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