Limb-girdle muscular dystrophies--from genetics to molecular pathology. - Wikidata - awgldk - TriplyDB

Limb-girdle muscular dystrophies--from genetics to molecular pathology.

Limb-girdle muscular dystrophies--from genetics to molecular pathology.

http://www.wikidata.org/entity/Q35714351

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Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation Distinctive patterns of microRNA expression in primary muscular disorders Age-related dystrophin-glycoprotein complex structure and function in the rat extensor digitorum longus and soleus muscle In silico discovery and experimental validation of new protein-protein interactions Lipid domain-dependent regulation of single-cell wound repair.Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature Myogenesis in dysferlin-deficient myoblasts is inhibited by an intrinsic inflammatory response.Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Limb Girdle Muscular Dystrophy (LGMD): Case Report.Calpain chronicle--an enzyme family under multidisciplinary characterization Rehabilitation and the single cell.Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism.Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models Dystrophin-compromised sarcoglycan-δ-knockout diaphragm requires full wild-type embryonic stem cell reconstitution for correction.Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.Therapy insight: cardiovascular complications associated with muscular dystrophies.Gene therapy for muscular dystrophy: lessons learned and path forward Long-term survival of transplanted stem cells in immunocompetent mice with muscular dystrophy.Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy.A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Dysregulation of calcium homeostasis in muscular dystrophies.Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy.The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Reduced serum myostatin concentrations associated with genetic muscle disease progression.Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.A First Step in Viral Gene Therapy for Muscular Dystrophy.A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.Neo-epitope Peptides as Biomarkers of Disease Progression for Muscular Dystrophies and Other Myopathies.CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle.

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P2860

Limb-girdle muscular dystrophies--from genetics to molecular pathology.

http://www.wikidata.org/entity/Q35714351

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P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Myoferlin, a candidate gene and potential modifier of muscular dystrophy

Myotilin is mutated in limb girdle muscular dystrophy 1A

Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines

Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

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