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Evolving Spectrum of Adenosine Deaminase Deficiency: Assessing Genotype Pathogenicity Based on Expressed ADA Activity of 46 Variants

Journal of allergy and clinical immunology, 2024-08

2024

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Clustered Charged Amino Acids of Human Adenosine Deaminase Comprise a Functional Epitope for Binding the Adenosine Deaminase Complexing Protein CD26/Dipeptidyl Peptidase IV

The Journal of biological chemistry, 2002-05, Vol.277 (22), p.19720-19726

2002

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Cell Surface Adenosine Deaminase Binds and Stimulates Plasminogen Activation on 1-LN Human Prostate Cancer Cells

The Journal of biological chemistry, 2004-05, Vol.279 (20), p.20993-20998

2004

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

Blood, 2002-02, Vol.99 (3), p.1005-1013

2002

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Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency

The New England journal of medicine, 1996-05, Vol.334 (21), p.1367-1371

1996

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Hepatic Dysfunction as a Complication of Adenosine Deaminase Deficiency

The New England journal of medicine, 1996-05, Vol.334 (21), p.1367-1372

1996

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E. coli expression system for identifying folding mutations of human adenosine deaminase

Methods in molecular biology (Clifton, N.J.), 2003, Vol.232, p.175

2003

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Molecular Basis for Paradoxical Carriers of Adenosine Deaminase (ADA) Deficiency That Show Extremely Low Levels of ADA Activity in Peripheral Blood Cells Without Immunodeficiency

The Journal of immunology (1950), 2001-02, Vol.166 (3), p.1698-1702

2001

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The Binding Site of Human Adenosine Deaminase for Cd26/Dipeptidyl Peptidase IV

The Journal of experimental medicine, 2000-11, Vol.192 (9), p.1223-1236

2000

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Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles

American journal of human genetics, 1998-10, Vol.63 (4), p.1049-1059

1998

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A case‐study of fucoxanthin uptake kinetics

The FASEB journal, 2009-04, Vol.23 (S1)

2009

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The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency

The Journal of experimental medicine, 2000-11, Vol.192 (9), p.1223-1236

2000

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Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5′ splice site

Human mutation, 1995, Vol.5 (3), p.243-250

1995

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Adenosine deaminase deficiency in adults

Blood, 1997-04, Vol.89 (8), p.2849-2855

1997

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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

Human molecular genetics, 1995-11, Vol.4 (11), p.2081-2087

1995

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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

The Journal of clinical investigation, 1993-11, Vol.92 (5), p.2291-2302

1993

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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

American journal of human genetics, 1994-05, Vol.54 (5), p.820-830

1994

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711 REGIONAL CHROMOSOMAL ASSIGNMENT OF THE STRUCTURAL GENE FOR HUMAN ACID β-GLUCOSIDASE

Pediatric research, 1981-04, Vol.15, p.560-560

1981

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Regional Gene Assignment of Human Porphobilinogen Deaminase and Esterase A4to Chromosome 11q23→ 11qter

Proceedings of the National Academy of Sciences - PNAS, 1981-09, Vol.78 (9), p.5734-5738

1981

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770 REGIONAL ASSIGNMENT OF HUMAN PBG-DEAMINASE (PBGD) AND ESTERASE A4 (ESA4) TO 11q23 11qter

Pediatric research, 1981-04, Vol.15, p.570-570

1981

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Evolving Spectrum of Adenosine Deaminase Deficiency: Assessing Genotype Pathogenicity Based on Expressed ADA Activity of 46 Variants

Clustered Charged Amino Acids of Human Adenosine Deaminase Comprise a Functional Epitope for Binding the Adenosine Deaminase Complexing Protein CD26/Dipeptidyl Peptidase IV

Cell Surface Adenosine Deaminase Binds and Stimulates Plasminogen Activation on 1-LN Human Prostate Cancer Cells

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

Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency

Hepatic Dysfunction as a Complication of Adenosine Deaminase Deficiency

E. coli expression system for identifying folding mutations of human adenosine deaminase

Molecular Basis for Paradoxical Carriers of Adenosine Deaminase (ADA) Deficiency That Show Extremely Low Levels of ADA Activity in Peripheral Blood Cells Without Immunodeficiency

The Binding Site of Human Adenosine Deaminase for Cd26/Dipeptidyl Peptidase IV

Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles

A case‐study of fucoxanthin uptake kinetics

The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency

Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5′ splice site

Adenosine deaminase deficiency in adults

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

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

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

711 REGIONAL CHROMOSOMAL ASSIGNMENT OF THE STRUCTURAL GENE FOR HUMAN ACID β-GLUCOSIDASE

Regional Gene Assignment of Human Porphobilinogen Deaminase and Esterase A4to Chromosome 11q23→ 11qter

770 REGIONAL ASSIGNMENT OF HUMAN PBG-DEAMINASE (PBGD) AND ESTERASE A4 (ESA4) TO 11q23 11qter

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