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Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.

Y Hidaka, … , W N Kelley, T D Palella

Y Hidaka, … , W N Kelley, T D Palella

Published March 1, 1988
Citation Information: J Clin Invest. 1988;81(3):945-950. https://doi.org/10.1172/JCI113408.

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Citations to this article (52)

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Fighting Campylobacter Infections: Towards a One Health Approach S Backert		2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency HL Runolfsdottir, JA Sayer, OS Indridason, VO Edvardsson, BO Jensson, GA Arnadottir, SA Gudjonsson, R Fridriksdottir, H Katrinardottir, D Gudbjartsson, U Thorsteinsdottir, P Sulem, K Stefansson, R Palsson	European Journal of Human Genetics	2021
Sex dependent effects of post-natal penicillin on brain, behavior and immune regulation are prevented by concurrent probiotic treatment M Kayyal, T Javkar, MF Mian, D Binyamin, O Koren, KA Neufeld, P Forsythe	Scientific Reports	2020
The antibiotic vancomycin induces complexation and aggregation of gastrointestinal and submaxillary mucins V Dinu, Y Lu, N Weston, R Lithgo, H Coupe, G Channell, GG Adams, AT Gómez, C Sabater, A Mackie, C Parmenter, I Fisk, MK Phillips-Jones, SE Harding	Scientific Reports	2020
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey GS Balasubramaniam, M Arenas-Hernandez, E Escuredo, L Fairbanks, T Marinaki, S Mapplebeck, M Sheaff, MK Almond	Clinical Kidney Journal	2016
Genetic defects underlying renal stone disease G Rumsby	International Journal of Surgery	2016
Inborn Metabolic Diseases JM Saudubray, MR Baumgartner, J Walter	Inborn Metabolic Diseases	2016
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation R Valaperta, V Rizzo, F Lombardi, C Verdelli, M Piccoli, A Ghiroldi, P Creo, A Colombo, M Valisi, E Margiotta, R Panella, E Costa	BMC Nephrology	2014
Recurrent 2,8-Dihydroxyadenine Nephropathy: A Rare but Preventable Cause of Renal Allograft Failure: Recurrent 2,8-Dihydroxyadenine Nephropathy M Zaidan, R Palsson, E Merieau, EC Gall, A Garstka, U Maggiore, P Deteix, M Battista, ER Gagné, I Ceballos-Picot, JP van Huyen, C Legendre, M Daudon, VO Edvardsson, B Knebelmann	American Journal of Transplantation	2014
2,8-Dihydroxyadenine Urolithiasis: A Not So Rare Inborn Error of Purine Metabolism I Ceballos-Picot, M Daudon, J Harambat, A Bensman, B Knebelmann, G Bollée	Nucleosides, Nucleotides and Nucleic Acids	2014
Adenine phosphoribosyltransferase deficiency in children J Harambat, G Bollée, M Daudon, I Ceballos-Picot, A Bensman	Pediatric Nephrology	2012
Gout E Krishnan	Gout &amp Other Crystal Arthropathies	2012
Advances in Clinical Chemistry M Mahler	Advances in Clinical Chemistry Volume 54	2011
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency T Iwaki, T Kusaka, I Ohashi, T Nishida, T Imai, S Itoh	Pediatric Nephrology	2010
Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency G Bollee, C Dollinger, L Boutaud, D Guillemot, A Bensman, J Harambat, P Deteix, M Daudon, B Knebelmann, I Ceballos-Picot	Journal of the American Society of Nephrology : JASN	2010
Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion–8 bp insertion of the APRT gene suffering from severe renal failure VD Pietro, I Perruzza, AM Amorini, A Balducci, L Ceccarelli, G Lazzarino, P Barsotti, B Giardina, B Tavazzi	Clinical Biochemistry	2007
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example S Kuno, A Taniguchi, A Saito, S Tsuchida-Otsuka, N Kamatani	Journal of Human Genetics	2004
Three-Dimensional Structure of Human Adenine Phosphoribosyltransferase and Its Relation to DHA-Urolithiasis , M Silva, CH de Paula Silva, J Iulek, OH Thiemann	Biochemistry	2004
Mice deficient for cytosolic thymidine kinase gene develop fatal kidney disease VN Dobrovolsky, T Bucci, RH Heflich, J Desjardins, FC Richardson	Molecular Genetics and Metabolism	2003
Litiasis purínicas infrecuentes: déficit de adenina fosforribosiltransferasa y xantinuria hereditaria JA Costa, ÁZ Cabrera, SF Monleón	Medicina Clínica	2002
2,8-Dihydroxyadenine Urolithiasis in a Patient with Considerable Residual Adenine Phosphoribosyltransferase Activity in Cell Extracts but with Mutations in Both Copies of APRT L Deng, M Yang, S Fründ, T Wessel, RA de Abreu, JA Tischfield, A Sahota	Molecular Genetics and Metabolism	2001
Purine and Pyrimidine Metabolism in Man IX A Griesmacher, MM Müller, P Chiba		1998
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation C Terai, M Hakoda, H Yamanaka, N Kamatani, M Okai, F Takahashi, S Kashiwazaki	Clinical Genetics	1995
Detection of the thre common mutations of adeninephosphoribosyltransferase deficiency among Japanese H Higashimoto, A Ouchi, R Kawaguchi	Clinica Chimica Acta	1995
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency Y Kaneko, H Takeuchi, J Takenawa, H Nakayama, J Fujita, O Yoshida	Urological Research	1993
Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87 J Chen, A Sahota, GF Martin, M Hakoda, N Kamatani, PJ Stambrook, JA Tischfield	Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis	1993
A Case of a Compound Heterozygote for Adenine Phosphoribosyltransferase Deficiency (AprtJ/AprtQ0) Leading to 2,8-Dihydroxyadenine Urolithiasis: Review of the Reported Cases with 2,8-Dihydroxyadenine Stones in Japan H Takeuchi, Y Kaneko, J Fujita, O Yoshida	The Journal of Urology	1993
Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism U Gresser		1993
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients N Kamatani, M Hakoda, S Otsuka, H Yoshikawa, S Kashiwazaki	Journal of Clinical Investigation	1992
Molecular Bases for Hereditary Cancer-prone Diseases K Tatsumi, A Tachibana, A Fujimori	The Journal of Dermatology	1992
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family BS Gathof, A Sahota, U Gresser, J Chen, PJ Stambrook, JA Tischfield, N Zöllner	Klinische Wochenschrift	1991
A new method for the determination of adenine phosphoribosyltransferase activity in human erythrocytes by reversed phase high performance liquid chromatography T Kojima, T Nishina, M Kitamura, H Yamanaka, K Nishioka	Biomedical Chromatography	1991
Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes M Hakoda, H Yamanaka, N Kamatani, N Kamatani	The American Journal of Human Genetics	1991
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects A Mimori, Y Hidaka, VC Wu, SA Tarlé, N Kamatani, WN Kelley, TD Pallela	The American Journal of Human Genetics	1991
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele N Zhong, F Martiniuk, S Tzall, R Hirschhorn	The American Journal of Human Genetics	1991
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient J Chen, A Sahota, T Laxdal, M Scrine, S Bowman, C Cui, PJ Stambrook, JA Tischfield	The American Journal of Human Genetics	1991
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus A Sahota, J Chen, MA Behzadian, R Ravindra, H Takeuchi, PJ Stambrook, JA Tischfield	The American Journal of Human Genetics	1991
Mutational analysis of the structure and function of the adenine phosphoribosyltransferase enzyme of Chinese hamster JG de Boer, BW Glickman	Journal of Molecular Biology	1991
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency T Ishidate, S Igarashi, N Kamatani	The Journal of Pediatrics	1991
Adenosine in the Nervous System HA Simmonds	Adenosine in the Nervous System	1991
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method R Kawaguchi, H Higashimoto, K Hikiji, M Hakoda, N Kamatani	Clinica Chimica Acta	1991
Disturbance in the metabolism of 5′-methylthioadenosine and adenine in patients with neoplastic diseases, and in those with a deficiency in adenine phosphoribosyltransferase K Kaneko, S Fujimori, T Kumakawa, N Kamatani, I Akaoka	Metabolism	1991
Purine and Pyrimidine Metabolism in Man VII RA Harkness, GB Elion, N Zöllner		1991
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency A Sahota, J Chen, K Asaki, H Takeuchi, PJ Stambrook, JA Tischfield	Nucleic Acids Research	1990
Hyperurikämie, Gicht und andere Störungen des Purinhaushalts N Zöllner		1990
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation N Kamatani, S Kuroshima, M Hakoda, TD Palella, Y Hidaka	Human Genetics	1990
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0) leading to 2,8-dihydroxyadenine urolithiasis N Kamatani, S Kuroshima, H Yamanaka, S Nakashe, H Take, M Hakoda	Human Genetics	1990
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage N Kamatani, S Kuroshima, C Terai, Y Hidaka, TD Palella, K Nishioka	The American Journal of Human Genetics	1989
Purine and Pyrimidine Metabolism in Man VI K Mikanagi, K Nishioka, WN Kelley		1989
Distribution of Patients with 2,8-Dihydroxyadenine Urolithiasis and Adenine Phosphoribosyltransferase Deficiency in Japan N Kamatani, T Sonoda, K Nishioka	The Journal of Urology	1988

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