المؤلفون: Beth Stronach, Lisa Schoyer, Dominic Esposito, Katherine A. Rauen, Edjay R. Hernandez, Leslie G. Biesecker, Bruce D. Gelb, Mignon L. Loh, Andrea M. Gross, Pamela L. Wolters, Deborah K. Morrison, Megan N. Frone, Frank McCormick, Karen W. Gripp, Eric Legius, Lisa Schill, Staci Martin, Sharon A. Savage, Marielle E. Yohe, Brigitte C. Widemann, Douglas R. Stewart, Dina Zand

المصدر: Am J Med Genet A

مصطلحات موضوعية: Heart Defects, Congenital, Research Report, Oncology, medicine.medical_specialty, Neurofibromatosis 1, Breakthrough therapy, RASopathy, Cardiofaciocutaneous syndrome, Article, Costello syndrome, Ectodermal Dysplasia, Internal medicine, Biomarkers, Tumor, Genetics, medicine, Humans, Molecular Targeted Therapy, Neurofibromatosis, Intersectoral Collaboration, Genetics (clinical), business.industry, Costello Syndrome, Noonan Syndrome, Facies, medicine.disease, National Cancer Institute (U.S.), United States, Failure to Thrive, Clinical trial, Mutation, ras Proteins, Selumetinib, Noonan syndrome, business, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3834d0c8df8d1fee6a93a60553d8e6Test
https://doi.org/10.1002/ajmg.a.61485Test

المؤلفون: Maja Solman, Angie C. Jelin, Annie Kennedy, Alan L. Ho, Shin Ichi Inoue, Nancy Ratner, Susan Blaser, Emma Burkitt-Wright, Karin S. Walsh, Darryl B. McConnell, Michelle Ellis, Angelica Thomas, Gregg Erickson, Rebecca D. Burdine, Pau Castel, Gavin Rumbaugh, Beth Stronach, Richard J. T. Klein, Pablo Rodriguez-Viciana, Sandra Darilek, Bruce D. Gelb, Pilar L. Magoulas, Martin Zenker, Pamela L. Wolters, Amanda Brown, Tuesdi Dyer, James Lloyd Holder, Anna Sablina, Karen W. Gripp, Alwyn Dias, Lisa Schill, Kartik Venkatachalam, Lisa Schoyer, Marco Tartaglia, Amy E. Roberts, Neal Rosen, Tamar Green, Anton M. Bennett, William Timmer, Katherine A. Rauen, Frank McCormick, Andrea M. Gross, Maria I. Kontaridis, Jae Sung Yi, Carlos E. Prada, Benjamin G. Neel

المصدر: American journal of medical genetics. Part A, vol 182, iss 3
Am J Med Genet A
American Journal of Medical Genetics, Part A, 182(3), 597. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, MISSENSE MUTATIONS, 030105 genetics & heredity, Gene mutation, SYNDROME REVEALS, Patient advocacy, ACTIVATION, MYELIN STRUCTURE, Medicine, Noonan syndrome, Genetics(clinical), Genetics (clinical), Genetics & Heredity, HYPERTROPHIC CARDIOMYOPATHY, MOUSE MODEL, Medical research, Costello syndrome, PPP1CB, kinases, Drug development, Genetic Diseases, REPORTED OUTCOME MEASURES, Life Sciences & Biomedicine, Signal Transduction, medicine.medical_specialty, Clinical Sciences, NOONAN-SYNDROME, Context (language use), RASopathy, Article, cardio-facio-cutaneous syndrome, 03 medical and health sciences, Rare Diseases, Genetics, Humans, Intensive care medicine, Germ-Line Mutation, Mitogen-Activated Protein Kinase Kinases, Science & Technology, neurofibromatosis, business.industry, Precision medicine, medicine.disease, 030104 developmental biology, Inborn, Good Health and Well Being, ras Proteins, Personalized medicine, business

وصف الملف: application/pdf; image/pdf; Print-Electronic; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e4047f8a0f8a59aa9ba21ad0430336Test
https://doi.org/10.1002/ajmg.a.61434Test

المؤلفون: Norbert Perrimon, Change Tan, Beth Stronach

المصدر: Development. 130:671-681

مصطلحات موضوعية: Embryo, Nonmammalian, Myosin light-chain kinase, macromolecular substances, Biology, Eye, Article, Mice, Myosin-Light-Chain Phosphatase, Myosin head, Oogenesis, Myosin, Phosphoprotein Phosphatases, Animals, Drosophila Proteins, Cloning, Molecular, Phosphorylation, Molecular Biology, Rho-associated protein kinase, Body Patterning, Myosin Type II, Meromyosin, Myosin Heavy Chains, Ovary, Gene Expression Regulation, Developmental, Membrane Proteins, Dorsal closure, rac GTP-Binding Proteins, Cell biology, Protein Subunits, Drosophila melanogaster, Biochemistry, Mutation, Female, MYH7, Myosin-light-chain phosphatase, rhoA GTP-Binding Protein, Signal Transduction, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bca87fcc391b37abeadcb13a4177acb7Test
https://doi.org/10.1242/dev.00298Test

المؤلفون: Ashley L. Lennox, Beth Stronach

مصطلحات موضوعية: Programmed cell death, animal structures, MAP Kinase Signaling System, Apoptosis, Nerve Tissue Proteins, Article, Animals, Drosophila Proteins, Caspase, Innate immune system, biology, JNK Mitogen-Activated Protein Kinases, Gene Expression Regulation, Developmental, JUN kinase, Embryonic stem cell, Dorsal closure, Cell biology, Cytoskeletal Proteins, Caspases, Larva, biology.protein, Ectopic expression, Drosophila, Carrier Proteins, Drosophila Protein, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0628cc16608e16e4f39cbc8f2f50cbb9Test
https://europepmc.org/articles/PMC4083821Test/

المؤلفون: Richard G. Fehon, Olga Speck, Amanda L. Neisch, Beth Stronach

المصدر: The Journal of Cell Biology

مصطلحات موضوعية: musculoskeletal diseases, rho GTP-Binding Proteins, endocrine system, RHOA, Moesin, Morphogenesis, Apoptosis, macromolecular substances, Article, Cell membrane, Animals, Genetically Modified, hemic and lymphatic diseases, Cell cortex, medicine, Animals, Drosophila Proteins, Wings, Animal, Rho-associated protein kinase, Research Articles, biology, MAP kinase kinase kinase, Cell Membrane, fungi, JNK Mitogen-Activated Protein Kinases, Membrane Proteins, Epithelial Cells, Cell Biology, MAP Kinase Kinase Kinases, humanities, Cell biology, Enzyme Activation, body regions, medicine.anatomical_structure, Drosophila melanogaster, biology.protein, RNA Interference, Signal transduction, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78c2e9cecddcf86ae8ec26f398319162Test

المؤلفون: Beth Stronach, Patricia J. Renfranz, Mary C. Beckerle, Brenda Lilly

المصدر: Molecular biology of the cell. 10(7)

مصطلحات موضوعية: Mef2, Sarcomeres, Integrins, Embryo, Nonmammalian, Muscle Proteins, Biology, MyoD, Muscle Development, Sarcomere, Article, Cell Fusion, Myoblast fusion, Muscle attachment, Myocyte, Animals, Drosophila Proteins, Actinin, Molecular Biology, Genetics, Microscopy, Confocal, Myogenesis, MEF2 Transcription Factors, Muscles, Gene Expression Regulation, Developmental, Cell Biology, LIM Domain Proteins, Cell biology, DNA-Binding Proteins, Myogenic Regulatory Factors, Larva, Myogenic regulatory factors, Mutation, Drosophila, Integrin alpha Chains, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df0af15e9eba25fbf0e293bc69162a79Test
https://pubmed.ncbi.nlm.nih.gov/10397768Test