159 results on '"van der Ven, Peter F. M."'
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2. The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"
3. Overexpression of human BAG3P209L in mice causes restrictive cardiomyopathy
4. Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
5. Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
6. Phosphoproteomics identifies dual-site phosphorylation in an extended basophilic motif regulating FILIP1-mediated degradation of filamin-C
7. Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
8. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects
9. Target formation in muscle fibres indicates reinnervation -- A proteomic study in muscle samples from peripheral neuropathies.
10. Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
11. Myofibrillar instability exacerbated by acute exercise in filaminopathy
12. Myopodin is an F-actin bundling protein with multiple independent actin-binding regions
13. Filamin C-related myopathies: pathology and mechanisms
14. Multipurpose modular lentiviral vectors for RNA interference and transgene expression
15. Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
16. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
17. Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
18. p0071, a member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle
19. Thick filament assembly occurs after the formation of a cytoskeletal scaffold
20. Expression of sarcomeric proteins and assemblyof myofibrils in the putative myofibroblast cell line BHK-21/C13
21. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
22. Titin and Diaphragm Dysfunction in Chronic Obstructive Pulmonary Disease
23. Differentiation of human skeletal muscle cells in culture: maturation as indicated by titin and desmin striation
24. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
25. Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells
26. Molecular basis of F-actin regulation and sarcomere assembly via myotilin.
27. Structural basis for activation of the titin kinase domain during myofibrillogenesis
28. Expression of sarcomeric proteins and assembly of myofibrils in the putative myofibroblast cell line BHK-21/C13
29. Association of Plectin with Z-Discs Is a Prerequisite for the Formation of the Intermyofibrillar Desmin Cytoskeleton
30. Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.
31. New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
32. Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.
33. Filamins but Not Janus Kinases Are Substrates of the ASB2α Cullin- Ring E3 Ubiquitin Ligase in Hematopoietic Cells.
34. Skeletal muscle regeneration is delayed by reduction in Xin expression: consequence of impaired satellite cell activation?
35. Complete loss of murine Xin results in a mild cardiac phenotype with altered distribution of intercalated discs.
36. Xin, an actin binding protein, is expressed within muscle satellite cells and newly regenerated skeletal muscle fibers.
37. A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy.
38. Xin repeats define a novel actin-binding motif.
39. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
40. Characterization of muscle filamin isoforms suggests a possible role of γ-filamin/ABP-L in sarcomeric Z-disc formation.
41. Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.
42. Breaking sarcomeres by in vitro exercise.
43. Statins activate the canonical hedgehog-signaling and aggravate non-cirrhotic portal hypertension, but inhibit the non-canonical hedgehog signaling and cirrhotic portal hypertension.
44. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
45. Xin expression is observed within muscle satellite cells of regenerating skeletal muscle.
46. Xin is a novel actin binding protein that regulates satellite cell function.
47. The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.
48. Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
49. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
50. Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
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