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

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
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 B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

المؤلفون: Lornage, Xavière, Malfatti, Edoardo, Schneider, Raphael, Biancalana, Valerie, Cuisset, Jean, Garibaldi, Matteo, Eymard, Bruno, Fardeau, Michel, Boland, Anne, Deleuze, Jean, Thompson, Julie, D., Carlier, Robert, Bohm, Johann, Romero, Norma, Laporte, Jocelyn

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Ann Neurol ; https://hal.science/hal-03680439Test ; Ann Neurol, 2017, 81 (3), pp.467-473. ⟨10.1002/ana.24900⟩ ; http://www.ncbi.nlm.nih.gov/pubmed/28220527Test

مصطلحات موضوعية: Adult, Consanguinity, Exome, Female, Humans, Male, Muscle Proteins/*genetics, Mutation, Myopathies, Structural, Congenital/*genetics/pathology/physiopathology, Pedigree, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

العلاقة: hal-03680439; https://hal.science/hal-03680439Test

الإتاحة: https://doi.org/10.1002/ana.24900Test
https://hal.science/hal-03680439Test

المؤلفون: Laure Grand Moursel, Rune R. Frants, Jun Wang, René E. M. Toes, Ivana Bagaric, Silvère M. van der Maarel, Eduard Gallardo, Bàrbara Flix, Antoine de Morrée, Isabel Illa, Marlinde L. van den Boogaard

المصدر: JOURNAL OF BIOLOGICAL CHEMISTRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Biological Chemistry, 288(20), 14147-14157
de Morrée, A, Flix, B, Bagaric, I, Wang, J, van den Boogaard, M, Grand Moursel, L, Frants, R R, Illa, I, Gallardo, E, Toes, R & van der Maarel, S M 2013, ' Dysferlin regulates cell adhesion in human monocytes ', The Journal of Biological Chemistry, vol. 288, no. 20, pp. 14147-14157 . https://doi.org/10.1074/jbc.M112.448589Test

مصطلحات موضوعية: Monocytes/cytology, Dysferlinopathy, Integrin, Cell, Muscle Proteins, Biology, Biochemistry, Monocytes, Muscular Dystrophies, Dysferlin, Cell membrane, medicine, Cell Adhesion, Humans, Muscular Dystrophies/metabolism, Membrane Proteins/genetics, Muscle, Skeletal, Cell adhesion, Molecular Biology, Inflammation, Muscle Proteins/genetics, Muscle, Skeletal/metabolism, Monocyte, Macrophages, Integrin beta3, Muscular Dystrophies, Limb-Girdle/genetics, Membrane Proteins, Cell Differentiation, Cell Biology, biochemical phenomena, metabolism, and nutrition, medicine.disease, Cell biology, Fibronectin, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Gene Expression Regulation, Immune System, Mutation, biology.protein, Integrin beta3/metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed5bf61dc43b228f7acaa8aa2ad1ec10Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10011Test

المؤلفون: Tan, V. P., Lam, C. S., Wang, J., Wong, B. C., Zhang, W., Yang, Y., Jiang, B., Peng, J., Tu, S., Sardet, C., Zhang, Y., Pang, R., Hung, I. F.

المساهمون: Institut de Génétique Moléculaire de Montpellier (IGMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0899-1987.

مصطلحات موضوعية: Genetic Protein Binding RNA, Cultured Two-Hybrid System Techniques beta Catenin/genetics/metabolism, Blotting, Genetic Transcriptional Activation Tumor Cells, Small Interfering/genetics Stomach Neoplasms/*genetics/metabolism/pathology *Trans-Activators Transcription Factor AP-1/genetics/metabolism Transcription Factors/*genetics/*metabolism Transcription, Western Cell Nucleus/metabolism Cytoplasm/metabolism Fluorescent Antibody Technique Homeodomain Proteins/*genetics/*metabolism Humans Immunoprecipitation Intracellular Signaling Peptides and Proteins/antagonists & inhibitors/genetics/*metabolism Luciferases/metabolism Mitochondria/metabolism Muscle Proteins/*genetics/*metabolism Neoplasm Proteins/antagonists & inhibitors/genetics/*metabolism Promoter Regions, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

العلاقة: hal-02193331; https://hal.science/hal-02193331Test

الإتاحة: https://doi.org/10.1002/mc.20705Test
https://hal.science/hal-02193331Test

المؤلفون: Herman H. H. B. M. van Haagen, Martijn J. Schuemie, D.J.M. (Dorien) Peters, Willeke M. C. van Roon-Mom, Gert-Jan B. van Ommen, Antoine de Morrée, Marco Roos, Peter A C 't Hoen, Barend Mons

المساهمون: Obstetrics & Gynecology, Medical Informatics

المصدر: Proteomics, 11(5), 843-853. Wiley-VCH
Proteomics
Proteomics, 11(5), 843-53
van Haagen, H H H B M, 't Hoen, P A C, de Morrée, A, van Roon-Mom, W M C, Peters, D J M, Roos, M, Mons, B, van Ommen, G-J & Schuemie, M J 2011, ' In silico discovery and experimental validation of new protein-protein interactions ', Proteomics, vol. 11, no. 5, pp. 843-53 . https://doi.org/10.1002/pmic.201000398Test

مصطلحات موضوعية: Huntingtin, Gene Expression, Muscle Proteins, Biochemistry, Muscular Dystrophies, Dysferlin, Mice, Protein Interaction Mapping, Polycystic kidney disease, Muscular Dystrophies/genetics, Nerve Tissue Proteins/genetics, Molecular Targeted Therapy, Databases, Protein, Huntington Disease/genetics, Muscle Proteins/genetics, Genetics, Huntingtin Protein, Polycystic Kidney Diseases, String (computer science), Nuclear Proteins, Experimental validation, Polycystic Kidney Diseases/genetics, Huntington Disease, Drosophila, Algorithms, Protein Binding, Protein Interaction Mapping/methods, In silico, Protein domain, Nerve Tissue Proteins, Biology, Protein–protein interaction, SDG 3 - Good Health and Well-being, Predictive Value of Tests, medicine, Animals, Humans, RNA, Messenger, Membrane Proteins/genetics, Molecular Biology, Probability, Computational Biology, Membrane Proteins, Computational Biology/methods, medicine.disease, Protein Structure, Tertiary, Nuclear Proteins/genetics, biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8f414fbdcc4e4342618b6a4c49c85eTest
https://pubmed.ncbi.nlm.nih.gov/21280221Test

المؤلفون: Andrew M. Bellinger, Jan Aydin, Jan Nedergaard, Andrew R. Marks, Håkan Westerblad, Shi-Jin Zhang, Barbara Cannon, Joseph D. Bruton, Steven Reiken, Irina G. Shabalina, Nicolas Place

المصدر: FASEB Journal, Vol. 22, No 11 (2008) pp. 3919-3924

مصطلحات موضوعية: Adipose Tissue, Brown/metabolism, Acclimatization, Muscle Proteins, Biochemistry, Ion Channels, Research Communications, Mice, Adipose Tissue, Brown, Ion Channels/genetics/*metabolism, Brown adipose tissue, Phosphorylation, Uncoupling Protein 1, Mice, Knockout, Shivering, Muscle, Skeletal/*metabolism, Thermogenesis, Calcium/*metabolism, musculoskeletal system, Thermogenin, Mitochondrial Proteins/genetics/*metabolism, Cold Temperature, medicine.anatomical_structure, medicine.symptom, Cyclic AMP-Dependent Protein Kinases/genetics/metabolism, Biotechnology, Muscle contraction, medicine.medical_specialty, animal structures, Ryanodine Receptor Calcium Release Channel/genetics/metabolism, Biology, Mitochondrial Proteins, ddc:616.9802, Muscle Proteins/genetics/*metabolism, Internal medicine, Genetics, medicine, Cold acclimation, Animals, Muscle, Skeletal, Molecular Biology, Thermogenesis/*physiology, Soleus muscle, Shivering/physiology, Acclimatization/*physiology, Skeletal muscle, Ryanodine Receptor Calcium Release Channel, Cyclic AMP-Dependent Protein Kinases, Endocrinology, Calcium

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82dbfdbc0ff91a2362409feb39ecbfc4Test
https://archive-ouverte.unige.ch/unige:19099Test

المؤلفون: T. De Ravel, Desire Collen, Gert Matthijs, Cuno Kuiperi, Els Schollen, Hein Heidbuchel, Peter Carmeliet, T Rossenbacker, Koenraad Devriendt

المساهمون: Clinical sciences, Medical Genetics, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Pathologic Biochemistry and Physiology

المصدر: Journal of medical genetics. 42(5)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, RNA Splicing, Arrhythmias, Cardiac/genetics, DNA Mutational Analysis, Sodium Channels/genetics, Muscle Proteins, NAV1.5 Voltage-Gated Sodium Channel, Biology, medicine.disease_cause, Models, Biological, Sodium Channels, Introns/genetics, Channelopathy, Molecular genetics, Genetics, Intronic Mutation, medicine, Humans, cardiovascular diseases, Allele, RNA Splice Sites/genetics, Child, Genetics (clinical), Alleles, Brugada syndrome, RNA Splicing/physiology, Aged, Muscle Proteins/genetics, Mutation, Arrhythmias, Cardiac, Syndrome, Middle Aged, medicine.disease, Molecular biology, Phenotype, Introns, Pedigree, cardiovascular system, Female, RNA Splice Sites, Online Mutation Report

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5e33e2a649a63317eead4dc7ce2c95Test
https://pubmed.ncbi.nlm.nih.gov/15863661Test