المؤلفون: Lee, Young Lim, Bosse, Mirte, Takeda, Haruko, Moreira, Gabriel Costa Monteiro, Karim, Latifa, Druet, Tom, Oget-Ebrad, Claire, Coppieters, Wouter, Veerkamp, Roel F, Groenen, Martien A M, Georges, Michel, Bouwman, Aniek C, Charlier, Carole

المصدر: BMC Genomics, 24 (1), 225 (2023-05-01)

مصطلحات موضوعية: Cattle, Copy number variants, Linkage disequilibrium, Structural variants, Whole genome sequencing, eQTL, POPDC3 protein, human, Muscle Proteins, Cell Adhesion Molecules, Female, Humans, Animals, Genotype, DNA Copy Number Variations, Haplotypes, Polymorphism, Single Nucleotide, Muscle Proteins/genetics, Cell Adhesion Molecules/genetics, Genome, Genomics/methods, Genetics, Biotechnology, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: https://link.springer.com/content/pdf/10.1186/s12864-023-09259-8.pdfTest; urn:issn:1471-2164

الوصول الحر: https://orbi.uliege.be/handle/2268/303481Test

المؤلفون: Ramirez-Martinez, Andres, Zhang, Yichi, van den Boogaard, Marie-Jose, McAnally, John R, Rodriguez-Caycedo, Cristina, Chai, Andreas C, Chemello, Francesco, Massink, Maarten Pg, Cuppen, Inge, Elferink, Martin G, van Es, Robert Jj, Janssen, Nard G, Walraven-van Oijen, Linda Pam, Liu, Ning, Bassel-Duby, Rhonda, van Jaarsveld, Richard H, Olson, Eric N

المساهمون: Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Neurologen, Brain, Genetica Medische Informatica, CMM Groep Burgering, Cancer, MS Mondziekten/Kaakchirurgie, Other research (not in main researchprogram)

مصطلحات موضوعية: Animals, Humans, Membrane Proteins/genetics, Mice, Mobius Syndrome, Muscle Proteins/genetics, Muscular Diseases/genetics, Pierre Robin Syndrome, General Medicine, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/446496Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/446496Test

المؤلفون: Erlenhardt, Nadine, Kletke, Olaf, Wohlfarth, Franziska, Komadowski, Marlene A., Clasen, Lukas, Makimoto, Hisaki, Rinné, Susanne, Kelm, Malte, Jungen, Christiane, Decher, Niels, Meyer, Christian, Klöcker, Nikolaj

المصدر: http://lobid.org/resources/99370672927306441Test#!, 472(12):1733-1742.

مصطلحات موضوعية: Bradycardia/physiopathology [MeSH], Action Potentials [MeSH], Heart Rate [MeSH], Mutation, Missense [MeSH], Myocytes, Cardiac/physiology [MeSH], Potassium Channels/metabolism [MeSH], Genetic variant, Bradycardia/diagnosis [MeSH], Ion channels, receptors and transporters, Cardiac/metabolism [MeSH], Sick sinus syndrome, PEX5R, Protein Transport [MeSH], Muscle Proteins/metabolism [MeSH], Muscle Proteins/genetics [MeSH], Female [MeSH], Funny current, Potassium Channels/genetics [MeSH], Humans [MeSH], Bradycardia/genetics [MeSH], Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/metabolism [MeSH], Rats [MeSH], Middle Aged [MeSH], Animals [MeSH], Rats, Wistar [MeSH], Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/genetics [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6467298Test; https://doi.org/10.1007/s00424-020-02481-3Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691308Test/

الإتاحة: https://doi.org/10.1007/s00424-020-02481-3Test
https://repository.publisso.de/resource/frl:6467298Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691308Test/

المؤلفون: Veith, Christine, Neghabian, Dariusch, Luitel, Himal, Wilhelm, Jochen, Egemnazarov, Bakytbek, Muntanjohl, Caja, Fischer, Jan-Hendrik, Dahal, Bhola Kumar, Schermuly, Ralph Theo, Ghofrani, Hossein Ardeschir, Grimminger, Friedrich, Fink, Ludger, Kwapiszewska, Grazyna, Weissmann, Norbert, Sydykov, Akylbek

المصدر: http://lobid.org/resources/99370671625606441Test#!, 115(2):17.

مصطلحات موضوعية: Ventricular Dysfunction, Right/physiopathology [MeSH], Mice, Inbred C57BL [MeSH], Heart Ventricles/physiopathology [MeSH], Original Contribution, LIM Domain Proteins/deficiency [MeSH], Right/pathology [MeSH], Right/genetics [MeSH], Hypertrophy, Right Ventricular/physiopathology [MeSH], Male [MeSH], Natriuretic Peptides/metabolism [MeSH], Four and-a-half LIM domain 1 protein, Calcium-Binding Proteins/metabolism [MeSH], Ryanodine Receptor Calcium Release Channel/metabolism [MeSH], Muscle Proteins/metabolism [MeSH], Disease Models, Animal [MeSH], LIM Domain Proteins/genetics [MeSH], Muscle Proteins/genetics [MeSH], Cytoskeletal proteins, Intracellular Signaling Peptides and Proteins/metabolism [MeSH], Fibrosis [MeSH], Right Ventricular/metabolism [MeSH], Ventricular Function, Right [MeSH], Intracellular Signaling Peptides and Proteins/deficiency [MeSH], Animals [MeSH], Knockout [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6466416Test; https://doi.org/10.1007/s00395-019-0767-5Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981327Test/

الإتاحة: https://doi.org/10.1007/s00395-019-0767-5Test
https://repository.publisso.de/resource/frl:6466416Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981327Test/

المؤلفون: Regeneron Genetics Center

المساهمون: Onderzoek Precision medicine, Team Medisch, Circulatory Health

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing/genetics, Apoptosis Regulatory Proteins/genetics, Atrial Fibrillation/genetics, Cardiomyopathies/genetics, Carrier Proteins/genetics, Case-Control Studies, Coronary Artery Disease/genetics, Cyclin-Dependent Kinase Inhibitor p21/genetics, Genome-Wide Association Study, Heart Failure/genetics, Humans, Mendelian Randomization Analysis, Microfilament Proteins/genetics, Muscle Proteins/genetics, Risk Factors, Ventricular Function, Left/genetics, General Physics and Astronomy, General Chemistry, General Biochemistry,Genetics and Molecular Biology, Meta-Analysis, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/442049Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/442049Test

المؤلفون: Villar-Quiles, Rocío Nur, Catervi, Fabio, Cabet, Eva, Juntas-Morales, Raul, Genetti, Casie C.A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce-Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma Beatriz, Beggs, Alan A.H., Servais, Lara, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband-Goulet, Isabelle, Ferreiro, Ana

المصدر: Annals of neurology, 87 (2

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Adult, Amino Acid Transport System y+ -- metabolism -- physiology, Cell Cycle -- physiology, Cells, Cultured, Child, Preschool, Female, Fibroblasts -- physiology, Humans, Infant, Male, Middle Aged, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Muscular Diseases -- genetics -- physiopathology, Mutation, Pedigree, Phenotype, Transcription Factors -- genetics

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1002/ana.25660; uri/info:pmid/31794073; uri/info:scp/85077147655; uri/info:pmcid/PMC6980348; https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest

المساهمون: Sang-Eun Jung, Seung Min Lim, Sae Rom Hong, Eun Hee Lee, Kyoung-Jin Shin, Hwan Young Lee, Shin, Kyoung Jin

مصطلحات موضوعية: Acetyltransferases/genetics, Adolescent, Adult, Aged, Aging/genetics, Blood Chemical Analysis, CpG Islands/genetics, DNA Methylation, Forensic Genetics, Genetic Markers, Genotyping Techniques/instrumentation, Humans, LIM-Homeodomain Proteins/genetics, Membrane Proteins/genetics, Metalloproteins/genetics, Middle Aged, Mouth Mucosa/chemistry, Muscle Proteins/genetics, Saliva/chemistry, Sequence Analysis, DNA, Sp Transcription Factors/genetics, Transcription Factors/genetics, Young Adult, Age, Blood, Buccal swab, DNA methylation, Methylation SNaPshot, Saliva

العلاقة: FORENSIC SCIENCE INTERNATIONAL-GENETICS; J00905; OAK-2019-01266; https://ir.ymlib.yonsei.ac.kr/handle/22282913/169896Test; https://www.sciencedirect.com/science/article/pii/S1872497318302382Test; T201901477; FORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.38 : 1-8, 2019; 62882

الإتاحة: https://doi.org/10.1016/j.fsigen.2018.09.010Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/169896Test
https://www.sciencedirect.com/science/article/pii/S1872497318302382Test

المؤلفون: Hoffmann, C, Mao, X, Brown-Clay, J, Moreau, F, Al Absi, A, Wurzer, H, Sousa, B, Schmitt, F, Berchem, G, Janji, B, Thomas, C

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Adult, Aged, Animals, Breast / pathology, Breast Neoplasms / genetics, Breast Neoplasms / mortality, Breast Neoplasms / pathology, Cell Hypoxia, Cell Line, Tumor, Cell Movement, Extracellular Matrix / pathology, Female, Gene Expression Regulation, Neoplastic, Gene Knockdown Techniques, Humans, Hypoxia-Inducible Factor 1, alpha Subunit / genetics, alpha Subunit / metabolism, Kaplan-Meier Estimate, LIM Domain Proteins / genetics, LIM Domain Proteins / metabolism, Mice, Middle Aged, Muscle Proteins / genetics, Muscle Proteins / metabolismo, Neoplasm Invasiveness / pathology, Nuclear Proteins / genetics, Nuclear Proteins / metabolismo

وصف الملف: application/pdf

العلاقة: Scientific Reports, vol.8(1):10191; https://www.nature.com/articles/s41598-018-28637-xTest; https://hdl.handle.net/10216/127417Test

الإتاحة: https://doi.org/10.1038/s41598-018-28637-xTest
https://hdl.handle.net/10216/127417Test

المؤلفون: Fransson, Dan, Nielsen, Tobias Schmidt, Olsson, Karl, Christensson, Tobias, Bradley, Paul S, Fatouros, Ioannis G, Krustrup, Peter, Nordsborg, Nikolai Baastrup, Mohr, Magni

المصدر: Fransson , D , Nielsen , T S , Olsson , K , Christensson , T , Bradley , P S , Fatouros , I G , Krustrup , P , Nordsborg , N B & Mohr , M 2018 , ' Skeletal muscle and performance adaptations to high-intensity training in elite male soccer players : speed endurance runs versus small-sided game training ' , European Journal of Applied Physiology , vol. 118 , no. 1 , pp. 111-121 . https://doi.org/10.1007/s00421-017-3751-5Test

مصطلحات موضوعية: Adaptation, Physiological, High-Intensity Interval Training/adverse effects, Humans, Male, Muscle Proteins/genetics, Muscle, Skeletal/metabolism, Physical Endurance, Soccer/physiology, Young Adult

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/8fa756af-5a12-4d59-89ce-7d0a847c5cc0Test

الإتاحة: https://doi.org/10.1007/s00421-017-3751-5Test
https://portal.findresearcher.sdu.dk/da/publications/8fa756af-5a12-4d59-89ce-7d0a847c5cc0Test

المؤلفون: Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G, De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E, Lek, Monkol, MacArthur, Daniel G, Straub, Volker

المصدر: Johnson , K , Bertoli , M , Phillips , L , Töpf , A , Van den Bergh , P , Vissing , J , Witting , N , Nafissi , S , Jamal-Omidi , S , Łusakowska , A , Kostera-Pruszczyk , A , Potulska-Chromik , A , Deconinck , N , Wallgren-Pettersson , C , Strang-Karlsson , S , Colomer , J , Claeys , K G , De Ridder , W , Baets , J , von der Hagen , M , Fernández-Torrón , R , Zulaica Ijurco , M , Espinal Valencia , J ....

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Dystroglycans/metabolism, Female, Genetic Predisposition to Disease, Genetic Variation, Glycosylation, Heterozygote, Homozygote, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Whole Exome Sequencing/methods, Young Adult

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s13395-018-0170-1Test
https://curis.ku.dk/portal/da/publications/detection-of-variants-in-dystroglycanopathyassociated-genes-through-the-application-of-targeted-wholeexome-sequencing-analysis-to-a-large-cohort-of-patients-with-unexplained-limbgirdleTest-muscle-weakness(0068e518-f9ce-4b5f-b7f2-313ed225bc7e).html
https://curis.ku.dk/ws/files/218088378/s13395_018_0170_1.pdfTest