المؤلفون: Yiming Qi, Xueqi Ji, Hongke Ding, Yunan Wang, Xin Liu, Yan Zhang, Aihua Yin

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: TTN metatranscript-only, hydrops fetalis, arthrogryposis, prenatal diagnostics, titinopathies, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1064474/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/448de3df1d364a50992c1240352205c8

المؤلفون: Marco Savarese, Per Harald Jonson, Sanna Huovinen, Lars Paulin, Petri Auvinen, Bjarne Udd, Peter Hackman

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Titin, Titinopathies, RNA-sequencing, Exon usage, Alternative splicing events, Splicing pattern, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13395-018-0156-z; https://doaj.org/toc/2044-5040

URL الوصول: https://doaj.org/article/ef315c11da9f43abb19995ce4bf7462b

المؤلفون: Ambjorn Brynnel, Yaeren Hernandez, Balazs Kiss, Johan Lindqvist, Maya Adler, Justin Kolb, Robbert van der Pijl, Jochen Gohlke, Joshua Strom, John Smith, Coen Ottenheijm, Henk L Granzier

المصدر: eLife, Vol 7 (2018)

مصطلحات موضوعية: biomechanics, muscle, myofilament function, elasticity, titinopathies, passive stiffness, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/40532; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/8efda138908741c7b765607d2f5a2dd8

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المؤلفون: Savarese, Marco^{Aff1, Aff5}, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne^{Aff1, Aff2, Aff4}, Hackman, Peter

المصدر: Skeletal Muscle. 8(1)

المؤلفون: Diana Castro, Ying Hu, Anirban Majumdar, Beryl B. Cummings, Daniel G. MacArthur, Mridul Johari, Denise M. Malicki, Sandra Donkervoort, John Vissing, Adam Bournazos, Helen Doyle, Carla Grosmann, Sandra T. Cooper, Ana Töpf, Kristl G. Claeys, Gina L. O'Grady, Ben Weisburd, Carsten G. Bönnemann, Julia Baptista, Ana Beleza-Meireles, Mark R. Davis, Nanna Witting, Bjarne Udd, Marco Savarese, Anna Vihola, Laurent C. Francioli, Suzanna C. MacLennan, Jason Pinner, Fathimath Faiz, Kathryn Urankar, Lisa Ewans, Samantha J. Bryen, Sian Ellard, Volker Straub, Katherine R. Chao

المساهمون: Department of Medical and Clinical Genetics, Medicum, University of Helsinki

المصدر: Hum Mutat

مصطلحات موضوعية: Male, Genes, Recessive, Biology, TITIN, Article, Frameshift mutation, arthrogryposis, 03 medical and health sciences, Exon, alternative splicing, Muscular Diseases, Genetics, medicine, Humans, Connectin, Genetic Predisposition to Disease, Myopathy, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Arthrogryposis, 0303 health sciences, Arthrogryposis multiplex congenita, 030305 genetics & heredity, Alternative splicing, Intron, 1184 Genetics, developmental biology, physiology, Infant, Molecular biology, Pedigree, Radiography, Phenotype, congenital titinopathies, Child, Preschool, TTN metatranscript-only, Mutation, biology.protein, Titin, Female, 3111 Biomedicine, medicine.symptom, intronic splice variant

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44ba48f8cc6034e667d87c8c8701a63
http://hdl.handle.net/10138/326361

المؤلفون: J. D. T. Smith, Maya Adler, Johan Lindqvist, Jochen Gohlke, Joshua Strom, Robbert van der Pijl, Coen A.C. Ottenheijm, Balázs Kiss, Justin Kolb, Henk Granzier, Ambjorn Brynnel, Yaeren Hernandez

المساهمون: Physiology, ACS - Pulmonary hypertension & thrombosis, ACS - Heart failure & arrhythmias

المصدر: eLife, 7:e40532. eLife Sciences Publications Limited
eLife
Brynnel, A, Hernandez, Y, Kiss, B, Lindqvist, J, Adler, M, Kolb, J, van der Pijl, R, Gohlke, J, Strom, J, Smith, J, Ottenheijm, C & Granzier, H L 2018, ' Downsizing the molecular spring of the giant protein titin reveals that skeletal muscle titin determines passive stiffness and drives longitudinal hypertrophy ', eLife, vol. 7, e40532 . https://doi.org/10.7554/eLife.40532, https://doi.org/10.7554/eLife.40532
eLife, Vol 7 (2018)

مصطلحات موضوعية: 0301 basic medicine, Myofilament, Mouse, muscle, Physics of Living Systems, Sarcomere, Muscle hypertrophy, Extracellular matrix, Mice, Myofibrils, Connectin, Biology (General), biology, Chemistry, General Neuroscience, Molecular spring, General Medicine, musculoskeletal system, Extracellular Matrix, Actin Cytoskeleton, medicine.anatomical_structure, Medicine, Titin, Sarcomeres, animal structures, QH301-705.5, Science, titinopathies, passive stiffness, macromolecular substances, biomechanics, General Biochemistry, Genetics and Molecular Biology, Research Communication, 03 medical and health sciences, medicine, Animals, Humans, Muscle, Skeletal, Actin, General Immunology and Microbiology, Myocardium, Skeletal muscle, Hypertrophy, Elastic Tissue, Muscle, Striated, 030104 developmental biology, biology.protein, Biophysics, elasticity, myofilament function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9eab670756f19aed3db23661d149b05
https://doi.org/10.7554/elife.40532

المؤلفون: Peter Hackman, Petri Auvinen, Per Harald Jonson, Marco Savarese, Bjarne Udd, Sanna Huovinen, Lars Paulin

المساهمون: Lääketieteen ja biotieteiden tiedekunta - Faculty of Medicine and Life Sciences, University of Tampere, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Institute of Biotechnology, DNA Sequencing and Genomics

المصدر: Skeletal Muscle
Skeletal Muscle, Vol 8, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: INVOLVEMENT, 0301 basic medicine, lcsh:Diseases of the musculoskeletal system, Titin, Titinopathies, Exon, BINDING, Protein Isoforms, Connectin, Orthopedics and Sports Medicine, RNA-SEQ, MUTATION, biology, Exons, medicine.anatomical_structure, RNA splicing, Neurotieteet - Neurosciences, Adult, Gene isoform, Biolääketieteet - Biomedicine, RNA-sequencing, ISOFORMS, Computational biology, SEQUENCE, Exon usage, 03 medical and health sciences, Nebulin, Splicing pattern, medicine, Humans, RNA, Messenger, Muscle, Skeletal, Alternative splicing events, Molecular Biology, CARDIOMYOPATHY, Sequence Analysis, RNA, Myocardium, Research, Alternative splicing, Skeletal muscle, Cell Biology, GENE, Exon skipping, Alternative Splicing, 030104 developmental biology, biology.protein, 1182 Biochemistry, cell and molecular biology, RNA Splice Sites, 3111 Biomedicine, lcsh:RC925-935, TISSUE-SPECIFIC EXPRESSION, NEBULIN

وصف الملف: fulltext

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387f83e9532a18e20159ce2f8b2865ac
https://doi.org/10.1186/s13395-018-0156-z

لا يتم عرض هذه النتيجة على الضيوف.
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لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.