adenosine deaminase deficiency.

Markert ML.

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

PMID:
8032366
17.

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Hershfield MS.

Curr Opin Immunol. 2003 Oct;15(5):571-7. Review.

PMID:
14499267
18.

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.

19.

ADA*2 allele of the adenosine deaminase gene may protect against coronary artery disease.

Safranow K, Rzeuski R, Binczak-Kuleta A, Czyzycka E, Skowronek J, Jakubowska K, Wojtarowicz A, Loniewska B, Ciechanowicz A, Kornacewicz-Jach Z, Chlubek D.

Cardiology. 2007;108(4):275-81. Epub 2007 Feb 8.

PMID:
17287605
20.

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, Lawton A, Sorensen RU, Stiehm ER, Uribe L, et al.

J Clin Invest. 1993 Nov;92(5):2291-302.

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