Cargando…

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

Mutations in human collagen VI genes cause a spectrum of musculoskeletal conditions in children and adults collectively termed collagen VI-related myopathies (COL6-RM) characterized by a varying degree of muscle weakness and joint contractures and which include Ullrich Congenital Muscular Dystrophy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rodríguez, M. A., Del Rio Barquero, Luís M., Ortez, Carlos I., Jou, Cristina, Vigo, Meritxell, Medina, Julita, Febrer, Anna, Ramon-Krauel, Marta, Diaz-Manera, Jorge, Olive, Montse, González-Mera, Laura, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550692/ https://www.ncbi.nlm.nih.gov/pubmed/28848425 http://dx.doi.org/10.3389/fnagi.2017.00268

Ejemplares similares

Zebrafish models of collagen VI-related myopathies
por: Telfer, W.R., et al.
Publicado: (2010)

Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets
por: Paco, Sonia, et al.
Publicado: (2013)

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets
por: Paco, Sonia, et al.
Publicado: (2015)

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies
por: Tagliavini, F., et al.
Publicado: (2014)

Sarcolemmal Specific Collagen VI Deficient Myopathy in a Labrador Retriever
por: Marioni‐Henry, K., et al.
Publicado: (2013)

Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea
por: Lee, Jung Hwan, et al.
Publicado: (2017)

H-1 Collagen VI myopathies: pathogenic mechanisms and novel therapeutic perspectives
por: Bonaldo, P.
Publicado: (2011)

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
por: López-Márquez, Arístides, et al.
Publicado: (2022)

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies
por: Almici, Enrico, et al.
Publicado: (2022)

Collagen VI-related myopathy with scoliosis alone: A case report and literature review
por: Li, Jun-Yu, et al.
Publicado: (2021)

Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
por: Starace, Michela, et al.
Publicado: (2023)

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
por: Oros, Mihaela, et al.
Publicado: (2023)

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
por: Trifunov, Selena, et al.
Publicado: (2020)

Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
por: Kim, J., et al.
Publicado: (2012)

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators
por: Paco, Sonia, et al.
Publicado: (2015)

Critical Evaluation of the Use of Cell Cultures for Inclusion in Clinical Trials of Patients Affected by Collagen VI Myopathies
por: Sabatelli, P, et al.
Publicado: (2012)

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies
por: Sorato, E., et al.
Publicado: (2014)

“Target” and “Sandwich” Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies
por: Fu, Jun, et al.
Publicado: (2016)

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy
por: Castroflorio, Enrico, et al.
Publicado: (2022)

Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility
por: Badosa, Carmen, et al.
Publicado: (2023)

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
por: Merlini, Luciano, et al.
Publicado: (2023)

Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
por: Lettmann, Sandra, et al.
Publicado: (2014)

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
por: Dominguez-Gonzalez, Cristina, et al.
Publicado: (2020)

The Seven Ages of Man: VI.—"The Lean and Slippered Pantaloon."
Publicado: (1888)

Use of RNA-sequencing to detect abnormal transcription of the collagen α-2 (VI) chain gene that can lead to Bethlem myopathy
por: Zhong, Jingzi, et al.
Publicado: (2021)

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene
por: Bardakov, Sergey N., et al.
Publicado: (2021)

Authentication of collagen VI antibodies
por: Endicott, Jamie, et al.
Publicado: (2017)

Collagen VI in the Musculoskeletal System
por: Di Martino, Alberto, et al.
Publicado: (2023)

Type VI collagen-related nephropathy
por: Mori, Mutsuki, et al.
Publicado: (2022)

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
por: Juan-Mateu, Jonàs, et al.
Publicado: (2012)

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
por: Trifunov, Selena, et al.
Publicado: (2023)

Heterogeneity of Collagen VI Microfibrils: STRUCTURAL ANALYSIS OF NON-COLLAGENOUS REGIONS
por: Maaß, Tobias, et al.
Publicado: (2016)

Collagen VI in healthy and diseased nervous system
por: Gregorio, Ilaria, et al.
Publicado: (2018)

The Role of Type VI Collagen in Alveolar Bone
por: Komori, Taishi, et al.
Publicado: (2022)

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
por: Kalko, Susana Graciela, et al.
Publicado: (2014)

Alpha-single chains of collagen type VI inhibit the fibrogenic effects of triple helical collagen VI in hepatic stellate cells
por: Freise, Christian, et al.
Publicado: (2021)

Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase
por: Dahl-Halvarsson, Martin, et al.
Publicado: (2020)

Minimal Collagen-Binding Epitope of Glycoprotein VI in Human and Mouse Platelets
por: Han, Chao, et al.
Publicado: (2023)

Dominant collagen XII mutations cause a distal myopathy
por: Mohassel, Payam, et al.
Publicado: (2019)

ColVI myopathies: where do we stand, where do we go?
por: Allamand, Valérie, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_9mlm6b3o6tpatlj8n5a64du4vb