Mostrando recursos 1 - 20 de 501

  1. Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination?

    Boutin, P.; Vasseur, F.; Samson, C.; Wahl, C.; Froguel, P.
    AIMS/HYPOTHESIS: Mutations in the hepatocyte nuclear factor (HNF)-1alpha and glucokinase (GCK) genes are the major causes of monogenic forms of Type II (non-insulin-dependent) diabetes mellitus (Maturity-Onset Diabetes of the Young subtypes, MODY). We evaluated the effectiveness of fluorescent single-strand conformation polymorphism (F-SSCP), denaturing high-performance liquid chromatography (DHPLC) and sequencing based mutation detection in the molecular diagnosis of MODY. Our goal is to identify a rapid, efficient and cost effective mutation detection method for the molecular diagnosis of MODY and other human genetic disorders. METHODS: We evaluated the accuracy of DHPLC in screening for MODY 2 and 3 mutations. In addition,...

  2. Connectivity of coral reef fish populations : estimates from transgenerational mass-marking of embryonic otoliths using enriched stable isotopes

    Thorrold, S.R.; Jones, G.; Planes, S.
    Theoretical studies suggest that connectivity plays a fundamental role in the dynamics, community structure, genetic diversity, and resiliency to human exploitation of coral reef fishes. Modeling efforts have been hindered, however, by the paucity of empirical estimates of, and processes controlling, population connectivity in coral reef ecosystems. While progress has been made with older life stages, connectivity as a function of larval dispersal remains unresolved for most marine populations. We have developed a new technique, based on transgenerational marking of embryonic otoliths with enriched barium isotopes, to quantify population connectivity in coral reef fishes. Gravid females are injected with an...

  3. Connectivity of coral reef fish populations : estimates from transgenerational mass-marking of embryonic otoliths using enriched stable isotopes

    Thorrold, S.R.; Jones, G.; Planes, S.
    Theoretical studies suggest that connectivity plays a fundamental role in the dynamics, community structure, genetic diversity, and resiliency to human exploitation of coral reef fishes. Modeling efforts have been hindered, however, by the paucity of empirical estimates of, and processes controlling, population connectivity in coral reef ecosystems. While progress has been made with older life stages, connectivity as a function of larval dispersal remains unresolved for most marine populations. We have developed a new technique, based on transgenerational marking of embryonic otoliths with enriched barium isotopes, to quantify population connectivity in coral reef fishes. Gravid females are injected with an...

  4. Forward Genetic Screening in Human Haploid Cells to Identify Host Factors Required for Virus and Toxin Entry

    Riblett, Amber M
    My dissertation research has focused on identifying host cellular factors required by the bunyavirus Rift Valley fever virus (RVFV), an RNA virus that causes disease in humans and animals, and the secreted Toxin B (TcdB) from Clostridium difficile, a bacterial pathogen that causes severe antibiotic-associated diarrheal disease. In 2015, the WHO named the ten emerging diseases most likely to cause severe outbreaks in the near future, and three are caused by bunyaviruses (including RVFV). Concern is likewise mounting about the increasing incidence, virulence, and antibiotic-resistance of C. difficile infection worldwide. A better understanding of the molecular details of the pathogenesis...

  5. Lei 10.639/2003, educação das relações étnico-raciais e ensino de biologia : o que fazem os professores?

    Sperotto, Patrícia Steiner
    As teorias raciais se tornaram bastante difundidas no século XIX e têm quase toda sua argumentação respaldada pela Ciência da época, do campo que hoje se denomina Biologia. No Brasil, estar teorias raciais foram adotadas após a abolição da escravização para legitimar a hierarquia social vigente. Já no século XX, avanços das pesquisas em genética humana mostraram que não há embasamento para uma divisão e classificação dos seres humanos em raças. Apesar disso, esta ideia parece permanecer no imaginário social, resultando numa sociedade racializada, na qual as relações étnico-raciais são desiguais. Como uma ação afirmativa de reparação por danos históricos,...

  6. Lei 10.639/2003, educação das relações étnico-raciais e ensino de biologia : o que fazem os professores?

    Sperotto, Patrícia Steiner
    As teorias raciais se tornaram bastante difundidas no século XIX e têm quase toda sua argumentação respaldada pela Ciência da época, do campo que hoje se denomina Biologia. No Brasil, estar teorias raciais foram adotadas após a abolição da escravização para legitimar a hierarquia social vigente. Já no século XX, avanços das pesquisas em genética humana mostraram que não há embasamento para uma divisão e classificação dos seres humanos em raças. Apesar disso, esta ideia parece permanecer no imaginário social, resultando numa sociedade racializada, na qual as relações étnico-raciais são desiguais. Como uma ação afirmativa de reparação por danos históricos,...

  7. A polymorphism in the haptoglobin, haptoglobin related protein locus is associated with risk of human sleeping sickness within Cameroonian populations

    Ofon, Elvis; Noyes, Harry; Mulindwa, Julius; Ilboudo, Hamidou; Simuunza, Martin; Ebo'o, Vincent; Njiokou, Flobert; Koffi, Mathurin; Bucheton, Bruno; Fogue, Pythagore; Hertz-Fowler, Christiane; MacLeod, Annette; Simo, Gustave
    Human African Trypanosomiasis (HAT) is a neglected disease targeted for elimination as a public health problem by 2020. Elimination requires a better understanding of the epidemiology and clinical evolution of HAT. In addition to the classical clinical evolution of HAT, asymptomatic carriers and spontaneous cure have been reported in West Africa. A genetic component to human susceptibility to HAT has been suggested to explain these newly observed responses to infection. In order to test for genetic associations with infection response, genetic polymorphism in 17 genes were tested (APOL1, IL1B, IL4, IL4R, IL6, IL8, IL12B, IL12RB1, IL10, TNFA, INFG, MIF, HLA-G,...

  8. Severe osteopenia in CFTR-null mice.

    Dif, Fariel; Marty, Caroline; Baudoin, Claude; De Vernejoul, Marie-Christine; Levi, Giovanni
    Osteoporosis is a common complication in cystic fibrosis (CF) patients. In this study, we performed a histomorphometric analysis of the bones of a mouse genetic model of human CF in which both copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are inactivated. We find that, even in the absence of obvious nutritional and therapeutic differences, the CFTR mutation is associated with severe osteopenia. Bone mineral density (BMD) of total body and of individual bones is significantly diminished. CFTR mutants display a striking significant (50%) reduction of cortical bone width and thinner trabeculae. Analysis of dynamic parameters indicates a...

  9. Exploring candidate Genes for Human Brain Diseases Based on a Brain-specific Gene Network

    Liu, Bing; Jiang, Tianzi; Ma, Songde; Zhao, Huizhi; Li, Jun; Jiang, Xingpeng; Zhang, Jing
    It is believed that large numbers of genes are involved in common human brain diseases. Here, we propose a novel computational strategy for simultaneously identifying multiple candidate genes for genetic human brain diseases from a brain-specific gene network-level perspective. By integrating diverse genomic and proteomic datasets based on Bayesian statistical model, we built a large-scale human brain-specific gene network. Based on this network and minor prior knowledge of a specific brain disease, we can effectively identify multiple candidate genes for this disease. When four known Alzheimer's disease genes were used as the prior knowledge, among the top 46 high-scoring genes...

  10. Interpreting the role of non-coding genetic variation in human disease

    Sarkar, Abhishek Kulshreshtha
    One of the fundamental goals of human genetics is to identify the genetic causes of human disease to ultimately design novel therapeutics. However, two challenges have become readily apparent. First, the majority of genomic regions associated with disease do not implicate protein-altering variants but might instead alter gene regulation, making interpretation and validation more difficult. Second, the genomic regions associated with disease explain a fraction of the variance of associated phenotypes, suggesting human diseases are highly polygenic and that many additional regions remain to be discovered and characterized. Here, we address these challenges by using functional annotation of the human...

  11. Interpreting the role of non-coding genetic variation in human disease

    Sarkar, Abhishek Kulshreshtha
    One of the fundamental goals of human genetics is to identify the genetic causes of human disease to ultimately design novel therapeutics. However, two challenges have become readily apparent. First, the majority of genomic regions associated with disease do not implicate protein-altering variants but might instead alter gene regulation, making interpretation and validation more difficult. Second, the genomic regions associated with disease explain a fraction of the variance of associated phenotypes, suggesting human diseases are highly polygenic and that many additional regions remain to be discovered and characterized. Here, we address these challenges by using functional annotation of the human...

  12. Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans

    Padmanabhan, Sandosh; Joe, Bina
    Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions that are causally associated with hypertension. In more recent times, genome-wide studies in humans have also begun to improve our understanding of the inheritance of polygenic forms of hypertension. Based on the chronological progression of research into the genetics of hypertension as the "structural backbone," this review catalogs and discusses the rat and human genetic elements mapped and implicated in blood pressure...

  13. Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans

    Padmanabhan, Sandosh; Joe, Bina
    Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions that are causally associated with hypertension. In more recent times, genome-wide studies in humans have also begun to improve our understanding of the inheritance of polygenic forms of hypertension. Based on the chronological progression of research into the genetics of hypertension as the "structural backbone," this review catalogs and discusses the rat and human genetic elements mapped and implicated in blood pressure...

  14. Novel MicroRNA Regulators of Atrial Natriuretic Peptide Production

    Wu, Connie; Arora, Pankaj; Agha, Obiajulu; Hurst, Liam A.; Allen, Kaitlin; Nathan, Daniel I.; Hu, Dongjian; Jiramongkolchai, Pawina; Smith, J. Gustav; Melander, Olle; Trenson, Sander; Janssens, Stefan P.; Domian, Ibrahim J.; Wang, Thomas J.; Bloch, Kenneth; Buys, Emmanuel; Bloch, Donald Bendit; Newton-Cheh, Christopher Holmes
    Atrial natriuretic peptide (ANP) has a central role in regulating blood pressure in humans. Recently, microRNA 425 (miR-425) was found to regulate ANP production by binding to the mRNA of NPPA, the gene encoding ANP. mRNAs typically contain multiple predicted microRNA (miRNA)-binding sites, and binding of different miRNAs may independently or coordinately regulate the expression of any given mRNA. We used a multifaceted screening strategy that integrates bioinformatics, next-generation sequencing data, human genetic association data, and cellular models to identify additional functional NPPA-targeting miRNAs. Two novel miRNAs, miR-155 and miR-105, were found to modulate ANP production in human cardiomyocytes and...

  15. Study of genetic reassortment between two human rotaviruses.

    Garbarg-Chenon, A.; Bricout, F.; Nicolas, J. C.
    International audience

  16. Human genetic polymorphisms in T1R1 and T1R3 taste receptor subunits affect their function.

    Raliou, Mariam; Grauso, Marta; Hoffmann, Brice; Schlegel-Le-Poupon, Claire; Nespoulous, Claude; Débat, Hélène; Belloir, Christine; Wiencis, Anna; Sigoillot, Maud; Bano, Singh Preet; Trotier, Didier; Pernollet, Jean-Claude; Montmayeur, Jean-Pierre; Faurion, Annick; Briand, Loïc
    International audience

  17. Impacts of obesity on the oro-sensory perception of lipids in Human

    Chevrot, Michael; Enderli, Géraldine; Gomes, Marlène; Passilly-Degrace, Patricia; Robin, Isabelle; Issanchou, Sylvie; Nicklaus, Sophie; Vergès, Bruno; Besnard, Philippe
    Accumulating evidences support the existence of a fatty acid taste both in rodents and humans. A recent study performed in lean subjects suggests the existence of a positive correlation between the oro-sensory perception of dietary lipids and body mass index (BMI) in Human. It was extrapolated that obesity might promote overconsumption of fatty foods by decreasing the detection of lipids in oral cavity. To explore this hypothesis, linoleic acid (LA) detection threshold was determined in lean (18>BMI <25, n=30) and obese (BMI>30, n=29) volunteers using a 3-alternative force choice ascending concentration presentation procedure in conditions known to minimize other sensory...

  18. ENVIRONMENTAL, GENETIC AND IMMUNOLOGICAL FACTORS IN HUMAN RESISTANCE TO SCHISTOSOMA-MANSONI

    PRATA, A; Dessein, AJ; COUISSINIER, P; DEMEURE, C; Rihet, Pascal; KOHLSTAEDT, S; CARNEIROCARVALHO, D; OUATTARA, M; GOUDOTCROZEL, V; Dessein, H; BOURGOIS, A; Abel, L; CARVALLO, EM
    International audience

  19. Overview of human genetic susceptibility to malaria: From parasitemia control to severe disease.

    Marquet, S.
    International audience

  20. Recent advances in the characterization of genetic factors involved in human susceptibility to infection by schistosomiasis

    Isnard, Amandine; Chevillard, Christophe
    International audience

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