Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants
Santisteban, Ines, Arredondo-Vega, Francisco X., Bali, Pawan, Dalgic, Busra, Lee, Hyun Ho, Kim, Minsoo, Hermanson, Jake, Tarrant, Teresa K., Hershfield, Michael S.
Published in Journal of allergy and clinical immunology (23.08.2024)
Published in Journal of allergy and clinical immunology (23.08.2024)
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Journal Article
Clustered Charged Amino Acids of Human Adenosine Deaminase Comprise a Functional Epitope for Binding the Adenosine Deaminase Complexing Protein CD26/Dipeptidyl Peptidase IV
Richard, Eva, Alam, S. Munir, Arredondo-Vega, Francisco X., Patel, Dhavalkumar D., Hershfield, Michael S.
Published in The Journal of biological chemistry (31.05.2002)
Published in The Journal of biological chemistry (31.05.2002)
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Journal Article
Cell Surface Adenosine Deaminase Binds and Stimulates Plasminogen Activation on 1-LN Human Prostate Cancer Cells
Gonzalez-Gronow, Mario, Hershfield, Michael S., Arredondo-Vega, Francisco X., Pizzo, Salvatore V.
Published in The Journal of biological chemistry (14.05.2004)
Published in The Journal of biological chemistry (14.05.2004)
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Journal Article
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, Francisco X., Santisteban, Ines, Richard, Eva, Bali, Pawan, Koleilat, Majed, Loubser, Michael, Al-Ghonaium, Abdulaziz, Al-Helali, Mariam, Hershfield, Michael S.
Published in Blood (01.02.2002)
Published in Blood (01.02.2002)
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Journal Article
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, Tadashi, Oda, Noriko, Sanstisteban, Ines, Arredondo-Vega, Francisco X, Shioda, Mitsutaka, Ueno, Hideki, Terada, Kihei, Kobayashi, Kunihiko, Hershfield, Michael S, Sakiyama, Yukio
Published in The Journal of immunology (1950) (01.02.2001)
Published in The Journal of immunology (1950) (01.02.2001)
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Journal Article
4 Primary immunodeficiency mutation databases
Vihinen, Mauno, Arredondo-Vega, Francisco X, Casanova, Jean-Laurent, Etzioni, Amos, Giliani, Silvia, Hammarström, Lennart, Hershfield, Michael S, Heyworth, Paul G, Hsu, Amy P, Lähdesmäki, Aleksi, Lappalainen, Ilkka, Notarangelo, Luigi D, Puck, Jennifer M, Reith, Walter, Roos, Dirk, Schumacher, Richard F, Schwarz, Klaus, Vezzoni, Paolo, Villa, Anna, Väliaho, Jouni, Edvard Smith, C.I
Published in Advances in Genetics (2001)
Published in Advances in Genetics (2001)
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Book Chapter
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site
Santisteban, I, Arredondo-Vega, F X, Kelly, S, Debre, M, Fischer, A, Pérignon, J L, Hilman, B, elDahr, J, Dreyfus, D H, Gelfand, E W
Published in Human mutation (1995)
Published in Human mutation (1995)
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Journal Article
Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles
Arredondo-Vega, Francisco X., Santisteban, Ines, Daniels, Shannon, Toutain, Stephan, Hershfield, Michael S.
Published in American journal of human genetics (01.10.1998)
Published in American journal of human genetics (01.10.1998)
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Journal Article
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
Richard, E, Arredondo-Vega, F X, Santisteban, I, Kelly, S J, Patel, D D, Hershfield, M S
Published in The Journal of experimental medicine (06.11.2000)
Published in The Journal of experimental medicine (06.11.2000)
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Journal Article
Adenosine deaminase deficiency in adults
OZSAHIN, H, ARREDONDO-VEGA, F. X, SEGER, R. A, HERSHFIELD, M. S, SANTISTEBAN, I, FUHRER, H, TUCHSCHMID, P, JOCHUM, W, AGUZZI, A, LEDERMAN, H. M, FLEISCHMAN, A, WINKELSTEIN, J. A
Published in Blood (15.04.1997)
Published in Blood (15.04.1997)
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Journal Article
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, F. X, WEINBERG, K, HERSHFIELD, M. S, KELLY, S, MARY, A, FISCHER, A, HUMMELL, D. S, LAWTON, A, SORENSEN, R. U, STIEHM, E. R, URIBE, L
Published in The Journal of clinical investigation (01.11.1993)
Published in The Journal of clinical investigation (01.11.1993)
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Journal Article
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, F X, Kelly, S, Loubser, M, Meydan, N, Roifman, C, Howell, P L, Bowen, T, Weinberg, K I, Schroeder, M L
Published in Human molecular genetics (01.11.1995)
Published in Human molecular genetics (01.11.1995)
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Journal Article
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, F. X, SANTISTEBAN, I, KELLY, S, SCHLOSSMAN, C. M, UMETSU, D. T, HERSHFIELD, M. S
Published in American journal of human genetics (01.05.1994)
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Published in American journal of human genetics (01.05.1994)
Journal Article
Regional Gene Assignment of Human Porphobilinogen Deaminase and Esterase A4to Chromosome 11q23→ 11qter
Wang, Ai-Lan, Arredondo-Vega, Francisco X., Giampietro, Philip F., Smith, Moyra, Anderson, W. French, Desnick, Robert J.
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1981)
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Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1981)
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