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Lista de obras de Jay Tischfield

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus ⬇️

artículo científico publicado el 1 de mayo de 1991

2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.

artículo científico publicado en 2001

2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney

artículo científico publicado en 2009

2302 CYSTINE ANALOGS AS POTENTIAL THERAPEUTIC AGENTS FOR CYSTINURIA

scholarly article

A Family-Based Analysis of the Association of the Dopamine D2 Receptor (DRD2) with Alcoholism

scholarly article by Howard J. Edenberg et al published April 1998 in Alcoholism: Clinical and Experimental Research

A GABRA2 polymorphism improves a model for prediction of drinking initiation

artículo científico publicado en 2017

A KCNJ6 gene polymorphism modulates theta oscillations during reward processing

artículo científico publicado en 2016

A Reassessment of the Low Molecular Weight Phospholipase A2 Gene Family in Mammals ⬇️

artículo científico publicado el 11 de julio de 1997

A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9

artículo científico publicado en 2007

A balanced translocation t(11;16)(q13;p11), a cytogenetic study and an attempt at gene localization

artículo científico publicado en 1978

A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe.

artículo científico publicado en 1986

A cholinergic receptor gene (CHRM2) affects event-related oscillations

artículo científico publicado en 2006

A family-based analysis of the association of the dopamine D2 receptor (DRD2) with alcoholism

scientific article published on 01 April 1998

A family-based analysis of whether the functional promoter alleles of the serotonin transporter gene HTT affect the risk for alcohol dependence

artículo científico publicado en 1998

A genome wide association study of fast beta EEG in families of European ancestry

artículo científico publicado en 2016

A genome-wide association study of DSM-IV cannabis dependence

artículo científico publicado en 2010

A genome-wide association study of alcohol dependence

artículo científico publicado en 2010

A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53

artículo científico publicado en 2012

A human cell-based reporter detects microhomology-mediated end joining

artículo científico publicado en 2011

A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks

scientific journal article

A new electrophoretic-autoradiographic method for the visual detection of phosphotransferases

artículo científico publicado en 1973

A new location for the human adenine phosphoribosyltransferase gene ( APRT ) distal to the haptoglobin ( HP ) and fra(16)(q23) ( FRAUD ) loci

article

A new statistic to evaluate imputation reliability

artículo científico publicado en 2010

A novel signature mutation for oxidative damage resembles a mutational pattern found commonly in human cancers

artículo científico publicado en 1999

A radioimmune assay for human cupro-zinc superoxide dismutase and its application to erythrocytes

artículo científico publicado en 1979

A regulatory variation in OPRK1, the gene encoding the kappa-opioid receptor, is associated with alcohol dependence

artículo científico publicado en 2008

A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence

artículo científico publicado en 2008

A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family.

artículo científico publicado en 1991

A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts

artículo científico publicado en 2010

A ν-support vector regression based approach for predicting imputation quality

artículo científico publicado en 2012

ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry

artículo científico publicado en 2011

APRT: a versatile in vivo resident reporter of local mutation and loss of heterozygosity

scientific article published on 01 January 1996

Abnormality of chromosome 16 and its phenotypic expression.

artículo científico publicado en 1981

Addiction associated N40D mu-opioid receptor variant modulates synaptic function in human neurons

scientific article published on 03 September 2019

Addiction associated N40D mu-opioid receptor variant modulates synaptic function in human neurons

Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure

artículo científico publicado en 1993

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis

scientific journal article

Aflatoxin B1, 2-aminoanthracene, and 7,12-dimethylbenz[a]anthracene-induced frameshift mutations in human APRT.

artículo científico publicado en 1995

Alcohol dependence with comorbid drug dependence: genetic and phenotypic associations suggest a more severe form of the disorder with stronger genetic contribution to risk

artículo científico publicado en 2007

Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons

Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons

Allele-Specific Expression and High-Throughput Reporter Assay Reveal Functional Variants in Human Brains with Alcohol Use Disorders

Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders

scientific article published on 02 September 2019

Allelic variation linked to adenine phosphoribosyltransferase locus in mouse teratocarcinoma cell line and feral-derived mouse strains

artículo científico publicado en 1989

Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis

artículo científico publicado en 2000

Altered hematopoiesis, behavior, and sexual function in mu opioid receptor-deficient mice

artículo científico publicado en 1997

An ADH1B variant and peer drinking in progression to adolescent drinking milestones: evidence of a gene-by-environment interaction

artículo científico publicado en 2014

An unusual adenine phosphoribosyltransferase pseudogene is syntenic with its functional gene and is flanked by highly polymorphic DNAs

artículo científico publicado en 1986

Analysis of APRT mutations by reverse-transcription PCR

artículo científico publicado en 1994

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 ⬇️

artículo científico publicado el 1 de junio de 1993

Analysis of in vivo somatic mutations at the APRT locus

scientific article published on 01 January 1994

Analysis of the secretory phospholipase A2 that mediates prostaglandin production in mast cells

artículo científico publicado en 1997

Analysis of whole genome-transcriptomic organization in brain to identify genes associated with alcoholism

article

Anxiety proneness linked to epistatic loci in genome scan of human personality traits

artículo científico publicado en 1998

Appearance of hypoxanthine guanine phosphoribosyltransferase activity as a consequence of mycoplasma contamination

scientific article published in Nature

Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity

artículo científico publicado en 2005

Are genetic variants for tobacco smoking associated with cannabis involvement?

artículo científico publicado en 2015

Assignment of a gene for adenosine deaminase to human chromosome 20

artículo científico publicado en 1974

Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization

artículo científico publicado en 1974

Assignment of the genes for human peptidase A to chromosome 18 and cytoplasmic glutamic oxaloacetate transaminase to chromosome 10 using somatic-cell hybrids

artículo científico publicado en 1973

Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man

artículo científico publicado en 1973

Association analysis of genes encoding the nociceptin receptor (OPRL1) and its endogenous ligand (PNOC) with alcohol or illicit drug dependence

artículo científico publicado en 2007

Association of NFKB1, which encodes a subunit of the transcription factor NF-kappaB, with alcohol dependence

artículo científico publicado en 2007

Association of Polygenic Liability for Alcohol Dependence and EEG Connectivity in Adolescence and Young Adulthood

scientific article published on 17 October 2019

Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis

article

Association of parental divorce, discord, and polygenic risk with children's alcohol initiation and lifetime risk for alcohol use disorder

artículo científico publicado en 2023

Association of single nucleotide polymorphisms in a glutamate receptor gene (GRM8) with theta power of event-related oscillations and alcohol dependence

artículo científico publicado en 2009

Association of substance dependence phenotypes in the COGA sample

artículo científico publicado en 2014

Association of the kappa-opioid system with alcohol dependence

artículo científico publicado en 2006

Biallelic methylation and silencing of mouse Aprt in normal kidney cells

artículo científico publicado en 2000

Biomanufacturing for clinically advanced cell therapies

artículo científico publicado en 2018

Bladder outlet obstruction in male cystinuria mice

artículo científico publicado en 2009

Brief report: interferon-gamma induces expansion of Lin(-)Sca-1(+)C-Kit(+) Cells

artículo científico publicado en 2010

CCR2-dependent recruitment of macrophages by tumor-educated mesenchymal stromal cells promotes tumor development and is mimicked by TNFα

artículo científico publicado en 2012

CYP2A6 metabolism in the development of smoking behaviors in young adults

artículo científico publicado en 2016

Chromatin structure, pluripotency and differentiation

artículo científico publicado en 2013

Chromosome assignments in man of the genes for two hexosephosphate isomerases

artículo científico publicado en 1973

Chromosome assignments of genes in man using mouse-human somatic cell hybrids: Cytoplasmic isocitrate dehydrogenase (IDH 1) and malate dehydrogenase (MDH 1) to chromosomes 2.

artículo científico publicado en 1974

Chromosome assignments of genes in man using mouse-human somatic cell hybrids: mitochondrial superoxide dismutase (indophenol oxidase-B, tetrameric) to chromosome 6

artículo científico publicado en 1973

Chromosome instability contributes to loss of heterozygosity in mice lacking p53

artículo científico publicado en 2000

Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.

artículo científico publicado en 1998

Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry

artículo científico publicado en 2013

Cloning and characterization of novel rat and mouse low molecular weight Ca(2+)-dependent phospholipase A2s containing 16 cysteines

scientific journal article

Cloning and expression of a mouse adenine phosphoribosyltransferase gene ⬇️

artículo científico publicado el 1 de mayo de 1983

Cloning and recombinant expression of a novel human low molecular weight Ca(2+)-dependent phospholipase A2

scientific journal article

Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: Identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants ⬇️

artículo científico publicado el 1 de julio de 1984

Cloning, expression and partial characterization of a novel rat phospholipase A2

scientific journal article

Cognitive traits link to human chromosomal regions

artículo científico publicado en 2005

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

article

Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder.

artículo científico publicado en 2013

Common biological networks underlie genetic risk for alcoholism in African- and European-American populations.

artículo científico publicado en 2013

Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement

artículo científico publicado en 1987

Comparative effects of adenine analogs upon metabolic cooperation between Chinese hamster cells with different levels of adenine phosphoribosyltransferase activity

artículo científico publicado en 1978

Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.

artículo científico

Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15.

artículo científico publicado en 1992

Copy number variation accuracy in genome-wide association studies

artículo científico publicado en 2011

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

artículo científico publicado en 2014

Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence

artículo científico publicado en 2012

Correlation of Prostate Cancer CHD1 Status with Response to Androgen Deprivation Therapy: a Pilot Study

artículo científico publicado en 2018

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

artículo científico publicado en 2014

Cupro-Zinc Superoxide Dismutase:A Possible Biologic Marker for Alcoholism (Studies in Black Patients) ⬇️

artículo científico publicado el 1 de octubre de 1979

Cystinuria: genetic aspects, mouse models, and a new approach to therapy

artículo científico publicado en 2018

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

artículo científico publicado en 2017

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

artículo científico publicado en 2018

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

artículo científico publicado en 2018

Defining alcohol-related phenotypes in humans. The Collaborative Study on the Genetics of Alcoholism.

artículo científico publicado en 2002

Denaturing gradient gel analysis of single-base substitutions at a mouse adenine phosphoribosyltransferase splice acceptor site

artículo científico publicado en 1989

Description of the data from the Collaborative Study on the Genetics of Alcoholism (COGA) and single-nucleotide polymorphism genotyping for Genetic Analysis Workshop 14

artículo científico publicado en 2005

Detection of SARS-CoV-2 is comparable in clinical samples preserved in saline or viral transport media

scientific article published on 13 May 2020

Differentiation alters the unstable expression of adenine phosphoribosyltransferase in mouse teratocarcinoma cells

artículo científico publicado en 1986

Dosage transmission disequilibrium test (dTDT) for linkage and association detection

artículo científico publicado en 2013

ERG and CHD1 heterogeneity in prostate cancer: use of confocal microscopy in assessment of microscopic foci

artículo científico publicado en 2014

ERRATUM: Genome-wide association study identifies loci associated with liability to alcohol and drug dependence that is associated with variability in reward-related ventral striatum activity in African- and European-Americans

scientific article published on 01 November 2019

Elevated levels of neutrophil 4-hydroxynonenal in canine neuronal ceroid-lipofuscinosis and human immortalized lymphocytes of NCL patients

artículo científico publicado en 1993

Elevated superoxide dismutase in black alcoholics

artículo científico publicado en 1980

Embryonic stem cells and somatic cells differ in mutation frequency and type

artículo científico publicado en 2002

Endophenotypes successfully lead to gene identification: results from the collaborative study on the genetics of alcoholism

artículo científico publicado en 2005

Ethanol activates immune response in lymphoblastoid cells

artículo científico publicado en 2019

Ethanol treatment of lymphoblastoid cell lines from alcoholics and non-alcoholics causes many subtle changes in gene expression

artículo científico publicado en 2014

Ethanol-mediated activation of the NLRP3 inflammasome in iPS cells and iPS cells-derived neural progenitor cells

artículo científico publicado en 2016

Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts

artículo científico publicado en 2010

Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome

artículo científico publicado en 2004

Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first 6 months of the COVID-19 pandemic

artículo científico publicado en 2021

Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first six months of the COVID-19 pandemic

scientific article published on 04 December 2020

Exome Sequencing and Genomic Studies To Better Understand Alcohol Dependence

artículo científico publicado en 2019

Exploring the relationship between polygenic risk for cannabis use, peer cannabis use and the longitudinal course of cannabis involvement

scientific article published on 01 January 2019

Expression of FACIT collagens XII and XIV during bleomycin-induced pulmonary fibrosis in mice

artículo científico publicado en 2003

Expression profiling of crystal-induced injury in human kidney epithelial cells

artículo científico publicado en 2005

Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1.

artículo científico publicado en 2007

Family-based association analysis of alcohol dependence criteria and severity

artículo científico publicado en 2013

Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.

artículo científico publicado en 2012

Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder

artículo científico publicado en 2016

Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence

artículo científico publicado en 2005

GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence

artículo científico publicado en 2010

GDNF gene is associated with tourette syndrome in a family study

artículo científico publicado en 2015

Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis

artículo científico publicado en 2002

Gene expression in major depressive disorder

artículo científico publicado en 2015

Gene expression in major depressive disorder

artículo científico publicado en 2015

Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions

artículo científico publicado en 2015

Genetic and neurophysiological correlates of the age of onset of alcohol use disorders in adolescents and young adults

artículo científico publicado en 2013

Genetic association of GABA-A receptor alpha-2 and mu opioid receptor with cocaine cue-reactivity: evidence for inhibitory synaptic neurotransmission involvement in cocaine dependence

artículo científico publicado en 2012

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

artículo científico publicado en 1995

Genetic influences on craving for alcohol

artículo científico publicado en 2012

Genetic instability at the adenine phosphoribosyltransferase locus in mouse L cells

artículo científico publicado en 1982

Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence

artículo científico publicado en 2008

Genetics of Gilles De La Tourette Syndrome: Accelerating Discoveries Through Large-Scale Collaborative Efforts

artículo científico publicado en 2019

Genome-wide admixture mapping of DSM-IV alcohol dependence, criterion count, and the self-rating of the effects of ethanol in African American populations

scientific article published on 11 July 2020

Genome-wide association data suggest ABCB1 and immune-related gene sets may be involved in adult antisocial behavior

artículo científico publicado en 2015

Genome-wide association studies of alcohol dependence, DSM-IV criterion count and individual criteria

artículo científico publicado en 2019

Genome-wide association studies of the self-rating of effects of ethanol (SRE)

scientific article published on 03 July 2019

Genome-wide association study identifies loci associated with liability to alcohol and drug dependence that is associated with variability in reward-related ventral striatum activity in African- and European-Americans

artículo científico publicado en 2019

Genome-wide association study of Tourette's syndrome

artículo científico publicado en 2013

Genome-wide association study of alcohol dependence implicates a region on chromosome 11.

artículo científico publicado en 2010

Genome-wide polygenic scores for age at onset of alcohol dependence and association with alcohol-related measures

artículo científico publicado en 2016

Genome-wide search for genes affecting the risk for alcohol dependence

scientific article published on 01 May 1998

Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families

scientific journal article

Germline and Somatic Mutation at the APRT Locus of Mice and Man ⬇️

artículo científico publicado el 1 de enero de 1994

Groups IV, V, and X phospholipases A2s in human neutrophils: role in eicosanoid production and gram-negative bacterial phospholipid hydrolysis

artículo científico publicado en 2002

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome

scientific journal article

Heritability and genomics of gene expression in peripheral blood

artículo científico publicado en 2014

High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination

artículo científico publicado en 1997

Homologous recombination conserves DNA sequence integrity throughout the cell cycle in embryonic stem cells

artículo científico publicado en 2010

Human DNA ligases I and III, but not ligase IV, are required for microhomology-mediated end joining of DNA double-strand breaks

artículo científico publicado en 2008

Human chromosome 21 dosage: effect on the expression of the interferon induced antiviral state

scientific article published on 01 October 1974

Human chromosomes 6 and 21 are required for sensitivity to human interferon gamma

artículo científico publicado en 1987

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene

artículo científico publicado en 1996

Identification of DNA sequences required for mouse APRT gene expression

artículo científico publicado en 1988

Identification of Functional Genetic Variants Associated with Alcohol Dependence and Related Phenotypes Using a High-Throughput Assay

artículo científico publicado en 2020

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis

scientific article published on 01 July 1994

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency

artículo científico publicado en 1990

Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient

artículo científico publicado en 1991

Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family

artículo científico publicado en 1990

Identification of group v phospholipase A2 (GV PLA2) in human neutrophils (PMN): role in E. coli phospholipid hydrolysis

scholarly article

Identification of polymorphic markers flanking the human APRT gene

artículo científico publicado en 1994

Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease

artículo científico publicado en 2003

In vivo loss of heterozygosity in T-cells of B6C3F1 Aprt(+/-) mice

artículo científico publicado en 2000

Increased nicotine response in iPSC-derived human neurons carrying the CHRNA5 N398 allele

artículo científico publicado en 2016

Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells

scientific article published on 01 January 2002

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

artículo científico publicado en 2019

Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.

artículo científico publicado en 2017

Ionizing radiation is a potent inducer of mitotic recombination in mouse embryonic stem cells

artículo científico

L-histidine decarboxylase and Tourette's syndrome

artículo científico publicado en 2010

Lack of Association of Alcohol Dependence and Habitual Smoking With Catechol-O-methyltransferase

artículo científico publicado en 2007

Lesch-Nyhan syndrome. Repository identification Nos. GM-2290, 2291, 2292, 2338, 3115, 3116, and 3117

artículo científico publicado el 1 de enero de 1979

Letter: Autosomal assignment of the gene for the form of adenosine deaminase which is deficient in patients with combined immunodeficiency syndrome

artículo científico publicado en 1973

Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: implications for human brain dynamics and cognition

artículo científico publicado en 2004

Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus

artículo científico publicado en 2002

Linkage of an Alcoholism-Related Severity Phenotype to Chromosome 16

scholarly article by Tatiana Foroud et al published December 1998 in Alcoholism: Clinical and Experimental Research

Linkage of an alcoholism-related severity phenotype to chromosome 16

scientific article published on 01 December 1998

Localization of group IIc low molecular weight phospholipase A2 mRNA to meiotic cells in the mouse

artículo científico publicado en 1997

Loss of Heterozygosity or: How I Learned to Stop Worrying and Love Mitotic Recombination ⬇️

artículo científico publicado el 1 de noviembre de 1997

Loss of heterozygosity analysis in a human fibrosarcoma cell line

artículo científico publicado en 1997

Loss of heterozygosity and point mutation at Aprt locus in T cells and fibroblasts of Pms2-/- mice

artículo científico publicado en 2002

Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus

artículo científico publicado en 1993

Low-molecular-weight, calcium-dependent phospholipase A2 genes are linked and map to homologous chromosome regions in mouse and human

artículo científico publicado en 1996

Metabolic consequences of cystinuria.

artículo científico publicado en 2019

Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines

artículo científico publicado en 2012

Mismatch and base excision repair proficiency in murine embryonic stem cells

artículo científico publicado en 2011

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis

artículo científico publicado en 1994

Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains

artículo científico publicado en 2001

Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice.

artículo científico publicado en 1999

Mlh1 mediates tissue-specific regulation of mitotic recombination

scientific journal article

Modelling the single most common SNP in OPRM1 (A118G) using human neurons generated from two sets of independently targeted isogenic stem cell lines

scientific article published on 01 July 2020

Modulation of DNA end joining by nuclear proteins

artículo científico publicado en 2005

Molecular Basis of Inherited Disease

artículo científico publicado en 1994

Molecular characterization of a novel mutation in APRT heterozygotes

scientific article published on 01 January 1994

Mouse embryonic stem cells, but not somatic cells, predominantly use homologous recombination to repair double-strand DNA breaks

artículo científico publicado en 2010

Mouse transgenes in human cells detect specific base substitutions.

artículo científico publicado en 1990

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

artículo científico publicado en 2011

Multiple distinct CHRNB3-CHRNA6 variants are genetic risk factors for nicotine dependence in African Americans and European Americans

artículo científico publicado en 2014

Mutagenesis in vivo in T cells of p21-deficient mice

artículo científico publicado en 2009

Mutational basis of adenine phosphoribosyltransferase deficiency

artículo científico publicado en 1991

Neuropeptide Y receptor genes are associated with alcohol dependence, alcohol withdrawal phenotypes, and cocaine dependence

artículo científico publicado en 2008

New Jersey Center for Tourette Syndrome sharing repository: methods and sample description

artículo científico publicado en 2008

New tools and methods for direct programmatic access to the dbSNP relational database

artículo científico publicado en 2010

Nonreplication of an association of SGIP1 SNPs with alcohol dependence and resting theta EEG power

artículo científico publicado en 2011

Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model

artículo científico publicado en 2014

Novel group V phospholipase A2 involved in arachidonic acid mobilization in murine P388D1 macrophages

scientific journal article

Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement

artículo científico publicado en 1985

Obesity, smoking, and frontal brain dysfunction

artículo científico publicado en 2010

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency

scientific article published on 01 January 1994

Oxidative stress preferentially induces a subtype of micronuclei and mediates the genomic instability caused by p53 dysfunction

artículo científico publicado en 2014

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

artículo científico publicado en 2013

Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model

artículo científico publicado en 1999

Persistent infection by HSV-1 is associated with changes in functional architecture of iPSC-derived neurons and brain activation patterns underlying working memory performance

artículo científico publicado en 2014

Plasmid, phage, and genomic DNA-mediated transfer and expression of prokaryotic and eukaryotic genes in cultured human cells

artículo científico publicado en 1984

Polygenic Risk Scores Derived From a Tourette Syndrome Genome-wide Association Study Predict Presence of Tics in the Avon Longitudinal Study of Parents and Children Cohort

artículo científico publicado en 2018

Polygenic Scores for Major Depressive Disorder and Risk of Alcohol Dependence

artículo científico publicado en 2017

Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase

artículo científico publicado en 1991

Positive Selection on Loci Associated with Drug and Alcohol Dependence

artículo científico publicado en 2015

Prdx1 deficiency in mice promotes tissue specific loss of heterozygosity mediated by deficiency in DNA repair and increased oxidative stress

artículo científico publicado en 2012

Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

artículo científico publicado en 2016

Preparing DNA from Mammalian sources for genotyping

artículo científico publicado en 2007

Preparing DNA from blood for genotyping

artículo científico publicado en 2007

Preparing DNA from cell pellets for genotyping

artículo científico publicado en 2007

Preparing DNA from saliva for genotyping

artículo científico publicado en 2007

Prevalence of SARS-CoV-2 infection in previously undiagnosed health care workers at the onset of the U.S. COVID-19 epidemic

artículo científico publicado en 2020

Prevalence of SARS-CoV-2 infection in previously undiagnosed health care workers in New Jersey, at the onset of the U.S. COVID-19 pandemic

artículo científico publicado en 2020

Proceedings: Assignment of a selectable gene: adenine phosphoribosyltransferase to chromosme 16

scientific article published on 01 January 1974

Proceedings: Assignment of adenosine deaminase to chromosome 20

scientific article published on 01 January 1974

Proceedings: Assignment of the gene in man for mitochondrial superoxide dismutase (indophenol oxidase-B, tetrameric) to chromosome 6.

artículo científico publicado en 1974

Proceedings: Confirmation of the synteny of the human genes for cytoplasmic isocitrate dehydrogenase and cytoplasmic malate dehydrogenase and assignment to chromosome 2

scientific article published on 01 January 1974

Proceedings: Mouse-human somatic cell hybrids utilizing human parental cells containing a (14;22) translocation: assignment of the gene for nucleoside phosphorylase to chromosome 14.

artículo científico publicado en 1974

Proceedings: The genetics of the antiviral state in human cells

scientific article published on 01 January 1974

Protecting genomic integrity in somatic cells and embryonic stem cells

artículo científico publicado en 2006

Quantitation of human cuprozinc superoxide dismutase (SOD-1) by radioimmunoassay and its possible significance in disease

artículo científico publicado en 1981

Radiation-induced genetic instability in vivo depends on p53 status

artículo científico publicado en 2002

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

artículo científico publicado en 2011

Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes

artículo científico publicado en 2013

Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence

scientific article published on 20 September 2013

Reconstitution of an episomal mouse aprt gene as a consequence of recombination

artículo científico publicado en 1992

Reduced apoptosis and increased deletion mutations at Aprt locus in vivo in mice exposed to repeated ionizing radiation

artículo científico publicado en 2007

Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis

artículo científico publicado en 1992

Replication stress induces micronuclei comprising of aggregated DNA double-strand breaks

artículo científico publicado en 2011

Resveratrol protects mouse embryonic stem cells from ionizing radiation by accelerating recovery from DNA strand breakage

artículo científico publicado en 2011

Role of the mismatch repair gene, Msh6, in suppressing genome instability and radiation-induced mutations

artículo científico publicado en 2008

SIRT7 mediates L1 elements transcriptional repression and their association with the nuclear lamina

scientific article published on 01 September 2019

SIRT7 promotes genome integrity and modulates non-homologous end joining DNA repair.

artículo científico publicado en 2016

SP5 Cell and DNA Repositories in the Twenty-First Century: A Genetics Perspective

artículo científico publicado en 2007

SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study

artículo científico publicado en 2010

Sequential analysis of kidney stone formation in the Aprt knockout mouse

artículo científico publicado en 2001

Setting priorities for genomic research

artículo científico publicado en 2004

Sex differences in the human peripheral blood transcriptome

scientific article published on 17 January 2014

Sibling comparisons elucidate the associations between educational attainment polygenic scores and alcohol, nicotine and cannabis

scientific article published on 28 October 2019

Single-base deletion induced by benzo[a]pyrene diol epoxide at the adenine phosphoribosyltransferase locus in human fibrosarcoma cell lines

artículo científico publicado en 1994

Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction

artículo científico publicado en 1998

Single-nucleotide polymorphisms in corticotropin releasing hormone receptor 1 gene (CRHR1) are associated with quantitative trait of event-related potential and alcohol dependence

artículo científico publicado en 2010

SirT7 auto-ADP-ribosylation regulates glucose starvation response through mH2A1

scientific article published on 24 July 2020

Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice

artículo científico publicado en 2010

Solid tissues removed from ATM homozygous deficient mice do not exhibit a mutator phenotype for second-step autosomal mutations

scientific article published on 01 October 1999

Somatic recombination redux

artículo científico publicado en 2003

Stress-response pathways are altered in the hippocampus of chronic alcoholics

artículo científico publicado en 2013

Suppression of Vesicular Stomatitis Virus Defective Intefering Particle Generation by a Function(s) Associated with Human Chromosome 16 ⬇️

artículo científico publicado el 1 de diciembre de 1981

Synaptic mechanism of A118G OPRM1 Gene Variants In Human Neurons

Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology

artículo científico publicado en 2016

The AVPR1A gene and substance use disorders: association, replication, and functional evidence

artículo científico publicado en 2011

The Netherlands Twin Register biobank: a resource for genetic epidemiological studies

artículo científico publicado en 2010

The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.

artículo científico publicado en 2017

The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods

artículo científico publicado en 2014

The abundance of Rad51 protein in mouse embryonic stem cells is regulated at multiple levels

artículo científico publicado en 2012

The aggregate effect of dopamine genes on dependence symptoms among cocaine users: cross-validation of a candidate system scoring approach

artículo científico publicado en 2012

The breast cancer susceptibility allele CHEK2*1100delC promotes genomic instability in a knock-in mouse model

artículo científico publicado en 2006

The development of goals and objectives for a nutrition teaching program

artículo científico publicado en 1984

The functions of five distinct mammalian phospholipase A2S in regulating arachidonic acid release. Type IIa and type V secretory phospholipase A2S are functionally redundant and act in concert with cytosolic phospholipase A2

scientific journal article

The gene for the human immune interferon receptor is located on chromosome 6.

artículo científico publicado en 1986

The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21

artículo científico publicado en 1973

The novel mouse Polo-like kinase 5 responds to DNA damage and localizes in the nucleolus

artículo científico publicado en 2010

The role of GABRA2 in risk for conduct disorder and alcohol and drug dependence across developmental stages

artículo científico publicado en 2006

The tachykinin receptor 3 is associated with alcohol and cocaine dependence

artículo científico publicado en 2008

The tumor suppressor SirT2 regulates cell cycle progression and genome stability by modulating the mitotic deposition of H4K20 methylation

artículo científico publicado en 2013

Three secretory phospholipase A(2) genes that map to human chromosome 1P35-36 are not mutated in individuals with attenuated adenomatous polyposis coli

artículo científico publicado en 1996

Tumor resident mesenchymal stromal cells endow naïve stromal cells with tumor-promoting properties

artículo científico publicado en 2013

Use of deoxyribonucleic acid probes to test for Yq11 deletions in males with spermatogenic arrest

scientific article published on 01 November 1987

Use of single (4B-2) and repetitive copy (pS4) deoxyribonucleic acid (DNA) probes to characterize translocated Y DNA in a pedigree with recurrent abortion

artículo científico publicado en 1987

Use of two different deoxyribonucleic acid probes to detect Y chromosome deoxyribonucleic acid in subjects with normal and altered Y chromosomes

artículo científico publicado en 1986

Using genetic information from candidate gene and genome-wide association studies in risk prediction for alcohol dependence

artículo científico publicado en 2013

Variants in nicotinic receptors and risk for nicotine dependence

artículo científico publicado en 2008

Variants located upstream of CHRNB4 on chromosome 15q25.1 are associated with age at onset of daily smoking and habitual smoking

artículo científico publicado en 2012

Variants near CHRNB3-CHRNA6 are associated with DSM-5 cocaine use disorder: evidence for pleiotropy

artículo científico publicado en 2014

Virtual Boot Camp: COVID-19 evolution and structural biology

artículo científico publicado en 2020

X-rays induce distinct patterns of somatic mutation in fetal versus adult hematopoietic cells

artículo científico publicado en 2007

hsa-let-7c miRNA Regulates Synaptic and Neuronal Function in Human Neurons

artículo científico publicado en 2018

l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria.

artículo científico publicado en 2016

p38 MAPK regulates group IIa phospholipase A2 expression in interleukin-1beta -stimulated rat neonatal cardiomyocytes

artículo científico publicado en 2001

α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria

artículo científico publicado en 2017

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