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Disease on EC 2.4.2.7 - adenine phosphoribosyltransferase

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DISEASE
TITLE OF PUBLICATION
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5'-nucleotidase deficiency
Inborn errors of purine metabolism: clinical update and therapies.
Acidosis
Genetic defects underlying renal stone disease.
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Acidosis, Renal Tubular
Genetic defects underlying renal stone disease.
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Acute Kidney Injury
Advances in Urine Microscopy.
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.
2, 8 Dihydroxyadenine urolithiasis: A case report and review of literature.
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.
2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney.
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
2,8-Dihydroxyadenine renal stones in a 41-year-old man.
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency.
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
2,8-dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis.
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
A Rare Case of APRT Deficiency with End-stage Renal Failure and Successful Renal Transplant.
A rare case of primary non-function of renal allograft due to adenine phosphoribosyltransferase deficiency.
Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction.
Adenine phosphoribosyltransferase deficiency as a cause of renal failure.
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation.
Adenine Phosphoribosyltransferase Deficiency in a Chinese Man with Early-onset Gout.
Adenine phosphoribosyltransferase deficiency in a female with gout.
Adenine phosphoribosyltransferase deficiency in children.
Adenine phosphoribosyltransferase deficiency in cultured mouse mammary tumor FM3A cells resistant to 4-carbamoylimidazolium 5-olate.
Adenine phosphoribosyltransferase deficiency in Iceland.
Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.
Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Adenine Phosphoribosyltransferase Deficiency.
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals.
Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis.
Adenine phosphoribosyltransferase deficiency: a simple diagnostic test.
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.
Adenine phosphoribosyltransferase deficiency: report of a second family.
Advances in Urine Microscopy.
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Allelic losses in mutations at the aprt locus of human lymphoblastoid cells.
Altered kinetic properties of a mutant adenine phosphoribosyltransferase.
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency.
APRT deficiency: the need for early diagnosis.
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
Characterization of an adenine phosphoribosyltransferase deficiency.
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant.
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report?.
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.
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.
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Common altered characteristics of mutant enzymes from patients with Japanese type APRT deficiencies.
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example.
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Complete deficiency of adenine phosphoribosyl transferase: report of a new family.
Complete deficiency of adenine phosphoribosyltransferase. Report of a family.
Complete deficiency of adenine phosphoribosyltransferase: a report of three cases and immunologic and phagocytic investigations.
Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.
Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani.
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure.
Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure.
Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant.
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system.
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method.
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient.
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.
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Embryonic stem cells and somatic cells differ in mutation frequency and type.
Erythrocyte adenine PRPP availability in two types of APRT deficiency using silicon oil method.
Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies.
Expression Profiling of Crystal-Induced Injury in Human Kidney Epithelial Cells.
Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0).
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.
Febuxostat in adenosine phosphoribosyltransferase deficiency.
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency.
Fourier transform infrared microscopy identification of crystal deposits in tissues: clinical importance in various pathologies.
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
Gout with adenine phosphoribosyl transferase deficiency.
Gout, uric acid and purine metabolism in paediatric nephrology.
Hereditary causes of kidney stones and chronic kidney disease.
HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
Incidence of APRT deficiency.
Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus.
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Kidney Transplant Outcomes in Patients with Adenine Phosphoribosyltransferase Deficiency.
Kidney transplantation in a patient with severe adenine phosphoribosyl transferase deficiency: obstacles and pitfalls.
Long-term renal outcomes of APRT deficiency presenting in childhood.
Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.
Loss of heterozygosity and point mutation at Aprt locus in T cells and fibroblasts of Pms2-/- mice.
Male sterility associated with APRT deficiency in Arabidopsis thaliana results from a mutation in the gene APT1.
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.
Metabolic consequences of adenine-phosphoribosyl transferase deficiency in V79 hamster fibroblasts.
Methylthioadenosine phosphorylase activity in human erythrocytes.
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
Minimum allopurinol dose for adenine phosphoribosyl transferase deficiency.
Molecular analysis of APRT deficiency in mouse P19 teratocarcinoma stem cell line.
Mutational basis of adenine phosphoribosyltransferase deficiency.
New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency.
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.
Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT.
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase.
Progressive renal dysfunction and macrophage infiltration in interstitial fibrosis in an adenine-induced tubulointerstitial nephritis mouse model.
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency.
Purine enzyme defects as a cause of acute renal failure in childhood.
Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy.
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review.
Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.
Role of the mismatch repair gene, Msh6, in suppressing genome instability and radiation-induced mutations.
Search for the mechanisms of high incidence of APRT deficiency among Japanese.
Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.
Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase.
Similarity of in vivo somatic mutations at an autosomal adenine phosphoribosyltransferase locus between T- and B-cells in human peripheral blood.
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.
Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.
Spontaneous and ionizing radiation induced mutations involve large events when selecting for loss of an autosomal locus.
Substrate specificity of human deoxycytidine kinase toward antiviral 2',3'-dideoxynucleoside analogs.
The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Unusual cause of crystalline nephropathy.
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria.
[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]
[2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy]
[2,8-dihydroxyadenine urolithiasis. Case report and literature review.]
[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]
[A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency].
[A case of lithiasis caused by 2,8 dihydroxyadenine. Evolutive characteristics. Therapeutic problems]
[A Case Report of 2,8-Dihydroxyadenine Stone].
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]
[Adenine phosphoribosyltransferase deficiency]
[APRT deficiency in Japanese]
[APRT deficiency]
[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis]
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]
[Determination and significance of adenine in the urine and the serum of a patient with congenital adenine phosphoribosyltransferase deficiency]
[From clinical tests to etiology: analysis of clinical features. Adenine phosphoribosyltransferase deficiency]
[Genotype and genetic diagnosis of APRT deficiency]
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]
[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
[Uric acid stones in children. Identification and therapy of a newly detected defect of adenine-phosphoribosyltransferase (author's transl)]
adenosine deaminase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
adenylosuccinate lyase deficiency
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Alopecia
No self-injurious behavior was found in HPRT-deficient mice treated with 9-ethyladenine.
Anemia, Sideroblastic
[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]
Arthritis, Gouty
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.
[Investigation of a variant form of hypoxanthine-phosphoribosyl transferase in a family (author's transl)]
Bartter Syndrome
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Breast Neoplasms
Proteomic analysis of human macrophages exposed to hypochlorite-oxidized low-density lipoprotein.
Search for novel proteins involved in the development of chemoresistance in colorectal cancer and fibrosarcoma cells in vitro using two-dimensional electrophoresis, mass spectrometry and microsequencing.
Carcinogenesis
Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus.
Carcinoma
Purification and characterization of adenine phosphoribosyltransferase from mouse mammary carcinoma FM3A cells in culture.
Purine metabolizing enzymes in lymphocytes from patients with solid tumors.
Carcinoma, Bronchogenic
Purine metabolizing enzymes in lymphocytes from patients with solid tumors.
Carcinoma, Ehrlich Tumor
Purification and properties of adenylate pyrophosphorylase from Ehrlich ascites tumor cells.
Carcinoma, Embryonal
A role for certain mouse Aprt sequences in resistance to toxic adenine analogs.
Aberrantly Silenced Promoters Retain a Persistent Memory of the Silenced State After Long-Term Reactivation.
At least two distinct epigenetic mechanisms are correlated with high-frequency "switching" for APRT phenotypic expression in mouse embryonal carcinoma stem cells.
Hemidemethylation is sufficient for chromatin relaxation and transcriptional activation of methylated aprt gene in mouse P19 embryonal carcinoma cell line.
Molecular and biochemical elucidation of a cellular phenotype characterized by adenine analogue resistance in the presence of high levels of adenine phosphoribosyltransferase activity.
Silencing of mouse Aprt is a gradual process in differentiated cells.
Carcinoma, Hepatocellular
Direct selection of hepatoma cell variants deficient in alpha 1-antitrypsin gene expression.
Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues.
Carcinoma, Ovarian Epithelial
Consolidative abdominopelvic radiotherapy after surgery and carboplatin/paclitaxel chemotherapy for epithelial ovarian cancer.
Treatment of early epithelial ovarian cancer with chemotherapy and abdominopelvic radiotherapy: results of a prospective treatment protocol.
Coloboma
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Colorectal Neoplasms
Deletion mapping of highly conserved transcribed sequence downstream from APRT locus.
High rate of multilocus deletion in a human tumor cell line.
Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.
Multiple dispersed spontaneous mutations: a novel pathway of mutation in a malignant human cell line.
Search for novel proteins involved in the development of chemoresistance in colorectal cancer and fibrosarcoma cells in vitro using two-dimensional electrophoresis, mass spectrometry and microsequencing.
Confusion
Purine enzyme defects as a cause of acute renal failure in childhood.
Corneal Dystrophies, Hereditary
Corneal dystrophy and total adenine phosphoribosyltransferase (APRT) deficiency.
Cystic Fibrosis
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
Cystinosis
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Cystinuria
Genetic defects underlying renal stone disease.
Hereditary causes of kidney stones and chronic kidney disease.
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Cysts
Artemia purine phosphoribosyltransferases. Purification and characterization.
Deglutition Disorders
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
Dent Disease
Hereditary causes of kidney stones and chronic kidney disease.
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Dermatitis
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
dihydropyrimidinase deficiency
Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations.
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Dihydropyrimidine Dehydrogenase Deficiency
Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations.
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Diphtheria
Cytotoxic and mutagenic properties of shale oil byproducts II. Comparison of mutagenic effects at five genetic markers induced by retort process water plus near ultraviolet light in Chinese hamster ovary cells.
Down Syndrome
Activities of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in erythrocytes from patients with Down's syndrome.
Erythrocyte adenosine deaminase, purine nucleoside phosphorylase and phosphoribosyltransferase activity in patients with Down's syndrome.
Dysgeusia
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
Dyspnea
APRT deficiency: the need for early diagnosis.
Fabry Disease
Advances in Urine Microscopy.
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Fibrosarcoma
Single-base deletion induced by benzo[a]pyrene diol epoxide at the adenine phosphoribosyltransferase locus in human fibrosarcoma cell lines.
Genetic Diseases, Inborn
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency.
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]
[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis]
[Genotype and genetic diagnosis of APRT deficiency]
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Giardiasis
Purification and characterization of guanine phosphoribosyltransferase from Giardia lamblia.
Gout
Adenine Phosphoribosyltransferase Deficiency in a Chinese Man with Early-onset Gout.
Adenine phosphoribosyltransferase deficiency in a female with gout.
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.
Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.
Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout.
Gout with adenine phosphoribosyl transferase deficiency.
[Metabolism of purine nucleotides and the production of uric acid]
Hematuria
Advances in Urine Microscopy.
Hemophilia A
[Adenine phosphoribosyltransferase and hypoxanthine phosphoribosyltransferase of blood platelets in hereditary coagulopathies]
Herpes Simplex
Genetic linkage but independent expression of functional HSV-1 tk and mammalian aprt genes after cotransfer to L cells.
Transduction of the Chinese hamster ovary aprt gene by herpes simplex virus.
Hypercalcemia
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Hyperoxaluria, Primary
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Expression Profiling of Crystal-Induced Injury in Human Kidney Epithelial Cells.
Genetic defects underlying renal stone disease.
Hereditary causes of kidney stones and chronic kidney disease.
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.
Hypersensitivity
Molecular mechanisms of mutagen hypersensitivity in adenine phosphoribosyl transferase-deficient Friend mouse erythroleukaemia cells.
hypoxanthine phosphoribosyltransferase deficiency
Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography.
Gout, uric acid and purine metabolism in paediatric nephrology.
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
Infections
Correction of a deletion mutant by gene targeting with an adenovirus vector.
Transduction of the Chinese hamster ovary aprt gene by herpes simplex virus.
Infertility, Male
Cloning a second form of adenine phosphoribosyl transferase gene (TaAPT2) from wheat and analysis of its association with thermo-sensitive genic male sterility (TGMS).
Male sterility associated with APRT deficiency in Arabidopsis thaliana results from a mutation in the gene APT1.
[Fertility alteration of male sterile rice line annong S-1 and the expression of fertility related aprt gene]
Kidney Calculi
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity.
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Expression Profiling of Crystal-Induced Injury in Human Kidney Epithelial Cells.
Hereditary causes of kidney stones and chronic kidney disease.
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Kidney Transplant Outcomes in Patients with Adenine Phosphoribosyltransferase Deficiency.
Long-term renal outcomes of APRT deficiency presenting in childhood.
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
Sequential analysis of kidney stone formation in the Aprt knockout mouse.
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
[A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency].
Kidney Diseases
Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report?.
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Kidney Failure, Chronic
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
A Rare Case of APRT Deficiency with End-stage Renal Failure and Successful Renal Transplant.
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant.
Fourier transform infrared microscopy identification of crystal deposits in tissues: clinical importance in various pathologies.
Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Lesch-Nyhan Syndrome
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
Effect of blood transfusion on activities of hypoxanthineguanine phosphoribosyltransferase (E.C.2.4.2.8.) and adenine phosphoribosyltransferase (E.C.2.4.2.7.) in cirulating red blood cells of a patient with Lesch-Nyhan syndrome.
Erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome.
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
Measurement of HPRT activity in the human unfertilized oocyte and pre-embryo.
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.
Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Resistance of erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome to destabilization to heat by hypoxanthine.
Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome.
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]
Leukemia
Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.
Leukemia, Lymphocytic, Chronic, B-Cell
Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.
Enzymological studies in chronic lymphocytic leukemia.
Lung Neoplasms
Effect of TEI-6720, a xanthine oxidase inhibitor, on the nucleoside transport in the lung cancer cell line A549.
Non-small-cell lung cancer cell lines A549 and NCI-H460 express hypoxanthine guanine phosphoribosyltransferase on the plasma membrane.
Lymphoma
Isolation and characterization of mutants at the APRT locus in the L-5178Y TK+/TK- mouse lymphoma cell line.
Preclinical toxicology studies with acyclovir: genetic toxicity tests.
Malaria
Characterization of adenine phosphoribosyltransferase from the human malaria parasite, Plasmodium falciparum.
Malnutrition
Effect of undernutrition on some enzymes involved in the salvage pathway of purine nucleotides in different regions of developing rat brain.
Medullary Sponge Kidney
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Metabolic Diseases
[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]
[Acute renal failure and 2,8-dihydroxyadeninuria]
Mucopolysaccharidosis IV
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Mucositis
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
Myotonic Dystrophy
Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells.
n-acetylgalactosamine-6-sulfatase deficiency
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Nasopharyngeal Neoplasms
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
Neoplasms
A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.
Adenine phosphoribosyltransferase activities of mouse ascites tumors and derived tumorigenic and nontumorigenic tissue culyures.
Adenine phosphoribosyltransferase deficiency in cultured mouse mammary tumor FM3A cells resistant to 4-carbamoylimidazolium 5-olate.
Allelic losses in mutations at the aprt locus of human lymphoblastoid cells.
APRT: a versatile in vivo resident reporter of local mutation and loss of heterozygosity.
Assays to predict the genotoxicity of the chromosomal mutagen etoposide -- focussing on the best assay.
Chromosomal assignment of seven genes on canine chromosomes by fluorescence in situ hybridization.
Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.
Configuration of a scintillation proximity assay for the activity assessment of recombinant human adenine phosphoribosyltransferase.
Differentiation alters the unstable expression of adenine phosphoribosyltransferase in mouse teratocarcinoma cells.
DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice.
Effect of expression of adenine phosphoribosyltransferase on the in vivo anti-tumor activity of prodrugs activated by E. coli purine nucleoside phosphorylase.
Failure of the phorbol ester 12-O-tetradecanoylphorbol-13-acetate to enhance sister chromatid exchange, mitotic segregation, or expression of mutations in Chinese hamster cells.
Helical tomotherapy versus conventional radiation to deliver abdominopelvic radiation.
High rate of multilocus deletion in a human tumor cell line.
In vivo loss of heterozygosity in T-cells of B6C3F1 Aprt(+/-) mice.
In-silico gene essentiality analysis of polyamine biosynthesis reveals APRT as a potential target in cancer.
Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.
Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus.
Molecular bases for hereditary cancer-prone diseases.
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Multiple dispersed spontaneous mutations: a novel pathway of mutation in a malignant human cell line.
Nuclear translocation of ?-catenin during mesenchymal stem cells differentiation into hepatocytes is associated with a tumoral phenotype.
Purification and characterization of adenine phosphoribosyltransferase from mouse mammary carcinoma FM3A cells in culture.
Purification and properties of adenylate pyrophosphorylase from Ehrlich ascites tumor cells.
Purine enzymology of human colon carcinomas.
Purine metabolism of human glioblastoma in vivo.
Purine-phosphoribosyltransferase activities in rat and mouse tissues and in Ehrlich ascites-tumour cells.
Radiotherapy in early ovarian cancer.
Twice-daily, split-course abdominopelvic radiation therapy after chemotherapy and positive second-look laparotomy for epithelial ovarian carcinoma.
Nephritis
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction.
Nephritis, Hereditary
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Nephritis, Interstitial
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Nephrocalcinosis
Hereditary causes of kidney stones and chronic kidney disease.
Nephrolithiasis
2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney.
Adenine phosphoribosyltransferase deficiency in children.
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis.
APRT deficiency: the need for early diagnosis.
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report?.
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure.
Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant.
Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis.
Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease.
Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells.
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Neutropenia
Consolidative abdominopelvic radiotherapy after surgery and carboplatin/paclitaxel chemotherapy for epithelial ovarian cancer.
ornithine carbamoyltransferase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Ornithine Carbamoyltransferase Deficiency Disease
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
orotidine-5'-phosphate decarboxylase deficiency
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria.
Ovarian Neoplasms
Consolidative abdominopelvic radiotherapy after surgery and carboplatin/paclitaxel chemotherapy for epithelial ovarian cancer.
Radiotherapy in early ovarian cancer.
Results of post-operative abdomino-pelvic radiotherapy in intermediate- and high-risk epithelial ovarian carcinoma.
Treatment of early epithelial ovarian cancer with chemotherapy and abdominopelvic radiotherapy: results of a prospective treatment protocol.
Papilloma
Reconstitution of an episomal mouse aprt gene as a consequence of recombination.
phosphatidylcholine-sterol o-acyltransferase deficiency
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
purine-nucleoside phosphorylase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
[Escherichia coli K-12 mutants assimilating adenine via a new metabolic pathway]
[Escherichia coli K-12 mutants capable of catabolizing purine nucleosides in the absence of purine nucleoside phosphorylase]
Renal Insufficiency
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
2,8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States.
Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Adenine phosphoribosyltransferase deficiency as a cause of renal failure.
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation.
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.
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.
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.
Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure.
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient.
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
Gout, uric acid and purine metabolism in paediatric nephrology.
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Renal Insufficiency, Chronic
2,8-dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Adenine phosphoribosyltransferase deficiency in children.
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
APRT deficiency: the need for early diagnosis.
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report?.
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Hereditary causes of kidney stones and chronic kidney disease.
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Kidney Transplant Outcomes in Patients with Adenine Phosphoribosyltransferase Deficiency.
Long-term renal outcomes of APRT deficiency presenting in childhood.
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.
Unusual cause of crystalline nephropathy.
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Retinal Detachment
Acquired peripheral retinal telangiectasia after retinal surgery.
Retinoblastoma
Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus.
Sarcoma
Sodium butyrate selectively induces transcription of promoters adjacent to the MoMSV viral enhancer.
Transcriptional activation of the adenine phosphoribosyltransferase promoter by an upstream butyrate-induced Moloney murine sarcoma virus enhancer-promoter element.
Transduction of the CHO aprt gene into mouse L cells using an adeno-5/APRT recombinant virus.
Sarcoma 180
5-Iodoribose 1-phosphate, an analog of ribose 1-phosphate. Enzymatic synthesis and kinetic studies with enzymes of purine, pyrimidine, and sugar phosphate metabolism.
Sarcoma, Avian
CpG island protects Rous sarcoma virus-derived vectors integrated into nonpermissive cells from DNA methylation and transcriptional suppression.
Purification and physiochemical properties of a recombinant bovine growth hormone produced by cultured murine fibroblasts.
Seminoma
Testicular seminoma: Scattered radiation dose to the contralateral testis in the modern era.
Skin Diseases
Reference gene screening of Batrachochytrium dendrobatidis and Batrachochytrium salamandrivorans for quantitative real-time PCR studies.
Skin Neoplasms
Significance of CpG methylation for solar UV-induced mutagenesis and carcinogenesis in skin.
Starvation
The control of cell proliferation by preformed purines: a genetic study. I. Isolation and preliminary characterization of Chinese hamster lines with single or multiple defects in purine "salvage" pathways.
Teratocarcinoma
Allelic variation linked to adenine phosphoribosyltransferase locus in mouse teratocarcinoma cell line and feral-derived mouse strains.
Differentiation alters the unstable expression of adenine phosphoribosyltransferase in mouse teratocarcinoma cells.
DNA demethylation in vitro: involvement of RNA.
High frequency "switching" at the adenine phosphoribosyltransferase locus in multipotent mouse teratocarcinoma stem cells.
Methylation of mouse adenine phosphoribosyltransferase gene is altered upon cellular differentiation and loss of phenotypic expression.
Molecular analysis of APRT deficiency in mouse P19 teratocarcinoma stem cell line.
Mouse teratocarcinoma mutant clones deficient in adenine phosphoribosyltransferase and developmentally pluripotent.
Thrombocytopenia
Consolidative abdominopelvic radiotherapy after surgery and carboplatin/paclitaxel chemotherapy for epithelial ovarian cancer.
Tourette Syndrome
Hypoxanthine guanine phosphoribosyltransferase (HGPRT) in Gilles de la Tourette syndrome.
Ureterolithiasis
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.
Urinary Bladder Calculi
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.
Urinary Calculi
Radiopaque 2,8-dihydroxyadenine lithiasis.
Renal stones in two children with two rare etiologies.
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
[2,8-dihydroxyadenine urolithiasis. Case report and literature review.]
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]
Urolithiasis
2, 8 Dihydroxyadenine urolithiasis: A case report and review of literature.
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
2,8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States.
2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis.
A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.
A mutant adenine phosphoribosyltransferase in 2,8-dihydroxyadenine urolithiasis.
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation.
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis.
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.
Altered kinetic properties of a mutant adenine phosphoribosyltransferase.
An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency.
Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase.
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.
Complete deficiency of adenine phosphoribosyl transferase: report of a new family.
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.
Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.
Dihydroxyadenine urolithiasis in children with partial deficiency of adenine phosphoribosyltransferase.
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies.
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency.
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
Molecular bases for hereditary cancer-prone diseases.
Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT.
Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Renal stones in two children with two rare etiologies.
Scanning electron microscopy of 2,8-dihydroxyadenine crystals and stones.
Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase.
Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.
Unusual cause of crystalline nephropathy.
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria.
[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]
[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]
[2,8-dihydroxyadenine urolithiasis. Case report and literature review.]
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]
[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis]
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]
[Urolithiasis composed of 2,8-dihydroxyadenine due to partial deficiency of adenine phosphoribosyltransferase. Report of a case (author's transl)]
[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases]
Werner Syndrome
Normal thermostability of hypoxanthine guanine phosphoribosyltransferase in erythrocytes from Werner's syndrome patients.
xanthine oxidase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Xerostomia
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.