المؤلفون: Parmar, Priyanka, Lowry, Estelle, Cugliari, Giovanni, Suderman, Matthew, Wilson, Rory, Karhunen, Ville, Andrew, Toby, Wiklund, Petri, Wielscher, Matthias, Guarrera, Simonetta, Teumer, Alexander, Lehne, Benjamin, Milani, Lili, de Klein, Niek, Mishra, Pashupati P., Melton, Phillip E., Mandaviya, Pooja R., Kasela, Silva, Nano, Jana, Zhang, Weihua, Zhang, Yan, Uitterlinden, Andre G., Peters, Annette, Schöttker, Ben, Gieger, Christian, Anderson, Denise, Boomsma, Dorret I., Grabe, Hans J., Panico, Salvatore, Veldink, Jan H., van Meurs, Joyce B.J., van den Berg, Leonard, Beilin, Lawrence J., Franke, Lude, Loh, Marie, van Greevenbroek, Marleen M.J., Nauck, Matthias, Kähönen, Mika, Hurme, Mikko A., Raitakari, Olli T., Franco, Oscar H., Slagboom, P.Eline, van der Harst, Pim, Kunze, Sonja, Felix, Stephan B., Zhang, Tao, Chen, Wei, Mori, Trevor A., Bonnefond, Amelie, Heijmans, Bastiaan T.

المساهمون: Horizon 2020

المصدر: eBioMedicine ; volume 38, page 206-216 ; ISSN 2352-3964

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1016/j.ebiom.2018.10.066Test
https://api.elsevier.com/content/article/PII:S2352396418304870?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352396418304870?httpAccept=text/plainTest

المؤلفون: Andrea Ciavattini, Marco Ivaldi, Cugliari Giovanni

المصدر: International Journal of Physical Education, Fitness and Sports.

مصطلحات موضوعية: geography, geography.geographical_feature_category, Rebreather, 030229 sport sciences, General Medicine, Dive computer, 030204 cardiovascular system & hematology, Heart rate analysis, Cave diving, Scuba diving, 03 medical and health sciences, 0302 clinical medicine, Oceanography, Cave, Geology, Closed circuit, Sampling interval

الوصف: The purpose of this study is to investigate the heart rate adaptations during deep dave diving with MCCR (mechanical closed circuit rebreather). Previous studies on this matter have not been conducted to the depths reached in this study and most of them have been conducted inside hyperbaric chambers trying to recreate the immersion conditions. The data collection took place during the exploration of two hydrogeological sites by a professional cave diver. The recordings were made using a SCUBAPRO GALILEO SOL® dive computer capable of monitoring the heart rate, with a sampling interval of 0,25 Hz. The data collected confirm a direct relationship between the increase in diving depth and the increase in the detected heart rate.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4d6d0ecb151483825674bc372311b40aTest
https://doi.org/10.34256/ijpefs2032Test

المؤلفون: Castroflorio, Tommaso, Bargellini, Andrea, Rossini, Gabriele, Cugliari, Giovanni, Deregibus, Andrea

المصدر: Archives of Oral Biology ; volume 83, page 25-32 ; ISSN 0003-9969

مصطلحات موضوعية: Cell Biology, General Dentistry, General Medicine, Otorhinolaryngology

الإتاحة: https://doi.org/10.1016/j.archoralbio.2017.07.002Test
https://api.elsevier.com/content/article/PII:S0003996917302145?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003996917302145?httpAccept=text/plainTest

المؤلفون: Alessandro Bisconti, Cornelia Di Gaetano, Giuseppe MATULLO, Cugliari Giovanni, ALESSIA RUSSO

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 19, Iss 3, p 688 (2018)

مصطلحات موضوعية: 0301 basic medicine, Genome-wide association study, Review, Essential hypertension, lcsh:Chemistry, lcsh:QH301-705.5, Exome, Spectroscopy, Genetics, High-Throughput Nucleotide Sequencing, blood pressure, Computer Science Applications1707 Computer Vision and Pattern Recognition, General Medicine, 3. Good health, Computer Science Applications, Hypertension, Trait, Biology, sequence kernel association test, Polymorphism, Single Nucleotide, Catalysis, exome microarray, Inorganic Chemistry, 03 medical and health sciences, Genetic variation, medicine, Animals, Humans, Genetic Predisposition to Disease, Physical and Theoretical Chemistry, burden test, Molecular Biology, Gene, Alleles, Genetic Association Studies, Genetic association, Blood pressure, Burden test, Exome microarray, Genome-wide association studies, Next-generation sequencing, Rare variants, Rare-variants association testing, Sequence kernel association test, Organic Chemistry, essential hypertension, Genetic Variation, rare variants, Heritability, medicine.disease, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, genome-wide association studies, rare-variants association testing, next-generation sequencing, Biomarkers, Genome-Wide Association Study

الوصف: Worldwide, hypertension still represents a serious health burden with nine million people dying as a consequence of hypertension-related complications. Essential hypertension is a complex trait supported by multifactorial genetic inheritance together with environmental factors. The heritability of blood pressure (BP) is estimated to be 30–50%. A great effort was made to find genetic variants affecting BP levels through Genome-Wide Association Studies (GWAS). This approach relies on the “common disease–common variant” hypothesis and led to the identification of multiple genetic variants which explain, in aggregate, only 2–3% of the genetic variance of hypertension. Part of the missing genetic information could be caused by variants too rare to be detected by GWAS. The use of exome chips and Next-Generation Sequencing facilitated the discovery of causative variants. Here, we report the advances in the detection of novel rare variants, genes, and/or pathways through the most promising approaches, and the recent statistical tests that have emerged to handle rare variants. We also discuss the need to further support rare novel variants with replication studies within larger consortia and with deeper functional studies to better understand how new genes might improve patient care and the stratification of the response to antihypertensive treatments.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0d01c6132558966bc87907ab0fb0e4Test
https://doi.org/10.3390/ijms19030688Test

المؤلفون: Castroflorio, Tommaso, Bargellini, Andrea, Rossini, Gabriele, Cugliari, Giovanni, Rainoldi, Alberto, Deregibus, Andrea

المصدر: Archives of Oral Biology ; volume 60, issue 11, page 1618-1624 ; ISSN 0003-9969

مصطلحات موضوعية: Cell Biology, General Dentistry, General Medicine, Otorhinolaryngology

الإتاحة: https://doi.org/10.1016/j.archoralbio.2015.08.014Test
https://api.elsevier.com/content/article/PII:S0003996915300315?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003996915300315?httpAccept=text/plainTest

المؤلفون: Petri Wiklund, Melanie Waldenberger, Lili Milani, Wei Chen, André G. Uitterlinden, Hans J. Grabe, Pim van der Harst, Shengxu Li, Pashupati P. Mishra, John C. Chambers, Rae-Chi Huang, Jaspal S. Kooner, Giovanni Cugliari, Lawrence J. Beilin, Joyce B. J. van Meurs, Mika Kähönen, Rory P. Wilson, Phillip E. Melton, P. Eline Slagboom, Benjamin Lehne, Matthias Nauck, Simonetta Guarrera, Sylvain Sebert, Giuseppe Matullo, Matthias Wielscher, Weihua Zhang, Tao Zhang, Yan Zhang, Mikko Hurme, Niek de Klein, Hermann Brenner, Marjo-Riitta Järvelin, Krista Fischer, Annette Peters, Silva Kasela, Trevor A. Mori, Taulant Muka, Terho Lehtimäki, Oscar H. Franco, Leonard H. van den Berg, Pooja R. Mandaviya, Toby Andrew, Matthew Suderman, Marie Loh, Niek Verweij, Lude Franke, Ville Karhunen, Priyanka Parmar, Wolfgang Rathmann, Alexander Teumer, Jana Nano, Sonja Kunze, Estelle Lowry, Denise Anderson, Christian Gieger, Philippe Froguel, Dorret I. Boomsma, Jan H. Veldink, Marleen M.J. van Greevenbroek, Caroline L Relton, Salvatore Panico, Bastiaan T. Heijmans, Amélie Bonnefond, Stephan B. Felix, Olli T. Raitakari, Ben Schöttker

المساهمون: Maastricht Centre for Systems Biology, Interne Geneeskunde, RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome, RS: FSE MaCSBio, Internal Medicine, Epidemiology, Lee Kong Chian School of Medicine (LKCMedicine), Biological Psychology, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Parmar, Priyanka, Lowry, Estelle, Cugliari, Giovanni, Suderman, Matthew, Wilson, Rory, Karhunen, Ville, Andrew, Toby, Wiklund, Petri, Wielscher, Matthia, Guarrera, Simonetta, Teumer, Alexander, Lehne, Benjamin, Milani, Lili, de Klein, Niek, Mishra, Pashupati P, Melton, Phillip E, Mandaviya, Pooja R, Kasela, Silva, Nano, Jana, Zhang, Weihua, Zhang, Yan, Uitterlinden, Andre G, Peters, Annette, Schöttker, Ben, Gieger, Christian, Anderson, Denise, Boomsma, Dorret I, Grabe, Hans J, Panico, Salvatore, Veldink, Jan H, van Meurs, Joyce B J, van den Berg, Leonard, Beilin, Lawrence J, Franke, Lude, Loh, Marie, van Greevenbroek, Marleen M J, Nauck, Matthia, Kähönen, Mika, Hurme, Mikko A, Raitakari, Olli T, Franco, Oscar H, Slagboom, P Eline, van der Harst, Pim, Kunze, Sonja, Schill, FELIX STEPHAN, Zhang, Tao, Chen, Wei, Mori, Trevor A, Bonnefond, Amelie, Heijmans, Bastiaan T, Muka, Taulant, Kooner, Jaspal S, Fischer, Krista, Waldenberger, Melanie, Froguel, Philippe, Huang, Rae-Chi, Lehtimäki, Terho, Rathmann, Wolfgang, Relton, Caroline L, Matullo, Giuseppe, Brenner, Hermann, Verweij, Niek, Li, Shengxu, Chambers, John C, Järvelin, Marjo-Riitta, Sebert, Sylvain, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Cardiovascular Centre (CVC), Stem Cell Aging Leukemia and Lymphoma (SALL)

المصدر: EBioMedicine
EBioMedicine, 38, 206-216. Elsevier
EBioMedicine, 38, 206-216
Boomsma, D I, for the BIOS Consortium & for the GLOBAL Meth QTL Consortium 2018, ' Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults ', Ebiomedicine, vol. 38, pp. 206-216 . https://doi.org/10.1016/j.ebiom.2018.10.066Test
Parmar, P & BIOS Consortium 2018, ' Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults ', EBioMedicine, vol. 38, pp. 206-216 . https://doi.org/10.1016/j.ebiom.2018.10.066Test
Parmar, P, Lowry, E, Cugliari, G, Suderman, M, Wilson, R, Karhunen, V, Andrew, T, Wiklund, P, Wielscher, M, Guarrera, S, Teumer, A, Lehne, B, Milani, L, de Klein, N, Mishra, P, Melton, P, Mandaviya, P, Kasela, S, Nano, J, Zhang, W, Zhang, Y, Uitterlinden, A, Peters, A, Schottker, B, Gieger, C, Anderson, D, Boomsma, D, Grabe, H, Panico, S, Veldink, J, van Meurs, J, van den Berg, L, Beilin, L, Franke, L, Loh, M, van Greevenbroek, M, Nauck, M, Kahonen, M, Hurme, M, Raitakari, O, Franco, O, Slagboom, P, van der Harst, P, Kunze, S, Felix, S, Zhang, T, Chen, W, Mori, T, Bonnefond, A, Heijmans, B, Muka, T, Kooner, J, Fischer, K, Waldenberger, M, Froguel, P, Huang, R, Lehtimaki, T, Rathman, W, Relton, C, Matullo, G, Brenner, H, Verweij, N, Li, S, Chambers, J, Jarvelin, M-R & Sebert, S 2018, ' Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults ', EBioMedicine, vol. 38, pp. 206-216 . https://doi.org/10.1016/j.ebiom.2018.10.066Test
Ebiomedicine, 38, 206-216. Elsevier BV
EBioMedicine 38, 206-216 (2018). doi:10.1016/j.ebiom.2018.10.066
EBioMedicine 38, 206-216 (2018)
EBioMedicine, 38, 206-216. ELSEVIER SCIENCE BV

مصطلحات موضوعية: Genetics and Molecular Biology (all), Male, Netherlands Twin Register (NTR), 0301 basic medicine, Research paper, GFI1 protein, human, GFI1-locus, raskaus, Research & Experimental Medicine, cardio-metabolic phenotypes, Biochemistry, Epigenesis, Genetic, GLOBAL Meth QTL Consortium, 0302 clinical medicine, Pregnancy, Smoke, 030212 general & internal medicine, maternal prenatal smoking, DNA METHYLATION, media_common, RISK, 2. Zero hunger, education.field_of_study, Smoking, ta3142, General Medicine, Middle Aged, genetics [Transcription Factors], 3. Good health, DNA-Binding Proteins, Phenotype, Medicine, Research & Experimental, CARDIOVASCULAR-DISEASE, epigenetiikka, Population Surveillance, Prenatal Exposure Delayed Effects, DNA methylation, Female, Disease Susceptibility, BIOS Consortium, Medical Genetics, Life Sciences & Biomedicine, Adult, medicine.medical_specialty, Offspring, Birth weight, Population, Mothers, genetics [DNA-Binding Proteins], ta3111, Methylation, General Biochemistry, Genetics and Molecular Biology, DIET, 03 medical and health sciences, Medicine, General & Internal, SDG 3 - Good Health and Well-being, tupakointi, General & Internal Medicine, Internal medicine, medicine, media_common.cataloged_instance, Humans, ddc:610, adverse effects [Maternal Exposure], EXPOSURE, Epigenetics, European union, education, Medicinsk genetik, EPIGENOME-WIDE ASSOCIATION, Biochemistry, Genetics and Molecular Biology (all), Science & Technology, business.industry, adverse effects [Smoking], DNA Methylation, ta3121, medicine.disease, BIRTH-WEIGHT, 030104 developmental biology, Endocrinology, Genetic Loci, sydän- ja verisuonitaudit, CpG Islands, CIGARETTE-SMOKING, CESSATION, Energy Metabolism, metabolism [Myocardium], business, Body mass index, Biomarkers, Transcription Factors

الوصف: Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult smoking. DNA methylation levels were analysed in relation to body mass index (BMI), waist circumference (WC), fasting glucose (FG), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), diastolic, and systolic blood pressure (BP).Findings: Lower DNA methylation at three out of eight GFI1-CpGs was associated with exposure to maternal prenatal smoking, whereas, all eight CpGs were associated with adult own smoking. Lower DNA methylation at cg14179389, the strongest maternal prenatal smoking locus, was associated with increased WC and BP when adjusted for sex, age, and adult smoking with Bonferroni-corrected P Interpretation: Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors. Fund: European Union's Horizon 2020 research and innovation programme under grant agreement no. 633595 DynaHEALTH. (c) 2018 The Authors. Published by Elsevier B.V.

وصف الملف: application/pdf; fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a6b430c483a243291b1142e2d449680Test