160 results on '"Muscle proteins -- Genetic aspects"'
Search Results
2. Mutations adjacent to the nucleotide-binding cleft of Arabidopsis thaliana ACTIN7 confer resistance to the actin-disrupting compound latrunculin B
3. New Findings from King Faisal University in the Area of Nucleopolyhedrovirus Described [Assessment of Housekeeping Genes Stability for Gene Transcription Regulation Analysis of spodoptera Littoralis (Lepidoptera: Noctuidae) Under ...]
4. Study Data from Victor Babes National Institute for Pathology and Biomedical Sciences Update Understanding of Epileptic Encephalopathy (A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and ...)
5. Select autosomal dominant DFNA11 deafness mutations activate Myo7A in epithelial cells
6. Dilated cardiomyopathy mutation in beta-cardiac myosin enhances actin activation of the power stroke and phosphate release
7. Structural insights into how Prp5 proofreads the pre-mRNA branch site
8. Homologous mutations in b, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation
9. Divergent Molecular Phenotypes in Point Mutations at the Same Residue in Beta-Myosin Heavy Chain Lead to Distinct Cardiomyopathies
10. MYBPHL nonsense mutations have poor sarcomere binding, are degraded, and cause abnormal contraction
11. Findings from Children's Hospital of Nanjing Medical University Broaden Understanding of Cardiovascular Medicine (A novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy)
12. Studies from Stanford University Yield New Information about Hypertrophic Cardiomyopathy (Incomplete- Penetrant Hypertrophic Cardiomyopathy Myh7 G256e Mutation Causes Hypercontractility and Elevated Mitochondrial Respiration)
13. Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility
14. Dynamin-2 Mutations Linked to Neonatal-onset Centronuclear Myopathy impair exocytosis and endocytosis in adrenal chromaffin cells
15. Loss of coactosin-like F-actin binding protein 1 (Cotl1) decreases platelet-mediated osteoclastogenesis and causes osteopetrosis phenotypes in mouse
16. Capital Medical University Researchers Publish Findings in Genetics (Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient)
17. Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy
18. Destabilization of F-actin by Mechanical Stress Deprivation or Tpm3.1 Inhibition Promotes a Pathological Phenotype in Tendon Cells
19. Targeting F-actin stress fibers to suppress the dedifferentiated phenotype in chondrocytes
20. New Muscle Proteins Study Findings Reported from Central China Normal University (Discovery of Next-generation Tropomyosin Receptor Kinase Inhibitors for Combating Multiple Resistance Associated With Protein Mutation)
21. Steroid-resistant nephrotic syndrome associated MYO1E mutations have differential effects on myosin 1e localization, dynamics, and activity
22. Differential expression of actin, beta-like 2 in human epithelial ovarian cancer
23. Differential expression of tropomyosin 1 (alpha) in human epithelial ovarian cancer
24. Mena regulates the LINC complex to control actin-nuclear lamina associations, trans-nuclear membrane signalling and cancer gene expression
25. Differential expression of myosin light chain kinase in human epithelial ovarian cancer
26. Differential expression of tropomyosin 3 in human epithelial ovarian cancer
27. Differential expression of coactosin like F-actin binding protein 1 in human epithelial ovarian cancer
28. Reports from Second Xiangya Hospital Provide New Insights into Pediatrics (Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of Alpha-actin 1 In a Chinese Family With Macrothrombocytopenia and Mild Bleeding)
29. Researchers from Second Xiangya Hospital of Central South University Publish Research in Pediatrics (Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of a-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild ...)
30. Reports Outline Prader-Willi Syndrome Findings from Zhejiang University (A Novel Mutation In the Myosin Binding Protein C Gene In a Prader-willi Syndrome Pedigree)
31. Actin associates with actively elongating genes and binds directly to the Cdk9 subunit of P-TEFb
32. Myosin IG is differentially expressed in the lymph nodes of patients with metastatic breast cancer
33. Research from Sun Yat-sen University Cancer Center in the Area of Breast Cancer Described (Actin-like protein 6A/MYC/CDK2 axis confers high proliferative activity in triple-negative breast cancer)
34. New Findings from SAPIENZA University of Rome in the Area of Nemaline Myopathy Reported (Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores)
35. Smooth muscle aortic alpha actin A2 (ACTA2) is differentially expressed in metastatic breast cancer, both in metastases to the brain and to the lymph nodes. (Updated December 9, 2020)
36. Nagasaki International University Researchers Provide New Insights into Infertility (Genetic Polymorphisms within The Intronless ACTL7A and ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like Proteins in Japanese Males)
37. Human hypertrophic cardiomyopathy mutation R712L suppresses the working stroke of cardiac myosin and can be rescued by omecamtiv mecarbil
38. MyoKardia doses first patient in Phase 2 trial of danicamtiv
39. Data on Science Reported by Researchers at National Institute of Allergy and Infectious Diseases (NIAID) (Hem1 Deficiency Disrupts Mtorc2 and F-actin Control In Inherited Immunodysregulatory Disease)
40. Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration
41. Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in b-III-spectrin (Updated April 10, 2023)
42. Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in b-III-spectrin
43. Data on Neurology Discussed by Researchers at Peking University First Hospital (Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy)
44. Studies from School of Basic and Medical Biosciences Have Provided New Data on Myopathy (Molecular Consequences of the Myopathy-related D286g Mutation On Actin Function)
45. Studies from Second Xiangya Hospital of Central South University Have Provided New Data on Hypertrophic Cardiomyopathy (A novel mutation in the tropomyosin 1 gene in a Chinese patient with hypertrophic cardiomyopathy)
46. Actin filaments accumulate in the nucleus during interphase and remain in the vicinity of condensing chromosomes during prophase to metaphase in zebrafish early embryos (Updated November 7, 2022)
47. Gain-of-function dynamin-2 mutations linked to centronuclear myopathy impair Ca2+-induced exocytosis in human myoblasts
48. Researchers at University of Hull Publish New Data on Biology (Complex Transcriptional Profiles of the * * PPP1R12A* * Gene in Cells of the Circulatory System as Revealed by In Silico Analysis and Reverse Transcription PCR)
49. Mutations of DMYPT cause over constriction of contractile rings and ring canals during Drosophila germline cyst formation
50. Fine-tuning of neuronal architecture requires two profilin isoforms
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