207 related articles for article (PubMed ID: 8023852)
1. Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
Hirschhorn R; Yang DR; Israni A; Huie ML; Ownby DR
Am J Hum Genet; 1994 Jul; 55(1):59-68. PubMed ID: 8023852
[TBL] [Abstract][Full Text] [Related]
2. Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.
Arredondo-Vega FX; Santisteban I; Kelly S; Schlossman CM; Umetsu DT; Hershfield MS
Am J Hum Genet; 1994 May; 54(5):820-30. PubMed ID: 8178821
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 8673127
[TBL] [Abstract][Full Text] [Related]
4. 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; 99(3):1005-13. PubMed ID: 11807006
[TBL] [Abstract][Full Text] [Related]
5. Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency.
Hirschhorn R; Nicknam MN; Eng F; Yang DR; Borkowsky W
J Immunol; 1992 Nov; 149(9):3107-12. PubMed ID: 1401934
[TBL] [Abstract][Full Text] [Related]
6. Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).
Hirschhorn R; Yang DR; Insel RA; Ballow M
Cell Immunol; 1993 Dec; 152(2):383-93. PubMed ID: 8258146
[TBL] [Abstract][Full Text] [Related]
7. Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.
Moncada-Vélez M; Vélez-Ortega A; Orrego J; Santisteban I; Jagadeesh J; Olivares M; Olaya N; Hershfield M; Candotti F; Franco J
Scand J Immunol; 2011 Nov; 74(5):471-81. PubMed ID: 21671975
[TBL] [Abstract][Full Text] [Related]
8. An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
Jiang C; Hong R; Horowitz SD; Kong X; Hirschhorn R
Hum Mol Genet; 1997 Dec; 6(13):2271-8. PubMed ID: 9361033
[TBL] [Abstract][Full Text] [Related]
9. 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
J Clin Invest; 1993 Nov; 92(5):2291-302. PubMed ID: 8227344
[TBL] [Abstract][Full Text] [Related]
10. Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
Yang DR; Huie ML; Hirschhorn R
Clin Immunol Immunopathol; 1994 Feb; 70(2):171-5. PubMed ID: 8299233
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 8501134
[TBL] [Abstract][Full Text] [Related]
12. 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
Hum Mol Genet; 1995 Nov; 4(11):2081-7. PubMed ID: 8589684
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 3475710
[TBL] [Abstract][Full Text] [Related]
14. Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
Hirschhorn R; Borkowsky W; Jiang CK; Yang DR; Jenkins T
Hum Genet; 1997 Jul; 100(1):22-9. PubMed ID: 9225964
[TBL] [Abstract][Full Text] [Related]
15. Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
Hershfield MS
Curr Opin Immunol; 2003 Oct; 15(5):571-7. PubMed ID: 14499267
[TBL] [Abstract][Full Text] [Related]
16. Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).
Hirschhorn R; Ellenbogen A; Tzall S
Am J Med Genet; 1992 Jan; 42(2):201-7. PubMed ID: 1346349
[TBL] [Abstract][Full Text] [Related]
17. 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; 166(3):1698-702. PubMed ID: 11160213
[TBL] [Abstract][Full Text] [Related]
18. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX; Santisteban I; Daniels S; Toutain S; Hershfield MS
Am J Hum Genet; 1998 Oct; 63(4):1049-59. PubMed ID: 9758612
[TBL] [Abstract][Full Text] [Related]
19. ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D; Gur Cetinkaya P; Karaatmaca B; Esenboga S; Tan C; Yılmaz T; Gümüş E; Barış S; Kuşkonmaz B; Ozgur TT; Bali P; Santisteban I; Orhan D; Yüce A; Cetinkaya D; Boztug K; Hershfield M; Sanal O; Tezcan İ
J Clin Immunol; 2018 May; 38(4):484-493. PubMed ID: 29744787
[TBL] [Abstract][Full Text] [Related]
20. Molecular basis of adenosine deaminase deficiency.
Markert ML
Immunodeficiency; 1994; 5(2):141-57. PubMed ID: 8032366
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
