| 1 | ADA
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| Connecting p63 to cellular proliferation: the example of the adenosine deaminase target gene.
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| Sbisa E, Mastropasqua G, Lefkimmiatis K, Caratozzolo MF, D'Erchia AM, Tullo A.
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| Cell Cycle 5(2):205-12. Epub 2006 Jan 16. 2006
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| 2 | ADA, DPP4
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| CD26, adenosine deaminase, and adenosine receptors mediate costimulatory signals in the immunological synapse.
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| Pacheco R, Martinez-Navio JM, Lejeune M, Climent N, Oliva H, Gatell JM, Gallart T, Mallol J, Lluis C, Franco R.
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| Proc Natl Acad Sci U S A 102(27):9583-8. Epub 2005 Jun 27. 2005
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| 3 | ADA, ADA2
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| Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.
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| Zavialov AV, Engstrom A.
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| Biochem J 391(Pt 1):51-7. 2005
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| 4 | ADA
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| The role of adenosine-related genes variants in susceptibility to essential hypertension.
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| Wright K, Tajouri L, Lea RA, Ovcaric M, Heux S, Morin F, Bey W, Headrick JP, Griffiths LR.
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| J Hypertens 22(8):1519-22. 2004
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| 5 | ADA
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| Adenosine deaminase deficiency : genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
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| Arredondo-Vega FX, et al.
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| Am J Hum Genet 63 : 1049-1059. 1998
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| 6 | ADA
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| Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
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| Hirschhorn R, Borkowsky W, Jiang CK, Yang DR, Jenkins T.
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| Hum Genet 100(1):22-9. 1997
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| 7 | ADA
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| An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
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| Jiang C, Hong R, Horowitz SD, Kong X, Hirschhorn R.
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| Hum Mol Genet 6(13):2271-8. 1997
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| 8 | ADA
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| Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
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| Hirshhorn R, et al.
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| Nat Genet 13 : 290-295. 1996
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| 9 | ADA
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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.
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| Santisteban I, et al.
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| Hum Mol Genet 4 : 2081-2087. 1995
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| 10 | ADA
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| Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
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| Santisteban I, et al.
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| Hum Mutat 5 : 243-250. 1995
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| 11 | ADA
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| An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme) : occurrence on different chromosomal backgrounds and apparent intragenic crossover.
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| Hirschhorn R, et al.
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| Ann Hum Genet 58 : 1-9. 1994
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| 12 | ADA
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| Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
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| Yang DR, et al.
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| Clin Immunol Immunopathol 70 : 171-175. 1994
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| 13 | ADA
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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.
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| Arredondo-Vega FX, et al.
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| Am J Hum Genet 54 : 820-830. 1994
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| 14 | ADA
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| Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
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| Hirschhorn R, et al.
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| Am J Hum Genet 55 : 59-68. 1994
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| 15 | MODY1, ADA, CTSA
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| A genetic map of chromosome 20q12-q13.1 : multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus.
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| Rothschild CB, et al.
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| Am J Hum Genet 52 : 110-123. 1993
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| 16 | ADA
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| Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease.
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| Santisteban I, et al.
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| J Clin Invest 92 : 2291-2302. 1993
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| 17 | ADA
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| A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.
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| Atasoy U, et al.
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| Hum Mol Genet 2 : 1307-1308. 1993
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| 18 | ADA
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| Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.
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| Hirschhorn R, et al.
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| Hum Mutat 2 : 320-323. 1993
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| 19 | ADA
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| A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.
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| Gossage DL, et al.
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| Hum Mol Genet 2 : 1493-1494. 1993
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| 20 | ADA
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| 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).
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| Hirschhorn R, et al.
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| Am J Med Genet 42 : 201-207. 1992
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| 21 | ADA
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| An STS in the human adenosine deaminase gene (located 20q12-q13.11).
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| Freeman BC, et al.
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| Nucleic Acids Res 19 : 5084. 1991
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| 22 | ADA
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| Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
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| Hirschhorn R, et al.
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| Am J Hum Genet 49 : 878-885. 1991
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| 23 | ADA
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| Detection of PstI RFLP in human ADA by the polymerase chain reaction.
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| Ikegami H, et al.
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| Nucleic Acids Res 19 : 5448. 1991
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| 24 | ADA
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| Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA.
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| Kashii S, et al.
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| J Cell Biochem 47 : 49-53. 1991
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| 25 | ADA, HBBP1
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| The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.
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| Economou EP, et al.
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| Proc Natl Acad Sci U S A 87 : 2951-2954. 1990
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| 26 | ADA
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| Hot spot mutations in adenosine deaminase deficiency.
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| Hirschhorn R, et al.
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| Proc Natl Acad Sci U S A 87 : 6171-6175. 1990
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| 27 | ADA
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| Identical 3250-Bp deletion between 2 Alu1 repeats in the ADA genes of unrelated ADA-SCID patients.
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| Berkvens TM, et al.
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| Genomics 7 : 486-490. 1990
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| 28 | ADA
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| Identification of an ApaI polymorphism within the human adenosine deaminase (ADA) gene.
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| Gribbin T, et al.
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| Nucleic Acids Res 17 : 3626. 1989
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| 29 | ADA
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| Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
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| Tzall S, Ellenbogen A, Eng F, Hirschhorn R.
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| Am J Hum Genet 44 : 864-875. 1989
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| 30 | ADA
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| Localization of human adenosine deaminase (ADA) gene sequences to the q12-q13.11 region of chromosome 20 by in situ hybridization.
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| Jhanwar SC, et al.
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| Cytogenet Cell Genet 50 : 168-171. 1989
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| 31 | ADA
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| A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.
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| Markert ML, et al.
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| Am J Hum Genet 45 : 354-361. 1989
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| 32 | ADA
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| In situ localisation of human ADA to chromosome 20q12-q13.11 region.
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| Jhanwar SC, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 634. 1987
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| 33 | ADA
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| Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.
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| Akeson AL, et al.
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| Proc Natl Acad Sci U S A 84 : 5947-5951. 1987
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| 34 | ADA
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| New assignment of the adenosine deaminase gene locus to chromosome 20q13.11 by study of a patient with interstitial deletion 20q.
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| Petersen MB, et al.
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| J Med Genet 24 : 93-96. 1987
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| 35 | ADA
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| Segregation of a t(3.20) translocation through three generations resulting in unbalanced karyotypes in six persons.
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| Nielsen KB, et al.
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| J Med Genet 23 : 446-451. 1986
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| 36 | ADA
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| Regional assignment of the ADA locus on 20q13.2-qter by gene dosage studies.
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| Philip T, et al.
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| Cytogenet Cell Genet 27 : 187-189. 1980
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| 37 | ITPA, ADA
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| Regional mapping of ADA and ITP on human chromosome 20 utilizing an X/20 translocation in somatic cell hybrids.
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| Mohandas T, et al.
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| Cytogenet Cell Genet 25 : 187. 1979
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| 38 | ADA
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| Quantitative studies of ADA in a case of del(20)(q13.2-qter): gene localization on the deleted fragment.
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| Fraisse J, et al.
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| Cytogenet Cell Genet 25 : 154. 1979
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| 39 | ADA
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| Investigation of the intrachromosomal position of the ADA locus on chromosome 20 by gene dosage studies.
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| Aitken DA, et al.
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| Cytogenet Cell Genet 22 : 514-517. 1978
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| 40 | ADA
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| Assignment of a gene for adenosine deaminase to human chomosome 20.
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| Tischfield JA, et al.
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| Hum Hered 24 : 1-11. 1974
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| 41 | ADA
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| Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.
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| Giblett ER, et al.
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| Lancet I : 1067-1069. 1972
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