Relevant bibliographies by topics / Collagen VI related dystrophy

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters
  4. Conference papers

Academic literature on the topic 'Collagen VI related dystrophy'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Collagen VI related dystrophy.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Collagen VI related dystrophy"

1

Fraser, Kristin L., Scott Wong, A. Reghan Foley, et al. "Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management." ERJ Open Research 3, no. 2 (2017): 00049–2017. http://dx.doi.org/10.1183/23120541.00049-2017.

Full text
Abstract:
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in theCOL6A1,COL6A2orCOL6A3genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness. To date, intrinsic parenchymal lung diseas
APA, Harvard, Vancouver, ISO, and other styles
2

Castroflorio, Enrico, Ana Joaquina Pérez Berná, Arístides López-Márquez, et al. "The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy." International Journal of Molecular Sciences 23, no. 14 (2022): 7651. http://dx.doi.org/10.3390/ijms23147651.

Full text
Abstract:
Collagen VI-related disorders (COL6-RD) represent a severe form of congenital disease for which there is no treatment. Dominant-negative pathogenic variants in the genes encoding α chains of collagen VI are the main cause of COL6-RD. Here we report that patient-derived fibroblasts carrying a common single nucleotide variant mutation are unable to build the extracellular collagen VI network. This correlates with the intracellular accumulation of endosomes and lysosomes triggered by the increased phosphorylation of the collagen VI receptor CMG2. Notably, using a CRISPR-Cas9 gene-editing tool to
APA, Harvard, Vancouver, ISO, and other styles
3

Antoniel, Manuela, Francesco Traina, Luciano Merlini, et al. "Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations." Cells 9, no. 2 (2020): 409. http://dx.doi.org/10.3390/cells9020409.

Full text
Abstract:
Mutations in collagen VI genes cause two major clinical myopathies, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), and the rarer myosclerosis myopathy. In addition to congenital muscle weakness, patients affected by collagen VI-related myopathies show axial and proximal joint contractures, and distal joint hypermobility, which suggest the involvement of tendon function. To gain further insight into the role of collagen VI in human tendon structure and function, we performed ultrastructural, biochemical, and RT-PCR analysis on tendon biopsies and on cell cultures derive
APA, Harvard, Vancouver, ISO, and other styles
4

Pan, Te-Cheng, Rui-Zhu Zhang, Dessislava Markova, et al. "COL6A3 Protein Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy." Journal of Biological Chemistry 288, no. 20 (2013): 14320–31. http://dx.doi.org/10.1074/jbc.m112.433078.

Full text
Abstract:
Collagen VI is a ubiquitously expressed extracellular microfibrillar protein. Its most common molecular form is composed of the α1(VI), α2(VI), and α3(VI) collagen α chains encoded by the COL6A1, COL6A2, and COL6A3 genes, respectively. Mutations in any of the three collagen VI genes cause congenital muscular dystrophy types Bethlem and Ullrich as well as intermediate phenotypes characterized by muscle weakness and connective tissue abnormalities. The α3(VI) collagen α chain has much larger N- and C-globular domains than the other two chains. Its most C-terminal domain can be cleaved off after
APA, Harvard, Vancouver, ISO, and other styles
5

Padmanabha, Hansashree, Gautham Arunachal, Pratik Kishore, et al. "Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy." Neurology India 71, no. 6 (2023): 1257–59. http://dx.doi.org/10.4103/0028-3886.391402.

Full text
Abstract:
Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in COL6A genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to h
APA, Harvard, Vancouver, ISO, and other styles
6

Guadagnin, Eleonora, Payam Mohassel, Kory R. Johnson, et al. "Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies." Annals of Clinical and Translational Neurology 8, no. 11 (2021): 2184–98. http://dx.doi.org/10.1002/acn3.51450.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

曹, 一凡. "The Treatment Progress of Collagen VI Related Congenital Muscular Dystrophy." Advances in Clinical Medicine 11, no. 12 (2021): 6013–17. http://dx.doi.org/10.12677/acm.2021.1112891.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Batra, Abhinandan, Donovan J. Lott, Rebecca Willcocks, et al. "Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study." Journal of Neuromuscular Diseases 7, no. 4 (2020): 407–17. http://dx.doi.org/10.3233/jnd-190457.

Full text
Abstract:
Collagen VI-related dystrophies (COL6-RDs) and Duchenne muscular dystrophy (DMD) cause progressive muscle weakness and disability. COL6-RDs are caused by mutations in the COL6 genes (COL6A1, COL6A2 and COL6A3) encoding the extracellular matrix protein collagen VI, and DMD is caused by mutations in the DMD gene encoding the cytoplasmic protein dystrophin. Both COL6-RDs and DMD are characterized by infiltration of the muscles by fatty and fibrotic tissue. This study examined the effect of disease pathology on skeletal muscles in lower extremity muscles of COL6-RDs using timed functional tests, s
APA, Harvard, Vancouver, ISO, and other styles
9

Di Martino, Alberto, Matilde Cescon, Claudio D’Agostino, et al. "Collagen VI in the Musculoskeletal System." International Journal of Molecular Sciences 24, no. 6 (2023): 5095. http://dx.doi.org/10.3390/ijms24065095.

Full text
Abstract:
Collagen VI exerts several functions in the tissues in which it is expressed, including mechanical roles, cytoprotective functions with the inhibition of apoptosis and oxidative damage, and the promotion of tumor growth and progression by the regulation of cell differentiation and autophagic mechanisms. Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myopathy (MM), which show a variable combination of mu
APA, Harvard, Vancouver, ISO, and other styles
10

Merlini, Luciano, Patrizia Sabatelli, Francesca Gualandi, Edoardo Redivo, Alberto Di Martino, and Cesare Faldini. "New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients." International Journal of Molecular Sciences 24, no. 15 (2023): 12474. http://dx.doi.org/10.3390/ijms241512474.

Full text
Abstract:
Pathogenetic mechanism recognition and proof-of-concept clinical trials were performed in our patients affected by collagen VI-related myopathies. This study, which included 69 patients, aimed to identify innovative clinical data to better design future trials. Among the patients, 33 had Bethlem myopathy (BM), 24 had Ullrich congenital muscular dystrophy (UCMD), 7 had an intermediate phenotype (INTM), and five had myosclerosis myopathy (MM). We obtained data on muscle strength, the degree of contracture, immunofluorescence, and genetics. In our BM group, only one third had a knee extension str
APA, Harvard, Vancouver, ISO, and other styles
More sources

Dissertations / Theses on the topic "Collagen VI related dystrophy"

1

Guadagnin, Eleonora. "Pathogenetic Mechanisms of Collagen Type VI-Related Muscular Dystrophies." Doctoral thesis, Università degli studi di Padova, 2016. http://hdl.handle.net/11577/3424331.

Full text
Abstract:
The overall focus of thesis is determining key disease-driving molecular pathways involved in the progression of a specific subtype of neuromuscular diseases, the collagen type VI-related muscular dystrophies (COL6RD). These kinds of muscular disorder encompass a wide spectrum of diseases, ranging from the severe Ullrich muscular dystrophy (UCMD) to the mild Bethlem myopathy (BM), characterized by a plethora of clinical manifestations. Both UCMD and BM usually arise at birth or early childhood with hypotonia and progressive muscle weakness, joint contractures and hyperlaxity of the distal join
APA, Harvard, Vancouver, ISO, and other styles
2

Lampe, Anne Katrin. "Exploring the role of collagen VI in muscular dystrophy." Thesis, University of Newcastle Upon Tyne, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.445543.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Hicks, Debbie. "Investigating opportunities for diagnostic and therapeutic advancement in the collagen vi-related disorders." Thesis, University of Newcastle Upon Tyne, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.500962.

Full text
Abstract:
Mutations in C0L6A], COL6A2 and COL6A3, the genes which encode the extracellular matrix component collagen VI, lead to Bethlem myopathy BM Ullrich Congenital Muscular Dystrophy (UCMD) and myosclerosis myopathy. Unlike UCMD, BM is difficult to diagnose due to its clinical overlap with other contractural phenotypes and the lack of sensitivity of standard immunohistochemica! diagnostic techniques in muscle biopsy samples. This thesis investigates the potential of two prospective diagnostic techniques, and proposes an algorithm for better BM diagnosis based on immunofluorescent labelling of collag
APA, Harvard, Vancouver, ISO, and other styles
4

Chrisam, Martina. "Novel insights into the role of skeletal muscle autophagy in health and disease." Doctoral thesis, Università degli studi di Padova, 2016. http://hdl.handle.net/11577/3424327.

Full text
Abstract:
Structurally or functionally altered and unnecessary cellular components are physiologically removed from the cell through a self-degradative process named autophagy. An impairment of the autophagic machinery was shown to have a central role in the pathogenesis of several neurodegenerative, cardiac and age-related diseases. In the laboratory of Prof. Paolo Bonaldo, it was previously shown that an impairment of the autophagy pathway plays a key role in the pathogenesis of Bethlem Myopathy (BM) and Ullrich Congenital Muscular Dystrophy (UD), inherited human pathologies associated to collagen VI
APA, Harvard, Vancouver, ISO, and other styles
5

Foley, A. R. "Collagen VI-related myopathies : navigating through the molecular maze, myomatrix and clinical manifestations on a journey toward clinical trials." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1396013/.

Full text
Abstract:
The congenital muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterised by a congenital onset of weakness and hypotonia, typically associated with dystrophic-appearing muscle biopsy findings. The spectrum of clinical phenotypes associated with the congenital muscular dystrophy subgroup resulting from a deficiency of collagen VI in the extracellular matrix of muscle are collectively termed ‘collagen VI-related myopathies’ and include the early onset Ullrich congenital muscular dystrophy and the milder and later onset Bethlem myopathy as well as a phen
APA, Harvard, Vancouver, ISO, and other styles

Book chapters on the topic "Collagen VI related dystrophy"

1

Peters, Nils, Martin Dichgans, Sankar Surendran, et al. "Collagen VI Related Muscle Disorders." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3121.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Chan, Sophelia H. S., and Asif Javed. "Collagen VI Related Muscular Dystrophy." In Reference Module in Neuroscience and Biobehavioral Psychology. Elsevier, 2025. https://doi.org/10.1016/b978-0-323-95702-1.00373-0.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Bönnemann, Carsten G. "The collagen VI-related myopathies." In Handbook of Clinical Neurology. Elsevier, 2011. http://dx.doi.org/10.1016/b978-0-08-045031-5.00005-0.

Full text
APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Collagen VI related dystrophy"

1

Rodrigues, Rafael, Susana Quijano-Roy, Robert-Yves Carlier, and Antonio M. G. Pinheiro. "Severity Classification in Cases of Collagen Vi-Related Myopathy with Convolutional Neural Networks and Handcrafted Texture Features." In 2022 IEEE International Conference on Image Processing (ICIP). IEEE, 2022. http://dx.doi.org/10.1109/icip46576.2022.9897961.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Rodrigues, Rafael, Marta Gomez-Garcia de la Banda, Mickael Tordjman, et al. "Texture Analysis Of T1-Weighted Turbo Spin-Echo Mri For The Diagnosis And Follow-Up Of Collagen Vi-Related Myopathy." In 2021 IEEE 18th International Symposium on Biomedical Imaging (ISBI). IEEE, 2021. http://dx.doi.org/10.1109/isbi48211.2021.9433942.

Full text
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the extended bibliographies on the topic 'Collagen VI related dystrophy' for particular source types:
Journal articles
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography