JCI - Citations to Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

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Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

M L Markert, … , J C States, R E Kaufman

M L Markert, … , J C States, R E Kaufman

Published May 1, 1988
Citation Information: J Clin Invest. 1988;81(5):1323-1327. https://doi.org/10.1172/JCI113458.

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Citations to this article (73)

Title and authors	Publication	Year
Aftermath of the Human Genome Project: an era of struggle and discovery Z HAMDOUN, H EHSAN	TURK J BIOL	2017
Gene Therapy S Nimesh	Gene Therapy	2013
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion LR Shiow, K Paris, MC Akana, JG Cyster, RU Sorensen, JM Puck	Clinical Immunology	2009
Gene discovery at the human T-cell receptor α/δ locus MR Haynes, GE Wu	Immunogenetics	2006
Linkage disequilibrium analysis of the human adenosine deaminase (ada) gene provides evidence for a lack of correlation between hot spots of equal and unequal homologous recombination F Cruciani, L Bernardini, P Santolamazza, D Modiano, A Torroni, R Scozzari	Genomics	2003
The role ofAlu repeat clusters as mediators of recurrent chromosomal aberrations in tumors E Kolomietz, MS Meyn, A Pandita, JA Squire	Genes, Chromosomes and Cancer	2002
The evolution and formation of RH genes H Okuda, E Kajii	Legal Medicine	2002
Carbon Monoxide and Cardiovascular Functions R Johnson, F Johnson	Carbon Monoxide and Cardiovascular Functions	2001
The Analysis of Nucleotide Substitutions, Gaps, and Recombination Events between RHD and RHCE Genes through Complete Sequencing H Okuda, H Suganuma, T Kamesaki, M Kumada, N Tsudo, T Omi, S Iwamoto, E Kajii	Biochemical and Biophysical Research Communications	2000
Sequence Analysis of the Spacer Region between the RHD and RHCE Genes H Okuda, H Suganuma, N Tsudo, T Omi, S Iwamoto, E Kajii	Biochemical and Biophysical Research Communications	1999
Alu Repeats and Human Disease PL Deininger, MA Batzer	Molecular Genetics and Metabolism	1999
HIV and the New Viruses S McAdam, F Gotch	HIV and the New Viruses	1999
Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles FX Arredondo-Vega, I Santisteban, S Daniels, S Toutain, MS Hershfield	The American Journal of Human Genetics	1998
Structure and Transcription Regulation of the Human Insulin-like Growth Factor Binding Protein 4 Gene (IGFBP4) H Zazzi, A Nikoshkov, K Hall, H Luthman	Genomics	1998
The partial tandem duplication of ALL1 (MLL) is consistently generated by Alu-mediated homologous recombination in acute myeloid leukemia MP Strout, G Marcucci, CD Bloomfield, MA Caligiuri	Proceedings of the National Academy of Sciences	1998
Isolation of an Alu repetitive DNA binding protein and effect of CpG methylation on binding to its recognition sequence GS Cox, DW Gutkin, MJ Haas, DE Cosgrove	Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression	1998
Identification of complex genomic breakpoint junctions in the t(9;11)MLL-AF9 fusion gene in acute leukemia HG Super, PL Strissel, OM Sobulo, D Burian, SC Reshmi, B Roe, NJ Zeleznik-Le, MO Diaz, JD Rowley	Genes, Chromosomes and Cancer	1997
Study of Alu sequences at the hypoxanthine phosphoribosyltransferase (hprt) encoding region of man PJ Renwick, AJ Birley, MA Hultén	Gene	1997
A recombination hot spot in the Rh genes revealed by analysis of unrelated donors with the rare D-- phenotype TJ Kemp, M Poulter, B Carritt	The American Journal of Human Genetics	1996
Winner of the Theodore E. Woodward Award: c-Myb and the coordinate regulation of thymic genes JJ Hutton, KC Ess, DP Witte, BJ Aronow	Transactions of the American Clinical and Climatological Association	1996
Mobile genetic elements in mutagenic process, recombination and malignization of human cells LL Lukash, LP Shvachko, KV Kostetskaya	Biopolymers and Cell	1996
Adenosine–deaminase–deficient mice die perinatally and exhibit liver–cell degeneration, atelectasis and small intestinal cell death AA Migchielsen, ML Breuer, MA van Roon, H Riele, C Zurcher, F Ossendorp, S Toutain, MS Hershfield, A Berns, D Valerio	Nature Genetics	1995
Adenosine deaminase deficiency: molecular basis and recent developments R Hirschhorn	Clinical Immunology and Immunopathology	1995
Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences S Tomatsu, S Fukuda, A Cooper, JE Wraith, A Uchiyama, T Hori, Y Nakashima, N Yamada, K Sukegawa, N Kondo, Y Suzuki, N Shimozawa, T Orii	Human Genetics	1995
Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency DT Umetsu, CM Schlossman, HD Ochs, MS Hershfield	Journal of Allergy and Clinical Immunology	1994
An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover R Hirschhorn, DR Yang, A Israni	Annals of Human Genetics	1994
A point mutation in the 5′ splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA H Kawamoto, K Ito, S Kashii, S Monden, M Fujita, M Norioka, Y Sasai, M Okuma	Journal of Cellular Biochemistry	1993
Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia L Li, PF Bray	The American Journal of Human Genetics	1993
Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts T Morris, J Thacker	Proceedings of the National Academy of Sciences	1993
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta DH Cohn, X Zhang, PH Byers	Human Mutation	1993
Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia RJ Olds, DA Lane, V Chowdhury, VD Stefano, G Leone, SL Thein	Biochemistry	1993
The Retroviridae JA Levy		1993
Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome S Marcus, D Hellgren, B Lambert, SP Fllstrm, J Wahlstrm	Human Genetics	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) R Hirschhorn, A Ellenbogen, S Tzall	American Journal of Medical Genetics	1992
Partial gene duplication as a cause of human disease X Hu, RG Worton	Human Mutation	1992
Human Erythrocyte Glycophorins: Protein and Gene Structure Analyses JP Cartron, C Rahuel	Transfusion Medicine Reviews	1992
Homozygous hereditary C3 deficiency due to a partial gene deletion M Botto, KY Fong, AK So, R Barlow, R Routier, BJ Morley, MJ Walport	Proceedings of the National Academy of Sciences	1992
Insertion of the B2 sequence into intron 13 is the only defect of the H-2k C4 gene which causes low C4 production JH Zheng, S Natsuume-Sakai, M Takahashi, M Nonaka	Nucleic Acids Research	1992
Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions RJ Monnat, AF Hackmann, TA Chiaverotti	Genomics	1992
Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints LF Bernatowicz, XM Li, R Carrozzo, A Ballabio, T Mohandas, PH Yen, LJ Shapiro	Genomics	1992
Junctions between genes in the haptoglobin gene cluster of primates LM Erickson, HS Kim, N Maeda	Genomics	1992
Adenosine deaminase deficiency: a model system for human somatic cell gene correction therapy MA Vega	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	1992
Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA S Kashii, K Ito, S Monden, Y Sasai, K Tsuchida, M Fujita, H Kawamoto, M Norioka, M Okuma	Journal of Cellular Biochemistry	1991
Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients D Stoppa-Lyonnet, C Duponchel, T Meo, J Laurent, PE Carter, M Arala-Chaves, JH Cohen, G Dewald, J Goetz, G Hauptmann	The American Journal of Human Genetics	1991
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) R Hirschhorn, V Chakravarti, J Puck, SD Douglas	The American Journal of Human Genetics	1991
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation GA Mitchell, D Labuda, G Fontaine, JM Saudubray, JP Bonnefont, S Lyonnet, LC Brody, G Steel, C Obie, D Valle	Proceedings of the National Academy of Sciences	1991
Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination XY Hu, PN Ray, RG Worton	The EMBO Journal	1991
Reconstruction and analysis of human alu genes J Jurka, A Milosavljevic	Journal of Molecular Evolution	1991
Severe combined immunodeficiency disease, adenosine deaminase deficiency and gene therapy R Parkman, EW Gelfand	Current Opinion in Immunology	1991
Nonhomologous recombination in the human genome: Deletions in the human factor VIII gene P Woods-Samuels, HH Kazazian, SE Antonarakis	Genomics	1991
International Review of Cytology RA Miller	International Review of Cytology	1991
Adenosine in the Nervous System HA Simmonds	Adenosine in the Nervous System	1991
A de novo Alu insertion results in neurofibromatosis type 1 MR Wallace, LB Andersen, AM Saulino, PE Gregory, TW Glover, FS Collins	Nature	1991
Transgenic rats: new animal models in hypertension research. Invited lecture D Ganten, K Lindpaintner, U Ganten, J Peters, F Zimmermann, M Bader, J Mullins	Hypertension	1991
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment M Krawczak, DN Cooper	Human Genetics	1991
Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency FX Arredondo-Vega, J Kurtzberg, S Chaffee, I Santisteban, E Reisner, MS Povey, MS Hershfield	Journal of Clinical Investigation	1990
Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene T Ariga, PE Carter, AE Davis	Genomics	1990
Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency P Sinnott, S Collier, C Costigan, PA Dyer, R Harris, T Strachan	Proceedings of the National Academy of Sciences	1990
A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences G Zuliani, HH Hobbs	The American Journal of Human Genetics	1990
Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements D Stoppa-Lyonnet, PE Carter, T Meo, M Tosi	Proceedings of the National Academy of Sciences	1990
Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA−SCID patients TM Berkvens, H Ormondt, EJ Gerritsen, PM Khan, AJ der Eb	Genomics	1990
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene R Kornreich, DF Bishop, RJ Desnick	The Journal of biological chemistry	1990
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene HS Bernstein, DF Bishop, KH Astrin, R Kornreich, CM Eng, H Sakuraba, RJ Desnick	Journal of Clinical Investigation	1989
Normal and mutant human adenosine deaminase genes AL Akeson, DA Wiginton, JJ Hutton	Journal of Cellular Biochemistry	1989
Primary deficiencies of B and T lymphocytes: molecular basis and clinical aspects CI Smith, L Hammarström	Current Opinion in Immunology	1989
A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution ML Markert, C Norby-Slycord, FE Ward	The American Journal of Human Genetics	1989
Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene S Canning, TP Dryja	Proceedings of the National Academy of Sciences	1989
Localization of preferential sites of rearrangement within the BCR gene in Philadelphia chromosome-positive acute lymphoblastic leukemia CT Denny, NP Shah, S Ogden, C Willman, T McConnell, W Crist, A Carroll, ON Witte	Proceedings of the National Academy of Sciences	1989
Sequence conservation in Alu evolution D Labuda, G Striker	Nucleic Acids Research	1989
Newly arisen DNA repeats in primate phylogeny SC Ryan, A Dugaiczyk	Proceedings of the National Academy of Sciences	1989
Restriction fragment length polymorphism caused by a deletion involving Alu sequences within the human .alpha.2-plasmin inhibitor gene O Miura, Y Sugahara, Y Nakamura, S Hirosawa, N Aoki	Biochemistry	1989
Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts AL Akeson, DA Wiginton, MR Dusing, JC States, JJ Hutton	The Journal of biological chemistry	1988
Progress in Immunology IH Lepow	Progress in Immunology	1971

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