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  • Male  (32)
  • American Association for the Advancement of Science (AAAS)  (32)
  • American Institute of Physics
  • 2020-2022
  • 1995-1999  (32)
  • 1990-1994
  • 1980-1984
  • 1940-1944
  • 1996  (32)
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Publisher
  • American Association for the Advancement of Science (AAAS)  (32)
  • American Institute of Physics
Years
  • 2020-2022
  • 1995-1999  (32)
  • 1990-1994
  • 1980-1984
  • 1940-1944
Year
  • 1
    Publication Date: 1996-11-22
    Description: Despite its high prevalence, very little is known regarding genetic predisposition to prostate cancer. A genome-wide scan performed in 66 high-risk prostate cancer families has provided evidence of linkage to the long arm of chromosome 1 (1q24-25). Analysis of an additional set of 25 North American and Swedish families with markers in this region resulted in significant evidence of linkage in the combined set of 91 families. The data provide strong evidence of a major prostate cancer susceptibility locus on chromosome 1.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Smith, J R -- Freije, D -- Carpten, J D -- Gronberg, H -- Xu, J -- Isaacs, S D -- Brownstein, M J -- Bova, G S -- Guo, H -- Bujnovszky, P -- Nusskern, D R -- Damber, J E -- Bergh, A -- Emanuelsson, M -- Kallioniemi, O P -- Walker-Daniels, J -- Bailey-Wilson, J E -- Beaty, T H -- Meyers, D A -- Walsh, P C -- Collins, F S -- Trent, J M -- Isaacs, W B -- CA58236/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 1996 Nov 22;274(5291):1371-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉National Center for Human Genome Research, National Institutes of Health, Bethesda, MD, USA. jtrent@nchgr.nih.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8910276" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Aged ; Aged, 80 and over ; *Chromosome Mapping ; *Chromosomes, Human, Pair 1 ; Dinucleotide Repeats ; *Genes ; Genetic Linkage ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Likelihood Functions ; Male ; Middle Aged ; North America ; Oncogenes ; Pedigree ; Prostatic Neoplasms/*genetics ; Risk Factors ; Statistics, Nonparametric ; Sweden
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 1996-11-29
    Description: Transporter-facilitated uptake of serotonin (5-hydroxytryptamine or 5-HT) has been implicated in anxiety in humans and animal models and is the site of action of widely used uptake-inhibiting antidepressant and antianxiety drugs. Human 5-HT transporter (5-HTT) gene transcription is modulated by a common polymorphism in its upstream regulatory region. The short variant of the polymorphism reduces the transcriptional efficiency of the 5-HTT gene promoter, resulting in decreased 5-HTT expression and 5-HT uptake in lymphoblasts. Association studies in two independent samples totaling 505 individuals revealed that the 5-HTT polymorphism accounts for 3 to 4 percent of total variation and 7 to 9 percent of inherited variance in anxiety-related personality traits in individuals as well as sibships.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lesch, K P -- Bengel, D -- Heils, A -- Sabol, S Z -- Greenberg, B D -- Petri, S -- Benjamin, J -- Muller, C R -- Hamer, D H -- Murphy, D L -- New York, N.Y. -- Science. 1996 Nov 29;274(5292):1527-31.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Psychiatry, University of Wurzburg, Fuchsleinstrasse 15, 97080 Wurzburg, Germany. kplesch@rzbox.uni-wuerzburg.de〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8929413" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; Adult ; Alleles ; Anxiety Disorders/*genetics ; Carrier Proteins/*genetics ; Cell Line ; Female ; Genetic Markers ; Genotype ; Humans ; Male ; Membrane Glycoproteins/*genetics ; *Membrane Transport Proteins ; Middle Aged ; *Nerve Tissue Proteins ; Neurotic Disorders/*genetics ; Nuclear Family ; Personality Tests ; Phenotype ; *Polymorphism, Genetic ; *Promoter Regions, Genetic ; Serotonin/*metabolism ; Serotonin Plasma Membrane Transport Proteins ; Transfection
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
    Publication Date: 1996-05-31
    Description: A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mochizuki, T -- Wu, G -- Hayashi, T -- Xenophontos, S L -- Veldhuisen, B -- Saris, J J -- Reynolds, D M -- Cai, Y -- Gabow, P A -- Pierides, A -- Kimberling, W J -- Breuning, M H -- Deltas, C C -- Peters, D J -- Somlo, S -- DK02015/DK/NIDDK NIH HHS/ -- DK48383/DK/NIDDK NIH HHS/ -- New York, N.Y. -- Science. 1996 May 31;272(5266):1339-42.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Renal Division, Department of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8650545" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Animals ; Base Sequence ; Caenorhabditis elegans/chemistry/genetics ; Calcium Channels/chemistry/genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 4 ; Cloning, Molecular ; Consensus Sequence ; Crystallography, X-Ray ; Female ; Glycosylation ; Humans ; Male ; Membrane Proteins/chemistry/*genetics/physiology ; Molecular Sequence Data ; Mutation ; Pedigree ; Phenotype ; Polycystic Kidney, Autosomal Dominant/*genetics ; Polymorphism, Single-Stranded Conformational ; Proteins/chemistry/genetics ; Sodium Channels/chemistry/genetics ; TRPP Cation Channels
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 4
    Publication Date: 1996-03-15
    Description: Activation of the mesolimbic dopamine system is known to trigger relapse in animal models of cocaine-seeking behavior. We found that this "priming" effect was selectively induced by D2-like, and not by D1-like, dopamine receptor agonists in rats. Moreover, D1-like receptor agonists prevented cocaine-seeking behavior induced by cocaine itself, whereas D2-like receptor agonists enhanced this behavior. These results demonstrate an important dissociation between D1- and D2-like receptor processes in cocaine-seeking behavior and support further evaluation of D1-like receptor agonists as a possible pharmacotherapy for cocaine addiction.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Self, D W -- Barnhart, W J -- Lehman, D A -- Nestler, E J -- New York, N.Y. -- Science. 1996 Mar 15;271(5255):1586-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Molecular Psychiatry, Department of Psychiatry, Yale University School of Medicine, Connecticut Mental Health Center, New Haven, 06508, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8599115" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Behavior, Addictive/*etiology ; Behavior, Animal/drug effects ; Benzazepines/pharmacology ; Caffeine/pharmacology ; *Cocaine/administration & dosage ; Dopamine Agonists/*pharmacology ; Ergolines/pharmacology ; Male ; Motor Activity/drug effects ; Quinpirole ; Rats ; Rats, Sprague-Dawley ; Receptors, Dopamine D1/agonists/*physiology ; Receptors, Dopamine D2/agonists/*physiology ; Recurrence ; Reinforcement (Psychology) ; Substance-Related Disorders/*etiology ; Tetrahydronaphthalenes/pharmacology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 5
    Publication Date: 1996-02-02
    Description: Microsatellite DNA markers have been widely used as a tool for the detection of loss of heterozygosity and genomic instability in primary tumors. In a blinded study, urine samples from 25 patients with suspicious bladder lesions that had been identified cystoscopically were analyzed by this molecular method and by conventional cytology. Microsatellite changes matching those in the tumor were detected in the urine sediment of 19 of the 20 patients (95 percent) who were diagnosed with bladder cancer, whereas urine cytology detected cancer cells in 9 of 18 (50 percent) of the samples. These results suggest that microsatellite analysis, which in principle can be performed at about one-third the cost of cytology, may be a useful addition to current screening methods for detecting bladder cancer.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mao, L -- Schoenberg, M P -- Scicchitano, M -- Erozan, Y S -- Merlo, A -- Schwab, D -- Sidransky, D -- New York, N.Y. -- Science. 1996 Feb 2;271(5249):659-62.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Otolaryngology--Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2196, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8571131" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Aged ; Aged, 80 and over ; Chromosome Deletion ; Chromosomes, Human, Pair 9 ; DNA, Neoplasm/genetics/*urine ; Female ; Genetic Markers ; Heterozygote ; Humans ; Male ; *Microsatellite Repeats ; Middle Aged ; Neoplasm Staging ; Pilot Projects ; Polymerase Chain Reaction ; Urinary Bladder Neoplasms/*diagnosis/genetics/pathology/urine ; Urine/cytology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 6
    Publication Date: 1996-08-30
    Description: Tourette syndrome, a chronic tic disorder with autosomal dominant inheritance, exhibits considerable phenotypic variability even within monozygotic twin pairs. The origins of this variability remain unclear. Recent findings have implicated the caudate nucleus as a locus of pathology, and pharmacological evidence supports dopaminergic involvement. Within monozygotic twins discordant for Tourette syndrome severity, differences in D2 dopamine receptor binding in the head of the caudate nucleus predicted differences in phenotypic severity (r = 0.99); this relation was not observed in putamen. These data may link Tourette syndrome with a spectrum of neuropsychiatric disorders that involve associative striatal circuitry.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wolf, S S -- Jones, D W -- Knable, M B -- Gorey, J G -- Lee, K S -- Hyde, T M -- Coppola, R -- Weinberger, D R -- New York, N.Y. -- Science. 1996 Aug 30;273(5279):1225-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Clinical Brain Disorders Branch, National Institute of Mental Health (NIMH), National Institutes of Health, NIMH Neuroscience Center at St. Elizabeths, 2700 Martin Luther King Jr. Avenue, SE, Washington, DC 200.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8703056" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Benzamides/metabolism ; Caudate Nucleus/*metabolism ; *Diseases in Twins ; Dopamine Antagonists/metabolism ; Female ; Humans ; Male ; Phenotype ; Putamen/metabolism ; Pyrrolidines/metabolism ; Receptors, Dopamine D2/*metabolism ; Tomography, Emission-Computed, Single-Photon ; Tourette Syndrome/genetics/*metabolism ; *Twins, Monozygotic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 7
    Publication Date: 1996-07-12
    Description: An inheritable muscular hypertrophy was recently described in sheep and shown to be determined by the callipyge gene mapped to ovine chromosome 18. Here, the callipyge phenotype was found to be characterized by a nonmendelian inheritance pattern, referred to as polar overdominance, where only heterozygous individuals having inherited the callipyge mutation from their sire express the phenotype. The possible role of parental imprinting in the determinism of polar overdominance is envisaged.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Cockett, N E -- Jackson, S P -- Shay, T L -- Farnir, F -- Berghmans, S -- Snowder, G D -- Nielsen, D M -- Georges, M -- New York, N.Y. -- Science. 1996 Jul 12;273(5272):236-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Animal, Dairy and Veterinary Sciences, Utah State University, Logan, UT 84322-4700, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8662506" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromosome Mapping ; Crosses, Genetic ; Female ; *Genes, Dominant ; *Genomic Imprinting ; Genotype ; Heterozygote ; Lod Score ; Male ; Models, Genetic ; Muscle, Skeletal/*anatomy & histology ; Mutation ; Phenotype ; Sheep/*anatomy & histology/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 8
    Publication Date: 1996-06-21
    Description: Insulin-dependent diabetes mellitus (IDDM) is a multigenic autoimmune disease. An IDDM susceptibility gene was mapped to chromosome 2q34. This gene may act early in diabetogenesis, because "preclinical" individuals also showed linkage. Human leukocyte antigen (HLA)-disparate, but not HLA-identical, sibs showed linkage, which was even stronger in families with affected females. The genes encoding insulin-like growth factor-binding proteins 2 and 5 were mapped to a 4-megabase pair interval near this locus. These results indicate the existence of a gene that acts at an early stage in IDDM development, screening for which may identify a specific subset of at-risk individuals.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Morahan, G -- Huang, D -- Tait, B D -- Colman, P G -- Harrison, L C -- New York, N.Y. -- Science. 1996 Jun 21;272(5269):1811-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Victoria, Australia. morahan@wehi.edu.au〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8650584" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Autoantibodies/analysis ; Chromosome Mapping ; Chromosomes, Human, Pair 2/*genetics ; Diabetes Mellitus, Type 1/*genetics ; Female ; Gene Frequency ; *Genetic Linkage ; *Genetic Markers ; Genetic Predisposition to Disease ; HLA Antigens/genetics ; Humans ; Insulin-Like Growth Factor Binding Protein 2/genetics ; Insulin-Like Growth Factor Binding Protein 5/genetics ; Islets of Langerhans/immunology ; Male ; Mice ; Mice, Inbred NOD/genetics ; Microsatellite Repeats
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 9
    Publication Date: 1996-11-01
    Description: Granulocyte [polymorphonuclear leucocyte (PMN)] migration to sites of infection and subsequent activation is essential for host defense. Gene-targeted mice deficient for integrin-associated protein (IAP, also termed CD47) succumbed to Escherichia coli peritonitis at inoccula survived by heterozygous littermates. In vivo, they had an early defect in PMN accumulation at the site of infection. In vitro, IAP-/- PMNs were deficient in beta3 integrin-dependent ligand binding, activation of an oxidative burst, and Fc receptor-mediated phagocytosis. Thus, IAP plays a key role in host defense by participating both in PMN migration in response to bacterial infection and in PMN activation at extravascular sites.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lindberg, F P -- Bullard, D C -- Caver, T E -- Gresham, H D -- Beaudet, A L -- Brown, E J -- AI32177/AI/NIAID NIH HHS/ -- GM15483/GM/NIGMS NIH HHS/ -- GM38330/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1996 Nov 1;274(5288):795-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Infectious Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8864123" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Animals ; Antigens, CD/genetics/*immunology/physiology ; Antigens, CD47 ; Carrier Proteins/genetics/*immunology ; Cell Movement ; Escherichia coli Infections/*immunology ; Female ; Gene Targeting ; Heterozygote ; Immunity, Innate ; Integrin beta3 ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Molecular Sequence Data ; *Neutrophil Activation ; Neutrophils/*immunology/physiology ; Peptide Fragments/pharmacology ; Peritonitis/immunology ; Phagocytosis ; Phenotype ; Platelet Membrane Glycoproteins/physiology ; Respiratory Burst
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 10
    Publication Date: 1996-04-26
    Description: The rate of progression to disease varies considerably among individuals infected with human immunodeficiency virus-type 1 (HIV-1). Analyses of semiannual blood samples obtained from six infected men showed that a rapid rate of CD4 T cell loss was associated with relative evolutionary stasis of the HIV-1 quasispecies virus population. More moderate rates of CD4 T cell loss correlated with genetic evolution within three of four subjects. Consistent with selection by the immune constraints of these subjects, amino acid changes were apparent within the appropriate epitopes of human leukocyte antigen class I-restricted cytotoxic T lymphocytes. Thus, the evolutionary dynamics exhibited by the HIV-1 quasispecies virus populations under natural selection are compatible with adaptive evolution.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wolinsky, S M -- Korber, B T -- Neumann, A U -- Daniels, M -- Kunstman, K J -- Whetsell, A J -- Furtado, M R -- Cao, Y -- Ho, D D -- Safrit, J T -- AI32535/AI/NIAID NIH HHS/ -- AI35522/AI/NIAID NIH HHS/ -- AI45218/AI/NIAID NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1996 Apr 26;272(5261):537-42.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medicine, Northwestern University Medical School, Chicago, IL 60611, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8614801" target="_blank"〉PubMed〈/a〉
    Keywords: Acquired Immunodeficiency Syndrome/immunology/virology ; Amino Acid Sequence ; Animals ; *Antigenic Variation ; Base Sequence ; Biological Evolution ; CD4 Lymphocyte Count ; Cohort Studies ; Disease Progression ; HIV Antibodies/immunology ; HIV Antigens/immunology ; HIV Infections/*immunology/*virology ; HIV-1/*genetics/immunology/pathogenicity/physiology ; Histocompatibility Antigens Class I/immunology ; Humans ; Male ; Mice ; Mice, SCID ; Molecular Sequence Data ; Mutation ; Phenotype ; RNA, Viral/blood ; T-Lymphocytes, Cytotoxic/*immunology ; Virulence ; Virus Replication
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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