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Jay Tischfield

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

TOP 3
Shao Changshun; Liang Li; Zhao Xin; Chen Yanping; Zheng Betty; Chen Jianmin; Luo Minjie; Tischfield Jay A
Mutagenesis in vivo in T cells of p21-deficient mice.
Wetherill Leah; Schuckit Marc A; Hesselbrock Victor; Xuei Xiaoling; Liang Tiebing; Dick Danielle M; Kramer John; Nurnberger John I; Tischfield Jay A; Porjesz Bernice; Edenberg Howard J; Foroud Tatiana
Neuropeptide Y receptor genes are associated with alcohol dependence, alcohol withdrawal phenotypes, and cocaine dependence.
Barrera-Oro Julio; Liu Tzu-Yang; Gorden Erin; Kucherlapati Raju; Shao Changshun; Tischfield Jay A
Role of the mismatch repair gene, Msh6, in suppressing genome instability and radiation-induced mutations.

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All Publications

2009: Shao Changshun; Liang Li; Zhao Xin; Chen Yanping; Zheng Betty; Chen Jianmin; Luo Minjie; Tischfield Jay A
Mutagenesis in vivo in T cells of p21-deficient mice.
Mutation research 2009;670(1-2):103-6.
2008: Wetherill Leah; Schuckit Marc A; Hesselbrock Victor; Xuei Xiaoling; Liang Tiebing; Dick Danielle M; Kramer John; Nurnberger John I; Tischfield Jay A; Porjesz Bernice; Edenberg Howard J; Foroud Tatiana
Neuropeptide Y receptor genes are associated with alcohol dependence, alcohol withdrawal phenotypes, and cocaine dependence.
Alcoholism, clinical and experimental research 2008;32(12):2031-40.
2008: Barrera-Oro Julio; Liu Tzu-Yang; Gorden Erin; Kucherlapati Raju; Shao Changshun; Tischfield Jay A
Role of the mismatch repair gene, Msh6, in suppressing genome instability and radiation-induced mutations.
Mutation research 2008;642(1-2):74-9.
2008: Liang Li; Deng Li; Nguyen Son C; Zhao Xin; Maulion Christopher D; Shao Changshun; Tischfield Jay A
Human DNA ligases I and III, but not ligase IV, are required for microhomology-mediated end joining of DNA double-strand breaks.
Nucleic acids research 2008;36(10):3297-310.
2008: Foroud Tatiana; Wetherill Leah Flury; Kramer John; Tischfield Jay A; Nurnberger John I; Schuckit Marc A; Xuei Xiaoling; Edenberg Howard J
The tachykinin receptor 3 is associated with alcohol and cocaine dependence.
Alcoholism, clinical and experimental research 2008;32(6):1023-30.
2008: Edenberg Howard J; Wang Jun; Tian Huijun; Pochareddy Sirisha; Xuei Xiaoling; Wetherill Leah; Goate Alison; Hinrichs Tony; Kuperman Samuel; Nurnberger John I; Schuckit Marc; Tischfield Jay A; Foroud Tatiana
A regulatory variation in OPRK1, the gene encoding the kappa-opioid receptor, is associated with alcohol dependence.
Human molecular genetics 2008;17(12):1783-9.
2008: Dick Danielle M; Aliev Fazil; Wang Jen C; Saccone Scott; Hinrichs Anthony; Bertelsen Sarah; Budde John; Saccone Nancy; Foroud Tatiana; Nurnberger John; Xuei Xiaoling; Conneally P M; Schuckit Marc; Almasy Laura; Crowe Raymond; Kuperman Samuel; Kramer John; Tischfield Jay A; Hesselbrock Victor; Edenberg Howard J; Porjesz Bernice; Rice John P; Bierut Laura; Goate Alison
A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9.
Biological psychiatry 2008;63(11):1047-53.
2008: Edenberg Howard J; Xuei Xiaoling; Wetherill Leah Flury; Bierut Laura; Bucholz Kathleen; Dick Danielle M; Hesselbrock Victor; Kuperman Sam; Porjesz Bernice; Schuckit Marc A; Tischfield Jay A; Almasy Laura A; Nurnberger J I; Foroud Tatiana
Association of NFKB1, which encodes a subunit of the transcription factor NF-kappaB, with alcohol dependence.
Human molecular genetics 2008;17(7):963-70.
2008: Xuei Xiaoling; Flury-Wetherill Leah; Almasy Laura; Bierut Laura; Tischfield Jay; Schuckit Marc; Nurnberger John I; Foroud Tatiana; Edenberg Howard J
Association analysis of genes encoding the nociceptin receptor (OPRL1) and its endogenous ligand (PNOC) with alcohol or illicit drug dependence.
Addiction biology 2008;13(1):80-7.
2007: Foroud Tatiana; Wetherill Leah Flury; Dick Danielle M; Hesselbrock Victor; Nurnberger John I; Kramer John; Tischfield Jay; Schuckit Marc; Bierut Laura J; Xuei Xiaoling; Edenberg Howard J
Lack of association of alcohol dependence and habitual smoking with catechol-O-methyltransferase.
Alcoholism, clinical and experimental research 2007;31(11):1773-9.
2007: Dick Danielle M; Wang Jen C; Plunkett Jevon; Aliev Fazil; Hinrichs Anthony; Bertelsen Sarah; Budde John P; Goldstein Elianna L; Kaplan Daniel; Edenberg Howard J; Nurnberger John; Hesselbrock Victor; Schuckit Marc; Kuperman Sam; Tischfield Jay; Porjesz Bernice; Begleiter Henri; Bierut Laura Jean; Goate Alison
Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1.
Alcoholism, clinical and experimental research 2007;31(10):1645-53.
2007: Liang Li; Deng Li; Mendonca Marc S; Chen Yanping; Zheng Betty; Stambrook Peter J; Shao Changshun; Tischfield Jay A
X-rays induce distinct patterns of somatic mutation in fetal versus adult hematopoietic cells.
DNA repair 2007;6(9):1380-5.
2007: Dick Danielle M; Agrawal Arpana; Wang Jen C; Hinrichs Anthony; Bertelsen Sarah; Bucholz Kathleen K; Schuckit Marc; Kramer John; Nurnberger John; Tischfield Jay; Edenberg Howard J; Goate Alison; Bierut Laura J
Alcohol dependence with comorbid drug dependence: genetic and phenotypic associations suggest a more severe form of the disorder with stronger genetic contribution to risk.
Addiction (Abingdon, England) 2007;102(7):1131-9.
2007: Liang Li; Mendonca Marc S; Deng Li; Nguyen Son C; Shao Changshun; Tischfield Jay A
Reduced apoptosis and increased deletion mutations at Aprt locus in vivo in mice exposed to repeated ionizing radiation.
Cancer research 2007;67(5):1910-7.
2007: Bahassi El Mustapha; Penner C Gail; Robbins Susan B; Tichy Elisia; Feliciano Estrella; Yin Moying; Liang Li; Deng Li; Tischfield Jay A; Stambrook Peter J
The breast cancer susceptibility allele CHEK2*1100delC promotes genomic instability in a knock-in mouse model.
Mutation research 2007;616(1-2):201-9.
2007: Hong Y; Cervantes R B; Tichy E; Tischfield J A; Stambrook P J
Protecting genomic integrity in somatic cells and embryonic stem cells.
Mutation research 2007;614(1-2):48-55.
2006: Xuei X; Dick D; Flury-Wetherill L; Tian H-J; Agrawal A; Bierut L; Goate A; Bucholz K; Schuckit M; Nurnberger J; Tischfield J; Kuperman S; Porjesz B; Begleiter H; Foroud T; Edenberg H J
Association of the kappa-opioid system with alcohol dependence.
Molecular psychiatry 2006;11(11):1016-24.
2006: Jones Kevin A; Porjesz Bernice; Almasy Laura; Bierut Laura; Dick Danielle; Goate Alison; Hinrichs Anthony; Rice John P; Wang Jen C; Bauer Lance O; Crowe Raymond; Foroud Tatiana; Hesselbrock Victor; Kuperman Samuel; Nurnberger John; O'Connor Sean J; Rohrbaugh John; Schuckit Marc A; Tischfield Jay; Edenberg Howard J; Begleiter Henri
A cholinergic receptor gene (CHRM2) affects event-related oscillations.
Behavior genetics 2006;36(5):627-39.
2006: Dick Danielle M; Bierut Laura; Hinrichs Anthony; Fox Louis; Bucholz Kathleen K; Kramer John; Kuperman Samuel; Hesselbrock Victor; Schuckit Marc; Almasy Laura; Tischfield Jay; Porjesz Bernice; Begleiter Henri; Nurnberger John; Xuei Xiaoling; Edenberg Howard J; Foroud Tatiana
The role of GABRA2 in risk for conduct disorder and alcohol and drug dependence across developmental stages.
Behavior genetics 2006;36(4):577-90.
2006: Edenberg Howard J; Xuei Xiaoling; Chen Hui-Ju; Tian Huijun; Wetherill Leah Flury; Dick Danielle M; Almasy Laura; Bierut Laura; Bucholz Kathleen K; Goate Alison; Hesselbrock Victor; Kuperman Samuel; Nurnberger John; Porjesz Bernice; Rice John; Schuckit Marc; Tischfield Jay; Begleiter Henri; Foroud Tatiana
Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis.
Human molecular genetics 2006;15(9):1539-49.
2006: Hinrichs Anthony L; Wang Jen C; Bufe Bernd; Kwon Jennifer M; Budde John; Allen Rebecca; Bertelsen Sarah; Evans Whitney; Dick Danielle; Rice John; Foroud Tatiana; Nurnberger John; Tischfield Jay A; Kuperman Samuel; Crowe Raymond; Hesselbrock Victor; Schuckit Marc; Almasy Laura; Porjesz Bernice; Edenberg Howard J; Begleiter Henri; Meyerhof Wolfgang; Bierut Laura J; Goate Alison M
Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence.
American journal of human genetics 2006;78(1):103-11.
2006: Dick Danielle M; Jones Kevin; Saccone Nancy; Hinrichs Anthony; Wang Jen C; Goate Alison; Bierut Laura; Almasy Laura; Schuckit Marc; Hesselbrock Victor; Tischfield Jay; Foroud Tatiana; Edenberg Howard; Porjesz Bernice; Begleiter Henri
Endophenotypes successfully lead to gene identification: results from the collaborative study on the genetics of alcoholism.
Behavior genetics 2006;36(1):112-26.
2006: Buyske Steven; Bates Marsha E; Gharani Neda; Matise Tara C; Tischfield Jay A; Manowitz Paul
Cognitive traits link to human chromosomal regions.
Behavior genetics 2006;36(1):65-76.
2006: Liang Li; Chen Jianmin; Vittal Ragini; Selvanayagam Zachariah E; McAteer James A; Deng Li; Tischfield Jay; Chin Khew-Voon; Sahota Amrik
Expression profiling of crystal-induced injury in human kidney epithelial cells.
Nephron. Physiology 2006;103(1):p53-62.
2005: Vernon Hilary J; Osborne Christine; Tzortzaki Eleni G; Yang Min; Chen Jianmen; Rittling Susan R; Denhardt David T; Buyske Steven; Bledsoe Sharon B; Evan Andrew P; Fairbanks Lynette; Simmonds H Anne; Tischfield Jay A; Sahota Amrik
Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity.
Kidney international 2005;68(3):938-47.
2005: Liang Li; Deng Li; Chen Yanping; Li Gloria C; Shao Changshun; Tischfield Jay A
Modulation of DNA end joining by nuclear proteins.
The Journal of biological chemistry 2005;280(36):31442-9.
2004: Shao Changshun; Deng Li; Chen Yanping; Kucherlapati Raju; Stambrook Peter J; Tischfield Jay A
Mlh1 mediates tissue-specific regulation of mitotic recombination.
Oncogene 2004;23(56):9017-24.
2004: Wang Jen C; Hinrichs Anthony L; Stock Heather; Budde John; Allen Rebecca; Bertelsen Sarah; Kwon Jennifer M; Wu William; Dick Danielle M; Rice John; Jones Kevin; Nurnberger John I; Tischfield Jay; Porjesz Bernice; Edenberg Howard J; Hesselbrock Victor; Crowe Ray; Schuckit Mark; Begleiter Henri; Reich Theodore; Goate Alison M; Bierut Laura J
Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome.
Human molecular genetics 2004;13(17):1903-11.
2004: Jones Kevin A; Porjesz Bernice; Almasy Laura; Bierut Laura; Goate Alison; Wang Jen C; Dick Danielle M; Hinrichs Anthony; Kwon Jennifer; Rice John P; Rohrbaugh John; Stock Heather; Wu William; Bauer Lance O; Chorlian David B; Crowe Raymond R; Edenberg Howard J; Foroud Tatiana; Hesselbrock Victor; Kuperman Samuel; Nurnberger Jr John; O'Connor Sean J; Schuckit Marc A; Stimus Arthur T; Tischfield Jay A; Reich Theodore; Begleiter Henri
Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: implications for human brain dynamics and cognition.
International journal of psychophysiology : official journal of the International Organization of Psychophysiology 2004;53(2):75-90.
2004: Berrettini Wade; Bierut Laura; Crowley Thomas J; Cubells Joseph F; Frascella Joseph; Gelernter Joel; Hewitt John K; Kreek Mary Jeanne; Lachman Herb; Leppert Mark; Li Ming D; Lachman Herb; Leppert Mark; Li Ming D; Madden Pamela; Miner Cindy; Pollock Jonathan D; Pomerleau Ovide; Rice John P; Rutter Joni L; Shurtleff David; Swan Gary E; Tischfield Jay A; Tsuang Ming; Uhl George R; Vanyukov Michael; Volkow Nora D; Wanke Kay
Setting priorities for genomic research.
Science (New York, N.Y.) 2004;304(5676):1445-7; author reply 1445-7.
2003: Tzortzaki Eleni G; Tischfield Jay A; Sahota Amrik; Siafakas Nikolaos M; Gordon Marion K; Gerecke Donald R
Expression of FACIT collagens XII and XIV during bleomycin-induced pulmonary fibrosis in mice.
The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology 2003;275(2):1073-80.
2003: Tzortzaki Eleni G; Yang Min; Glass Dayna; Deng Li; Evan Andrew P; Bledsoe Sharon B; Stambrook Peter J; Sahota Amrik; Tischfield Jay A
Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease.
Urological research 2003;31(4):257-61.
2003: Tischfield Jay A; Shao Changshun
Somatic recombination redux.
Nature genetics 2003;33(1):5-6.
2002: Tzortzaki Eleni G; Glass Dayna; Yang Min; Evan Andrew P; Bledsoe Sharon B; Stambrook Peter J; Sahota Amrik; Tischfield Jay A
Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2002;50(12):1663-9.
2002: Liang Li; Shao Changshun; Deng Li; Mendonca Marc S; Stambrook Peter J; Tischfield Jay A
Radiation-induced genetic instability in vivo depends on p53 status.
Mutation research 2002;502(1-2):69-80.
2002: Shao Changshun; Yin Moying; Deng Li; Stambrook Peter J; Doetschman Thomas; Tischfield Jay A
Loss of heterozygosity and point mutation at Aprt locus in T cells and fibroblasts of Pms2-/- mice.
Oncogene 2002;21(18):2840-5.
2002: Cervantes Rachel B; Stringer James R; Shao Changshun; Tischfield Jay A; Stambrook Peter J
Embryonic stem cells and somatic cells differ in mutation frequency and type.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(6):3586-90.
2002: Porjesz Bernice; Almasy Laura; Edenberg Howard J; Wang Kongming; Chorlian David B; Foroud Tatiana; Goate Alison; Rice John P; O'Connor Sean J; Rohrbaugh John; Kuperman Samuel; Bauer Lance O; Crowe Raymond R; Schuckit Marc A; Hesselbrock Victor; Conneally P Michael; Tischfield Jay A; Li Ting-Kai; Reich Theodore; Begleiter Henri
Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(6):3729-33.
2002: Degousee Norbert; Ghomashchi Farideh; Stefanski Eva; Singer Alan; Smart Brian P; Borregaard Niels; Reithmeier Reinhardt; Lindsay Thomas F; Lichtenberger Cornelia; Reinisch Walter; Lambeau Gerard; Arm Jonathan; Tischfield Jay; Gelb Michael H; Rubin Barry B
Groups IV, V, and X phospholipases A2s in human neutrophils: role in eicosanoid production and gram-negative bacterial phospholipid hydrolysis.
The Journal of biological chemistry 2002;277(7):5061-73.
2002: Bierut Laura Jean; Saccone Nancy L; Rice John P; Goate Alison; Foroud Tatiana; Edenberg Howard; Almasy Laura; Conneally P Michael; Crowe Raymond; Hesselbrock Victor; Li T K; Nurnberger John; Porjesz Bernice; Schuckit Marc A; Tischfield Jay; Begleiter Henri; Reich Theodore
Defining alcohol-related phenotypes in humans. The Collaborative Study on the Genetics of Alcoholism.
Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism 2002;26(3):208-13.
2002: Wang Li; Raikwar Nandita; Yang Min; Deng Li; McAteer James A; Stambrook Peter J; Sahota Amrik; Tischfield Jay A
Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells.
Experimental nephrology 2002;10(5-6):365-73.
2001: Degousee N; Stefanski E; Lindsay T F; Ford D A; Shahani R; Andrews C A; Thuerauf D J; Glembotski C C; Nevalainen T J; Tischfield J; Rubin B B
p38 MAPK regulates group IIa phospholipase A2 expression in interleukin-1beta -stimulated rat neonatal cardiomyocytes.
The Journal of biological chemistry 2001;276(47):43842-9.
2001: Evan A P; Bledsoe S B; Connors B A; Deng L; Liang L; Shao C; Fineberg N S; Grynpas M D; Stambrook P J; Youzhi S; Sahota A; Tischfield J A
Sequential analysis of kidney stone formation in the Aprt knockout mouse.
Kidney international 2001;60(3):910-23.
2001: Shao C; Stambrook P J; Tischfield J A
Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains.
Nature genetics 2001;28(2):169-72.
2001: Deng L; Yang M; Fründ S; Wessel T; De Abreu R A; Tischfield J A; Sahota A
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 2001;72(3):260-4.
2000: Wang L; Raikwar N; Deng L; Yang M; Liang L; Shao C; Evan A P; Stambrook P J; Sahota A; Tischfield J A
Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis.
Kidney international 2000;58(2):528-36.
2000: Rose J A; Yates P A; Simpson J; Tischfield J A; Stambrook P J; Turker M S
Biallelic methylation and silencing of mouse Aprt in normal kidney cells.
Cancer research 2000;60(13):3404-8.
2000: Shao C; Deng L; Henegariu O; Liang L; Stambrook P J; Tischfield J A
Chromosome instability contributes to loss of heterozygosity in mice lacking p53.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(13):7405-10.
2000: Liang L; Deng L; Shao C; Stambrook P J; Tischfield J A
In vivo loss of heterozygosity in T-cells of B6C3F1 Aprt(+/-) mice.
Environmental and molecular mutagenesis 2000;35(2):150-7.
1999: Turker M S; Gage B M; Rose J A; Ponomareva O N; Tischfield J A; Stambrook P J; Barlow C; Wynshaw-Boris A
Solid tissues removed from ATM homozygous deficient mice do not exhibit a mutator phenotype for second-step autosomal mutations.
Cancer research 1999;59(19):4781-3.
1999: Wang L; Ou X; Sebesta I; Vondrak K; Krijt J; Elleder M; Poupetova H; Ledvinova J; Zeman J; Simmonds H A; Tischfield J A; Sahota A
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Molecular genetics and metabolism 1999;68(1):78-85.
1999: Shao C; Deng L; Henegariu O; Liang L; Raikwar N; Sahota A; Stambrook P J; Tischfield J A
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 1999;96(16):9230-5.
1999: Bolante-Cervantes R; Li S; Sahota A; Tischfield J A; Zwerdling T; Stambrook P J
Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model.
Experimental hematology 1999;27(8):1346-52.
1999: Turker M S; Gage B M; Rose J A; Elroy D; Ponomareva O N; Stambrook P J; Tischfield J A
A novel signature mutation for oxidative damage resembles a mutational pattern found commonly in human cancers.
Cancer research 1999;59(8):1837-9.
1998: Foroud T; Bucholz K K; Edenberg H J; Goate A; Neuman R J; Porjesz B; Koller D L; Rice J; Reich T; Bierut L J; Cloninger C R; Nurnberger J I; Li T K; Conneally P M; Tischfield J A; Crowe R; Hesselbrock V; Schuckit M; Begleiter H
Linkage of an alcoholism-related severity phenotype to chromosome 16.
Alcoholism, clinical and experimental research 1998;22(9):2035-42.
1998: Edenberg H J; Reynolds J; Koller D L; Begleiter H; Bucholz K K; Conneally P M; Crowe R; Goate A; Hesselbrock V; Li T K; Nurnberger J I; Porjesz B; Reich T; Rice J P; Schuckit M; Tischfield J A; Foroud T
A family-based analysis of whether the functional promoter alleles of the serotonin transporter gene HTT affect the risk for alcohol dependence.
Alcoholism, clinical and experimental research 1998;22(5):1080-5.
1998: Bond C; LaForge K S; Tian M; Melia D; Zhang S; Borg L; Gong J; Schluger J; Strong J A; Leal S M; Tischfield J A; Kreek M J; Yu L
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 States of America 1998;95(16):9608-13.
1998: Stockelman M G; Lorenz J N; Smith F N; Boivin G P; Sahota A; Tischfield J A; Stambrook P J
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
The American journal of physiology 1998;275(1 Pt 2):F154-63.
1998: Cloninger C R; Van Eerdewegh P; Goate A; Edenberg H J; Blangero J; Hesselbrock V; Reich T; Nurnberger J; Schuckit M; Porjesz B; Crowe R; Rice J P; Foroud T; Przybeck T R; Almasy L; Bucholz K; Wu W; Shears S; Carr K; Crose C; Willig C; Zhao J; Tischfield J A; Li T K; Conneally P M
Anxiety proneness linked to epistatic loci in genome scan of human personality traits.
American journal of medical genetics 1998;81(4):313-7.
1998: Reich T; Edenberg H J; Goate A; Williams J T; Rice J P; Van Eerdewegh P; Foroud T; Hesselbrock V; Schuckit M A; Bucholz K; Porjesz B; Li T K; Conneally P M; Nurnberger J I; Tischfield J A; Crowe R R; Cloninger C R; Wu W; Shears S; Carr K; Crose C; Willig C; Begleiter H
Genome-wide search for genes affecting the risk for alcohol dependence.
American journal of medical genetics 1998;81(3):207-15.
1998: Edenberg H J; Foroud T; Koller D L; Goate A; Rice J; Van Eerdewegh P; Reich T; Cloninger C R; Nurnberger J I; Kowalczuk M; Wu B; Li T K; Conneally P M; Tischfield J A; Wu W; Shears S; Crowe R; Hesselbrock V; Schuckit M; Porjesz B; Begleiter H
A family-based analysis of the association of the dopamine D2 receptor (DRD2) with alcoholism.
Alcoholism, clinical and experimental research 1998;22(2):505-12.
1997: Tischfield J A
Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination.
American journal of human genetics 1997;61(5):995-9.
1997: Tischfield J A
A reassessment of the low molecular weight phospholipase A2 gene family in mammals.
The Journal of biological chemistry 1997;272(28):17247-50.
1997: Tian M; Broxmeyer H E; Fan Y; Lai Z; Zhang S; Aronica S; Cooper S; Bigsby R M; Steinmetz R; Engle S J; Mestek A; Pollock J D; Lehman M N; Jansen H T; Ying M; Stambrook P J; Tischfield J A; Yu L
Altered hematopoiesis, behavior, and sexual function in mu opioid receptor-deficient mice.
The Journal of experimental medicine 1997;185(8):1517-22.
1997: Gupta P K; Sahota A; Boyadjiev S A; Bye S; Shao C; O'Neill J P; Hunter T C; Albertini R J; Stambrook P J; Tischfield J A
High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination.
Cancer research 1997;57(6):1188-93.
1997: Chen J; Shao C; Lazar V; Srivastava C H; Lee W H; Tischfield J A
Localization of group IIc low molecular weight phospholipase A2 mRNA to meiotic cells in the mouse.
Journal of cellular biochemistry 1997;64(3):369-75.
1997: Gupta P K; Shao C; Zhu Y; Sahota A; Tischfield J A
Loss of heterozygosity analysis in a human fibrosarcoma cell line.
Cytogenetics and cell genetics 1997;76(3-4):214-8.
1996: Balboa M A; Balsinde J; Winstead M V; Tischfield J A; Dennis E A
Novel group V phospholipase A2 involved in arachidonic acid mobilization in murine P388D1 macrophages.
The Journal of biological chemistry 1996;271(50):32381-4.
1996: Engle S J; Womer D E; Davies P M; Boivin G; Sahota A; Simmonds H A; Stambrook P J; Tischfield J A
HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.
Human molecular genetics 1996;5(10):1607-10.
1996: Engle S J; Stockelman M G; Chen J; Boivin G; Yum M N; Davies P M; Ying M Y; Sahota A; Simmonds H A; Stambrook P J; Tischfield J A
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(11):5307-12.
1996: Tischfield J A; Xia Y R; Shih D M; Klisak I; Chen J; Engle S J; Siakotos A N; Winstead M V; Seilhamer J J; Allamand V; Gyapay G; Lusis A J
Low-molecular-weight, calcium-dependent phospholipase A2 genes are linked and map to homologous chromosome regions in mouse and human.
Genomics 1996;32(3):328-33.
1996: Spirio L N; Kutchera W; Winstead M V; Pearson B; Kaplan C; Robertson M; Lawrence E; Burt R W; Tischfield J A; Leppert M F; Prescott S M; White R
Three secretory phospholipase A(2) genes that map to human chromosome 1P35-36 are not mutated in individuals with attenuated adenomatous polyposis coli.
Cancer research 1996;56(5):955-8.
1996: Shao C; Gupta P K; Sun Y; Sahota A; Tischfield J A
Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.
Cytogenetics and cell genetics 1996;75(4):216-21.
1996: Stambrook P J; Shao C; Stockelman M; Boivin G; Engle S J; Tischfield J A
APRT: a versatile in vivo resident reporter of local mutation and loss of heterozygosity.
Environmental and molecular mutagenesis 1996;28(4):471-82.
1996: Boyadjiev S A; Sahota A; Tischfield J A
Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene.
Human mutation 1996;8(3):214-5.
1995: Allamand V; Broux O; Bourg N; Richard I; Tischfield J A; Hodes M E; Conneally P M; Fardeau M; Jackson C E; Beckmann J S
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.
Human molecular genetics 1995;4(3):459-63.
1995: Zhu Y; Bye S; Stambrook P J; Tischfield J A
Aflatoxin B1, 2-aminoanthracene, and 7,12-dimethylbenz[a]anthracene-induced frameshift mutations in human APRT.
Environmental and molecular mutagenesis 1995;26(3):234-9.
1994: Chen J; Engle S J; Seilhamer J J; Tischfield J A
Cloning, expression and partial characterization of a novel rat phospholipase A2.
Biochimica et biophysica acta 1994;1215(1-2):115-20.
1994: Chen J; Engle S J; Seilhamer J J; Tischfield J A
Cloning and characterization of novel rat and mouse low molecular weight Ca(2+)-dependent phospholipase A2s containing 16 cysteines.
The Journal of biological chemistry 1994;269(37):23018-24.
1994: Bye S; Mallmann R; Duley J; Simmonds H A; Chen J; Tischfield J A; Sahota A
Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.
The Clinical investigator 1994;72(7):550-3.
1994: Sahota A; Chen J; Boyadjiev S A; Gault M H; Tischfield J A
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
Human molecular genetics 1994;3(5):817-8.
1994: Zhu Y; Bye S; Stambrook P J; Tischfield J A
Single-base deletion induced by benzo[a]pyrene diol epoxide at the adenine phosphoribosyltransferase locus in human fibrosarcoma cell lines.
Mutation research 1994;321(1-2):73-9.
1994: Chen J; Engle S J; Seilhamer J J; Tischfield J A
Cloning and recombinant expression of a novel human low molecular weight Ca(2+)-dependent phospholipase A2.
The Journal of biological chemistry 1994;269(4):2365-8.
1994: Sahota A; Chen J; Bye S; Jaing J; Berenyi M; Fekete G; Tischfield J A
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.
Human mutation 1994;3(3):315-7.
1994: Sahota A; Bye S; Chen J; Khattar N H; Turker M S; Moro F; Simmonds H A; Emmerson B T; Gordon R B; Tischfield J A
Molecular characterization of a novel mutation in APRT heterozygotes.
Advances in experimental medicine and biology 1994;370():675-8.
1994: Bye S; Sahota A; Chen J; Tischfield J A
Analysis of APRT mutations by reverse-transcription PCR.
Advances in experimental medicine and biology 1994;370():671-4.
1994: Tischfield J A; Engle S J; Gupta P K; Bye S; Boyadjiev S; Shao C; O'Neill P; Albertini R J; Stambrook P J; Sahota A S
Germline and somatic mutation at the APRT locus of mice and man.
Advances in experimental medicine and biology 1994;370():661-4.
1994: Boyadjiev S A; Sahota A; Tischfield J A
Identification of polymorphic markers flanking the human APRT gene.
Advances in experimental medicine and biology 1994;370():657-60.
1994: Gupta P K; Sahota A; Boyadjiev S A; Bye S; O'Neill J P; Hunter T C; Albertini R J; Tischfield J A
Analysis of in vivo somatic mutations at the APRT locus.
Advances in experimental medicine and biology 1994;370():653-6.
1993: Chen J; Sahota A; Martin G F; Hakoda M; Kamatani N; Stambrook P J; Tischfield J A
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.
Mutation research 1993;287(2):217-25.
1993: Fye K H; Sahota A; Hancock D C; Gelb A B; Chen J; Sparks J W; Sibley R K; Tischfield J A
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Archives of internal medicine 1993;153(6):767-70.
1993: Siakotos A N; van Kuijk F J; Tischfield J A
Elevated levels of neutrophil 4-hydroxynonenal in canine neuronal ceroid-lipofuscinosis and human immortalized lymphocytes of NCL patients.
Journal of inherited metabolic disease 1993;16(2):323-9.
1993: Zhu Y; Stambrook P J; Tischfield J A
Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus.
Molecular carcinogenesis 1993;8(3):138-44.
1992: Gelb A B; Fye K H; Tischfield J A; Sahota A S; Sparks J W; Hancock D C; Sibley R K
Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis.
Human pathology 1992;23(9):1081-5.
1992: Young K; Foroud T; Williams P; Jackson C E; Beckmann J S; Cohen D; Conneally P M; Tischfield J; Hodes M E
Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15.
Genomics 1992;13(4):1370-1.
1992: Bertino A M; Tischfield J A; Stambrook P J
Reconstitution of an episomal mouse aprt gene as a consequence of recombination.
Molecular & general genetics : MGG 1992;232(1):24-32.
1991: Chen J; Sahota A; Laxdal T; Scrine M; Bowman S; Cui C; Stambrook P J; Tischfield J A
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
American journal of human genetics 1991;49(6):1306-11.
1991: Chen J; Sahota A; Stambrook P J; Tischfield J A
Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase.
Mutation research 1991;249(1):169-76.
1991: Sahota A; Chen J; Behzadian M A; Ravindra R; Takeuchi H; Stambrook P J; Tischfield J A
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.
American journal of human genetics 1991;48(5):983-9.
1991: Sahota A; Chen J; Stambrook P J; Tischfield J A
Mutational basis of adenine phosphoribosyltransferase deficiency.
Advances in experimental medicine and biology 1991;309B():73-6.
1990: Schaff D A; Jarrett R A; Dlouhy S R; Ponniah S; Stockelman M; Stambrook P J; Tischfield J A
Mouse transgenes in human cells detect specific base substitutions.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(21):8675-9.
1990: Sahota A; Chen J; Asaki K; Takeuchi H; Stambrook P J; Tischfield J A
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.
Nucleic acids research 1990;18(19):5915-6.
1989: Dlouhy S R; Schaff D A; Trofatter J A; Liu H S; Stambrook P J; Tischfield J A
Denaturing gradient gel analysis of single-base substitutions at a mouse adenine phosphoribosyltransferase splice acceptor site.
Molecular carcinogenesis 1989;2(4):217-25.
1988: Dush M K; Briggs M R; Royce M E; Schaff D A; Khan S A; Tischfield J A; Stambrook P J
Identification of DNA sequences required for mouse APRT gene expression.
Nucleic acids research 1988;16(17):8509-24.
1987: Tho S P; Behzadian A; Byrd J R; Tischfield J A; McDonough P G
Use of deoxyribonucleic acid probes to test for Yq11 deletions in males with spermatogenic arrest.
Fertility and sterility 1987;48(5):858-60.
1987: Tho S P; Tischfield J A; McDonough P G
Use of single (4B-2) and repetitive copy (pS4) deoxyribonucleic acid (DNA) probes to characterize translocated Y DNA in a pedigree with recurrent abortion.
Fertility and sterility 1987;48(3):428-32.
1987: Jung V; Rashidbaigi A; Jones C; Tischfield J A; Shows T B; Pestka S
Human chromosomes 6 and 21 are required for sensitivity to human interferon gamma.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(12):4151-5.
1987: Broderick T P; Schaff D A; Bertino A M; Dush M K; Tischfield J A; Stambrook P J
Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(10):3349-53.
1986: Dush M K; Tischfield J A; Khan S A; Feliciano E; Sikela J M; Kozak C A; Stambrook P J
An unusual adenine phosphoribosyltransferase pseudogene is syntenic with its functional gene and is flanked by highly polymorphic DNAs.
Molecular and cellular biology 1986;6(12):4161-7.
1986: Butler M G; Dev V G; Phillips J A; Tho S P; Trill J J; Tischfield J A; McDonough P G
A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe.
Fertility and sterility 1986;46(4):718-20.
1986: McDonough P G; Tho S P; Trill J J; Byrd J R; Reindollar R H; Tischfield J A
Use of two different deoxyribonucleic acid probes to detect Y chromosome deoxyribonucleic acid in subjects with normal and altered Y chromosomes.
American journal of obstetrics and gynecology 1986;154(4):737-48.
1986: Rashidbaigi A; Langer J A; Jung V; Jones C; Morse H G; Tischfield J A; Trill J J; Kung H F; Pestka S
The gene for the human immune interferon receptor is located on chromosome 6.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(2):384-8.
1986: Turker M S; Tischfield J A; Rabinovitch P; Stambrook P J; Trill J J; Smith A C; Ogburn C E; Martin G M
Differentiation alters the unstable expression of adenine phosphoribosyltransferase in mouse teratocarcinoma cells.
Journal of experimental pathology 1986;2(4):299-311.
1985: Dush M K; Sikela J M; Khan S A; Tischfield J A; Stambrook P J
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.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(9):2731-5.
1984: Stambrook P J; Dush M K; Trill J J; Tischfield J A
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.
Somatic cell and molecular genetics 1984;10(4):359-67.
1984: Srivatsan E S; Stanbridge E J; Saxon P J; Stambrook P J; Trill J J; Tischfield J A
Plasmid, phage, and genomic DNA-mediated transfer and expression of prokaryotic and eukaryotic genes in cultured human cells.
Cytogenetics and cell genetics 1984;38(3):227-34.
1983: Sikela J M; Khan S A; Feliciano E; Trill J; Tischfield J A; Stambrook P J
Cloning and expression of a mouse adenine phosphoribosyltransferase gene.
Gene 1983;22(2-3):219-28.
1982: Tischfield J A; Trill J J; Lee Y I; Coy K; Taylor M W
Genetic instability at the adenine phosphoribosyltransferase locus in mouse L cells.
Molecular and cellular biology 1982;2(3):250-7.

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