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2,8-dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT
MOLECULAR GENETICS AND METABOLISM
Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains
NATURE GENETICS
Sequential analysis of kidney stone formation in the Aprt knockout mouse
KIDNEY INTERNATIONAL
In vivo loss of heterozygosity in T-cells of B6C3F1 Aprt(+/-) mice
ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis
KIDNEY INTERNATIONAL
Chromosome instability contributes to loss of heterozygosity in mice lacking p53
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Biallelic methylation and silencing of mouse Aprt in normal kidney cells
CANCER RESEARCH
Detecting point mutations by denaturing-gradient gel electrophoresis
NUCLEIC ACID PROTOCOLS HANDBOOK
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
MOLECULAR GENETICS AND METABOLISM
Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model
EXPERIMENTAL HEMATOLOGY
Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
A novel signature mutation for oxidative damage resembles a mutational pattern found commonly in human cancers
CANCER RESEARCH
Solid tissues removed from Atm homozygous deficient mice do not exhibit a mutator phenotype for second-step autosomal mutations
CANCER RESEARCH
CHRONIC-RENAL-FAILURE IN A MOUSE MODEL OF HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
American journal of physiology. Renal, fluid and electrolyte physiology
LINKAGE OF AN ALCOHOLISM-RELATED SEVERITY PHENOTYPE TO CHROMOSOME-16
American journal of medical genetics
ANXIETY PRONENESS LINKED TO EPISTATIC LOCI IN GENOME SCAN OF HUMAN PERSONALITY-TRAITS
American journal of medical genetics
GENOME-WIDE SEARCH FOR GENES AFFECTING THE RISK FOR ALCOHOL DEPENDENCE
American journal of medical genetics
A FAMILY-BASED ANALYSIS OF WHETHER THE FUNCTIONAL PROMOTER ALLELES OFTHE SEROTONIN TRANSPORTER GENE HTT AFFECT THE RISK FOR ALCOHOL DEPENDENCE
Alcoholism, clinical and experimental research
A FAMILY-BASED ANALYSIS OF THE ASSOCIATION OF THE DOPAMINE D2 RECEPTOR (DRD2) WITH ALCOHOLISM
Alcoholism, clinical and experimental research
Linkage of an alcoholism-related severity phenotype to chromosome 16
ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH
GENETICS OF ALCOHOLISM
Science
SINGLE-NUCLEOTIDE POLYMORPHISM IN THE HUMAN MU-OPIOID RECEPTOR GENE ALTERS BETA-ENDORPHIN BINDING AND ACTIVITY - POSSIBLE IMPLICATIONS FOR OPIATE ADDICTION
Proceedings of the National Academy of Sciences of the United Statesof America
THE FUNCTIONS OF 5 DISTINCT MAMMALIAN PHOSPHOLIPASE A(2)S IN REGULATING ARACHIDONIC-ACID RELEASE - TYPE IIA AND TYPE-V SECRETORY PHOSPHOLIPASE A(2)S ARE FUNCTIONALLY REDUNDANT AND ACT IN CONCERT WITH CYTOSOLICPHOSPHOLIPASE A(2)
The Journal of biological chemistry
LOCALIZATION OF GROUP-IIC LOW-MOLECULAR-WEIGHT PHOSPHOLIPASE A(2) MESSENGER-RNA TO MEIOTIC CELLS IN THE MOUSE
Journal of cellular biochemistry
LOSS OF HETEROZYGOSITY ANALYSIS IN A HUMAN FIBROSARCOMA CELL-LINE
Cytogenetics and cell genetics
ALTERED HEMATOPOIESIS, BEHAVIOR, AND SEXUAL FUNCTION IN MU-OPIOID RECEPTOR-DEFICIENT MICE
The Journal of experimental medicine
A THEMATIC SERIES ON PHOSPHOLIPASES .5. A REASSESSMENT OF THE LOW-MOLECULAR-WEIGHT PHOSPHOLIPASE A(2) GENE FAMILY IN MAMMALS
The Journal of biological chemistry
ANALYSIS OF THE SECRETORY PHOSPHOLIPASE A(2) THAT MEDIATES PROSTAGLANDIN PRODUCTION IN MAST-CELLS
The Journal of biological chemistry
HIGH-FREQUENCY IN-VIVO LOSS OF HETEROZYGOSITY IS PRIMARILY A CONSEQUENCE OF MITOTIC RECOMBINATION
Cancer research
LOSS OF HETEROZYGOSITY OR - HOW I LEARNED TO STOP WORRYING AND LOVE MITOTIC RECOMBINATION
American journal of human genetics
ELEVATED FREQUENCY OF APRT LOSS OF HETEROZYGOSITY IN P53 NULL MICE
American journal of human genetics
GENETIC AND BIOCHEMICAL-ANALYSIS OF A MOUSE MODEL FOR HUMAN DHA UROLITHIASIS
American journal of human genetics
IDENTIFICATION AND APPLICATION OF POLYMORPHISMS FLANKING THE HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE GENE
Human mutation
HPRT-APRT-DEFICIENT MICE ARE NOT A MODEL FOR LESCH-NYHAN SYNDROME
Human molecular genetics
APRT - A VERSATILE IN-VIVO RESIDENT REPORTER OF LOCAL MUTATION AND LOSS OF HETEROZYGOSITY
Environmental and molecular mutagenesis
LOW-MOLECULAR-WEIGHT, CALCIUM-DEPENDENT PHOSPHOLIPASE-A, GENES ARE LINKED AND MAP TO HOMOLOGOUS CHROMOSOME REGIONS IN MOUSE AND HUMAN
Genomics
COMPLEX CHROMOSOMAL MECHANISMS LEAD TO APRT LOSS OF HETEROZYGOSITY INHETEROPLOID CELLS
Cytogenetics and cell genetics
ADENINE PHOSPHORIBOSYLTRANSFERASE-DEFICIENT MICE DEVELOP 2,8-DIHYDROXYADENINE NEPHROLITHIASIS
Proceedings of the National Academy of Sciences of the United Statesof America
NOVEL GROUP-V PHOSPHOLIPASE A(2) INVOLVED IN ARACHIDONIC-ACID MOBILIZATION IN MURINE P388D(1) MACROPHAGES
The Journal of biological chemistry
3 SECRETORY PHOSPHOLIPASE A(2) GENES THAT MAP TO HUMAN-CHROMOSOME 1P35-36 ARE NOT MUTATED IN INDIVIDUALS WITH ATTENUATED ADENOMATOUS POLYPOSIS-COLI
Cancer research
INVOLVEMENT OF THE MU-OPIOID RECEPTOR IN MYELOID PROGENITOR-CELL PROLIFERATION - EVIDENCE FROM MU-OPIOID RECEPTOR GENE KNOCKOUT MICE
Blood
GENETIC-HETEROGENEITY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN A GENETIC ISOLATE (AMISH) AND EVIDENCE FOR A NEW LOCUS
Human molecular genetics
AFLATOXIN-B1, 2-AMINOANTHRACENE, AND 7,12-DIMETHYLBENZ[A]ANTHRACENE-INDUCED FRAMESHIFT MUTATIONS IN HUMAN APRT
Environmental and molecular mutagenesis
A GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY CODES FOR A PROTEASE, CALPAIN-3
MS. Medecine sciences
MUTATIONS IN THE PROTEOLYTIC-ENZYME CALPAIN-3 CAUSE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2A
Cell
COMPLEX CHROMOSOME MECHANISMS LEADING TO THE LOSS OF WILD-TYPE ALLELEOF APRT GENE IN HETEROPLOID CELLS
American journal of human genetics
PREFERENTIAL LOCALIZATION OF THE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A GENE IN THE PROXIMAL PART OF A 1-CM 15Q15.1-Q15.3 INTERVAL
American journal of human genetics
OCCURRENCE OF A MISSENSE MUTATION IN ONE ALLELE AND A 7-BASEPAIR DELETION IN THE OTHER ALLELE IN A PATIENT WITH ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
Human mutation
MISSENSE MUTATION IN THE ADENINE PHOSPHORIBOSYLTRANSFERASE GENE CAUSING 2,8-DIHYDROXYADENINE UROLITHIASIS
Human molecular genetics
IDENTIFICATION OF A 7-BASEPAIR DELETION IN THE ADENINE PHOSPHORIBOSYL-TRANSFERASE GENE AS A CAUSE OF 2,8-DIHYDROXYADENINE UROLITHIASIS
The Clinical investigator
SINGLE-BASE DELETION INDUCED BY BENZO[A]PYRENE DIOL EPOXIDE AT THE ADENINE PHOSPHORIBOSYLTRANSFERASE LOCUS IN HUMAN FIBROSARCOMA CELL-LINES
MUTATION RESEARCH
CLONING AND RECOMBINANT EXPRESSION OF A NOVEL HUMAN LOW-MOLECULAR-WEIGHT CA2-DEPENDENT PHOSPHOLIPASE-A(2)()
The Journal of biological chemistry
CLONING AND CHARACTERIZATION OF NOVEL RAT AND MOUSE LOW-MOLECULAR-WEIGHT CA2-DEPENDENT PHOSPHOLIPASE-A(2)S CONTAINING 16 CYSTEINES()
The Journal of biological chemistry
CLONING, EXPRESSION AND PARTIAL CHARACTERIZATION OF A NOVEL RAT PHOSPHOLIPASE A(2)
Biochimica et biophysica acta, L. Lipids and lipid metabolism
LOSS OF HETEROZYGOSITY - THE MOST FREQUENT CAUSE OF RECESSIVE PHENOTYPE EXPRESSION AT THE HETEROZYGOUS HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE LOCUS
Molecular carcinogenesis
ELEVATED LEVELS OF NEUTROPHIL 4-HYDROXYNONENAL IN CANINE NEURONAL CEROID-LIPOFUSCINOSIS AND HUMAN IMMORTALIZED LYMPHOCYTES OF NCL PATIENTS
Journal of inherited metabolic disease
ANALYSIS OF GERMLINE AND INVIVO SOMATIC MUTATIONS IN THE HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE GENE - MUTATIONAL HOT-SPOTS AT THE INTRON-4 SPLICE DONOR SITE AND AT CODON-87
MUTATION RESEARCH
GENETIC-STRUCTURE ANALYSIS AND LOSS OF HETEROZYGOSITY (LOH) IN HUMAN-CELLS
American journal of human genetics
EXON SKIPPING IN THE WILD-TYPE TRANSCRIPTS OF APRT AND ITS ENHANCEMENT BY A NONSENSE MUTATION
American journal of human genetics
INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, NONPANCREATIC PHOSPHOLIPASE-A2 (PLA2) AND 2 PLA2-LIKE GENE FRAGMENTS MAP TO 1P35
American journal of human genetics
CLONING OF A NOVEL RAT LOW-MOLECULAR-WEIGHT PHOSPHOLIPASE-A(2) AND ITS HUMAN HOMOLOG
American journal of human genetics