المؤلفون: Stephanie K Mewborn, Megan J Puckelwartz, Fida Abuisneineh, John P Fahrenbach, Yuan Zhang, Heather MacLeod, Lisa Dellefave, Peter Pytel, Sara Selig, Christine M Labno, Karen Reddy, Harinder Singh, Elizabeth McNally

المصدر: PLoS ONE, Vol 5, Iss 12, p e14342 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3001866?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/df610e50d6a54be183c634a8b9421c6f

المؤلفون: Deborah L. Guris, Elizabeth M. McNally, Savitri Fedson, Peter Pytel, Ivan P. Moskowitz, Lisa Dellefave, Bassem N. Mora, Stephanie K. Mewborn, Darrel Waggoner

المصدر: Circulation: Cardiovascular Genetics. 2:442-449

مصطلحات موضوعية: Male, Sarcomeres, medicine.medical_specialty, TNNT2, Cardiomyopathy, Gene mutation, Internal medicine, Genetics, medicine, Humans, Child, Genetics (clinical), Ultrasonography, Myosin Heavy Chains, biology, business.industry, Infant, Newborn, Infant, Dilated cardiomyopathy, Middle Aged, medicine.disease, Left ventricular noncompaction cardiomyopathy, Troponin, Pedigree, Child, Preschool, Mutation, Cardiology, biology.protein, Left ventricular noncompaction, Female, Hypertrophy, Left Ventricular, MYH7, Carrier Proteins, Cardiology and Cardiovascular Medicine, business, Cardiac Myosins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ec0d7f0c2534e6a9fa8d0cacb39c2a
https://doi.org/10.1161/circgenetics.109.861955

المؤلفون: Didier Hodzic, Judy U. Earley, Michele Hadhazy, Elizabeth M. McNally, K. Natalie Randles, Yuan Zhang, James M. Holaska, Peter Pytel, Megan J. Puckelwartz, Glenn E. Morris, Stephanie K. Mewborn, Eric J Kessler

المصدر: Human Molecular Genetics. 18:607-620

مصطلحات موضوعية: Male, Nuclear Envelope, LINC complex, Molecular Sequence Data, Nerve Tissue Proteins, Biology, Mice, Genetics, medicine, Animals, Humans, Inner membrane, Gene Silencing, Nuclear membrane, Emery–Dreifuss muscular dystrophy, Nuclear protein, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Mice, Knockout, Nesprin, Nuclear Proteins, Articles, General Medicine, medicine.disease, Lamins, Muscular Dystrophy, Emery-Dreifuss, Transmembrane protein, Protein Structure, Tertiary, Cell biology, Mice, Inbred C57BL, Cytoskeletal Proteins, Disease Models, Animal, Phenotype, medicine.anatomical_structure, Female, Lamin, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3ae67f31e43d324a667112557c8a0a
https://doi.org/10.1093/hmg/ddn386

المؤلفون: Judy A. Fantes, David H. Ledbetter, Bing Huang, Stephanie K. Mewborn, Susan L. Christian

المصدر: Human Molecular Genetics. 8:1025-1037

مصطلحات موضوعية: DNA, Complementary, Molecular Sequence Data, Gene Dosage, Biology, Contig Mapping, Sequence-tagged site, Gene Duplication, Angelman syndrome, Chromosome regions, Genomic Segment, Gene duplication, Genetics, medicine, Animals, Humans, Bacteriophages, Cloning, Molecular, Molecular Biology, In Situ Hybridization, Fluorescence, Genetics (clinical), Gene Library, Sequence Deletion, Sequence Tagged Sites, Chromosomes, Human, Pair 15, Bacteria, Contig, Chromosome Fragility, Chromosome Mapping, Chromosome, Cercopithecidae, Hominidae, DNA, Sequence Analysis, DNA, General Medicine, medicine.disease, Angelman Syndrome, Prader-Willi Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd44bcb186ae49c07c10e032800a49d
https://doi.org/10.1093/hmg/8.6.1025

المؤلفون: Christine M. Labno, Lisa Dellefave, Elizabeth M. McNally, Stephanie K. Mewborn, John Fahrenbach, Yuan Zhang, Peter Pytel, Heather MacLeod, Harinder Singh, Megan J. Puckelwartz, Karen L. Reddy, Sara Selig, Fida Abuisneineh

المصدر: PLoS ONE
PLoS ONE, Vol 5, Iss 12, p e14342 (2010)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Mutant, Cardiovascular Disorders/Heart Failure, lcsh:Medicine, Neurological Disorders/Neuromuscular Diseases, Biology, Gene mutation, medicine.disease_cause, LMNA, 03 medical and health sciences, 0302 clinical medicine, Genetics and Genomics/Epigenetics, Cardiovascular Disorders/Arrhythmias, Electrophysiology, and Pacing, Gene expression, medicine, Humans, lcsh:Science, In Situ Hybridization, Fluorescence, 030304 developmental biology, Genes, Dominant, Genetics, Regulation of gene expression, Cell Nucleus, 0303 health sciences, Mutation, Multidisciplinary, integumentary system, Myocardium, lcsh:R, Chromosome Mapping, Fibroblasts, Lamin Type A, Genetics and Genomics/Disease Models, Gene Expression Regulation, Microscopy, Fluorescence, 030220 oncology & carcinogenesis, embryonic structures, Nuclear lamina, lcsh:Q, Cardiovascular Disorders/Myopathies, Cardiomyopathies, Lamin, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ed0fefa7abb969a3afd46af3198d2e
http://europepmc.org/articles/PMC3001866

المؤلفون: James M. Holaska, Gene Kim, Judy U. Earley, Megan M. DeWitt, Megan J. Puckelwartz, Peter Pytel, Elizabeth M. McNally, Frederic Depreux, Yuan Zhang, Stephanie K. Mewborn, Eric J Kessler

المصدر: Journal of molecular and cellular cardiology. 48(4)

مصطلحات موضوعية: medicine.medical_specialty, Nuclear Envelope, Cardiomyopathy, Mutation, Missense, Nerve Tissue Proteins, Biology, Gene mutation, Article, LMNA, Mice, Internal medicine, Heterochromatin, medicine, Animals, Humans, Myocytes, Cardiac, Nuclear protein, Molecular Biology, Cell Nucleus, Nesprin, Nuclear Proteins, Dilated cardiomyopathy, Fibroblasts, medicine.disease, Cell biology, Transplantation, Cytoskeletal Proteins, Echocardiography, Mutation, Cardiology, Laminin, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Lamin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3742f26c7dee3fe9ec69a5fa8d2fd4ca
https://pubmed.ncbi.nlm.nih.gov/19944109

المؤلفون: Elizabeth M. McNally, Michael J. Allikian, Andrew A. Hack, Stephanie K. Mewborn, Ulrike Mayer

المصدر: Journal of cell science. 117(Pt 17)

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Integrins, Time Factors, Integrin, Immunoblotting, Mice, Antigens, CD, Microsomes, Sarcoglycans, Myosin, medicine, In Situ Nick-End Labeling, Myocyte, Animals, Regeneration, Muscular dystrophy, Coloring Agents, Dystroglycans, Muscle, Skeletal, Cytoskeleton, Cell Nucleus, biology, Reverse Transcriptase Polymerase Chain Reaction, Muscles, Cell Membrane, Cardiac muscle, Cell Differentiation, Cell Biology, musculoskeletal system, medicine.disease, Molecular biology, Immunohistochemistry, Extracellular Matrix, Up-Regulation, Sarcoglycan, medicine.anatomical_structure, Phenotype, Mutation, biology.protein, Laminin, Dystrophin, ITGA7, Integrin alpha Chains, Evans Blue

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8782b8b5176a4bf482cfc2b3b4fd3c20
https://pubmed.ncbi.nlm.nih.gov/15252120

المؤلفون: Soma Das, David H. Ledbetter, William B. Dobyns, Patti L. Mills, M. Elizabeth Ross, Naomichi Matsumoto, Daniela T. Pilz, Laura L. Dudlicek, Julie A. Kuc, Melissa B. Ramocki, Richard J. Leventer, Stephanie K. Mewborn

المصدر: European journal of human genetics : EJHG. 9(1)

مصطلحات موضوعية: Doublecortin Domain Proteins, Male, Doublecortin Protein, X Chromosome, Genotype, Nonsense mutation, DNA Mutational Analysis, Germline mosaicism, medicine.disease_cause, Cohort Studies, PAFAH1B1, Germline mutation, Dosage Compensation, Genetic, Genetics, medicine, Missense mutation, Humans, Genetics (clinical), Germ-Line Mutation, Mutation, biology, Mosaicism, Neuropeptides, Brain, DNA, Doublecortin, Phenotype, biology.protein, Female, Microtubule-Associated Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146426097b5341b66a739648132853ba
https://pubmed.ncbi.nlm.nih.gov/11175293

المؤلفون: Lorraine F. May, David H. Ledbetter, Melissa B. Ramocki, Daniela T. Pilz, Laura L. Dudlicek, Julie A. Kuc, Patti L. Mills, Naomichi Matsumoto, Richard J. Leventer, Stephanie K. Mewborn, William B. Dobyns, Carlos Cardoso, Soma Das

المصدر: Human molecular genetics. 9(20)

مصطلحات موضوعية: Male, Genotype, Protein Conformation, Protein subunit, Molecular Sequence Data, Mutation, Missense, Lissencephaly, Biology, medicine.disease_cause, Nervous System Malformations, PAFAH1B1, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Molecular Biology, Gene, Genetics (clinical), Mutation, Sequence Homology, Amino Acid, Chromosome Mapping, General Medicine, Exons, medicine.disease, Phenotype, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Female, Microtubule-Associated Proteins, Gene Deletion, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::817e3e0e0ed24a2c22858f9c64a7950a
https://pubmed.ncbi.nlm.nih.gov/11115846