A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | |
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1 | Title | DOI | category | year | commentary | ||||||||||||||||||||
2 | Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families | 10.61186/ibj.4018 | basic | 2024 | About three families with six patients in Iran | ||||||||||||||||||||
3 | First year results and insights from the Mexican Rare Disease Patient Registry | 10.1016/j.rare.2024.100046 | basic | 2024 | 3 COL6 patients reported in Mexico | ||||||||||||||||||||
4 | Collagen VI-Related Dystrophies | https://www.ncbi.nlm.nih.gov/books/NBK1503/ | basic | ongoing | |||||||||||||||||||||
5 | Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice | 10.1186/s13287-024-03951-6 | therapy | 2024 | |||||||||||||||||||||
6 | Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy | 10.1007/s12031-024-02266-8 | clinical | 2024 | |||||||||||||||||||||
7 | Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy | 10.1101/2024.03.22.586265 | therapy | 2024 | |||||||||||||||||||||
8 | Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene | 10.1002/ccr3.9306 | clinical | 2024 | |||||||||||||||||||||
9 | Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1−/− mouse model of collagen VI‐related myopathies | 10.1002/ctm2.1688 | therapy | 2024 | |||||||||||||||||||||
10 | Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India | 10.1007/s10048-024-00776-6 | clinical | 2024 | |||||||||||||||||||||
11 | Collagen VI: Role in synaptic transmission and seizure-related excitability | 10.1016/j.expneurol.2024.114911 | basic | 2024 | |||||||||||||||||||||
12 | Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte Cultures | 10.3390/ijms25137118 | basic | 2024 | |||||||||||||||||||||
13 | Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing | 10.1016/j.omtn.2024.102237 | therapy | 2024 | |||||||||||||||||||||
14 | Identification and validation of COL6A1 as a novel target for tumor electric field therapy in glioblastoma | 10.1111/cns.14802 | clinical | 2024 | |||||||||||||||||||||
15 | Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy | 10.1212/NXG.0000000000200148 | therapy | 2024 | |||||||||||||||||||||
16 | Identification of novel variations in three cases with rare inherited neuromuscular disorder | 10.3892/etm.2024.12558 | clinical | 2024 | case report, new mutation | ||||||||||||||||||||
17 | A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1 - Almost Overlooked | 10.1212/WNL.0000000000209476 | clinical | 2024 | case report, new mutation | ||||||||||||||||||||
18 | Identification of key genes affecting ventilator-induced diaphragmatic dysfunction in diabetic mice | 10.3389/fgene.2024.1387688 | basic | 2024 | |||||||||||||||||||||
19 | Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report | 10.1186/s12871-024-02539-0 | clinical | 2024 | |||||||||||||||||||||
20 | Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy | 10.1016/j.omtn.2024.102178 | therapy | 2024 | |||||||||||||||||||||
21 | The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction | 10.3389/fmolb.2024.1376091 | basic | 2024 | |||||||||||||||||||||
22 | COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy. | 10.1159/000536344 | basic | 2024 | case report | ||||||||||||||||||||
23 | A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant | 10.1101/2024.03.21.581572 | basic | 2024 | preprint | ||||||||||||||||||||
24 | The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy | 10.1101/2024.03.29.24304673 | basic | 2024 | preprint | ||||||||||||||||||||
25 | Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD | 10.1212/NXG.0000000000200137 | basic | 2024 | new mutation | ||||||||||||||||||||
26 | Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy | 10.3390/cells13050378 | basic | 2024 | |||||||||||||||||||||
27 | Apelin stimulation of the vascular skeletal muscle stem cell niche enhances endogenous repair in dystrophic mice | 10.1126/scitranslmed.abn8529 | therapy | 2024 | |||||||||||||||||||||
28 | Type VI collagen regulates pericellular matrix properties, chondrocyte swelling, and mechanotransduction in mouse articular cartilage | 10.1002/art.39034 | basic | 2015 | |||||||||||||||||||||
29 | Native collagen VI delays muscle stem cell early differentiation | 10.1242/jcs.261419 | basic | 2024 | |||||||||||||||||||||
30 | The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction | 10.3389/fmolb.2024.1376091 | basic | 2024 | |||||||||||||||||||||
31 | Chapter 6 - Type VI collagen | 10.1016/B978-0-443-15617-5.00004-4 | basic | 2024 | book chapter from Biochemistry of Collagens, Laminins and Elastin | ||||||||||||||||||||
32 | Exome sequencing identifies genes associated with sleep-related traits (COL6 in the brain) | https://doi.org/10.1038/s41562-023-01785-5 | 2024 | ||||||||||||||||||||||
33 | Data augmentation study for rare diseases assessment with Deep Learning: Confocal Imaging analysis of Congenital Muscular Dystrophy | https://repositorio.upct.es/bitstream/handle/10317/13673/das.pdf?sequence=1&isAllowed=y | ML | 2023 | |||||||||||||||||||||
34 | Surgical Outcome on Bethlem Myopathy-A Case Report | 10.1016/j.neurom.2023.04.367 | therapy | 2023 | |||||||||||||||||||||
35 | Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy | 10.4103/0028-3886.391402 | clinical | 2023 | about COL12 | ||||||||||||||||||||
36 | Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study | doi:10.1016/j.nmd.2023.03.003 | clinical | 2023 | |||||||||||||||||||||
37 | Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center | 10.1136/jnnp-2013-307245. | clinical | 2023 | |||||||||||||||||||||
38 | Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence | 10.1016/j.celrep.2023.113371 | basic | 2023 | |||||||||||||||||||||
39 | Sustained oral spermidine supplementation rescues functional and structural defects in COL6-deficient myopathic mice | 10.1080/15548627.2023.2241125 | therapy | 2023 | |||||||||||||||||||||
40 | Collagen VI promotes recovery from colitis by inducing lymphangiogenesis and drainage of inflammatory cells | 10.1002/path.6092 | basic | 2023 | |||||||||||||||||||||
41 | Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy. | 10.1093/qjmed/hcad209 | basic | 2023 | |||||||||||||||||||||
42 | Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility | 10.1038/s41598-023-41632-1 | basic | 2023 | |||||||||||||||||||||
43 | Collagen type VI regulates TGFβ bioavailability in skeletal muscle | 10.3390/ijms241512474 | basic | 2023 | preprint | ||||||||||||||||||||
44 | New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients | 10.3390/ijms241512474 | clinical | 2023 | |||||||||||||||||||||
45 | Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2 | 10.1007/s11033-023-08644-6 | clinical | 2023 | |||||||||||||||||||||
46 | Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy | 10.1016/j.nmd.2023.05.007 | clinical | 2023 | |||||||||||||||||||||
47 | Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype | 10.3390/ijms24076678 | clinical | 2023 | |||||||||||||||||||||
48 | Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes | 10.3390/ijms24065551 | clinical | 2023 | |||||||||||||||||||||
49 | Collagen VI in the Musculoskeletal System | 10.3390/ijms24065095 | clinical | 2023 | |||||||||||||||||||||
50 | Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy. | 10.1097/MD.0000000000033122 | basic | 2023 | |||||||||||||||||||||
51 | Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course | 10.1097/BPO.0000000000002283 | clinical | 2023 | |||||||||||||||||||||
52 | A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report | 10.3390/jpm13111577 | diagnostic | 2023 | |||||||||||||||||||||
53 | Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report | 10.36185/2532-1900-073 | clinical | 2022 | new case | ||||||||||||||||||||
54 | Human intestinal myofibroblasts deposited collagen VI enhances adhesiveness for T cells – A novel mechanism for maintenance of intestinal inflammation | 10.1016/j.matbio.2022.09.001 | basic | 2022 | |||||||||||||||||||||
55 | Collagen VI ablation in zebrafish causes neuromuscular defects during developmental and adult stages | 10.1016/j.matbio.2022.08.004 | basic | 2022 | |||||||||||||||||||||
56 | A woman in her fifties with chronic muscle weakness | 10.4045/tidsskr.21.0038 | clinical | 2022 | |||||||||||||||||||||
57 | Atypical keratosis pilaris-like lesions in a patient with Bethlem myopathy | 10.1111/pde.14862 | clinical | 2022 | |||||||||||||||||||||
58 | Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort | 10.1016/j.jocn.2022.10.007 | clinical | 2022 | |||||||||||||||||||||
59 | Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies | 10.1212/CON.0000000000001203 | review | 2022 | |||||||||||||||||||||
60 | Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction | 10.1242/dmm.049481 | clinical | 2022 | |||||||||||||||||||||
61 | Using in situ hybridization to delineate collagen VI genes’ expression patterns in skeletal muscles of wild-type and COL6-related dystrophies mice | 10.1016/j.nmd.2022.07.332 | clinical | 2022 | |||||||||||||||||||||
62 | The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene | 10.3390/ijms232012127 | clinical | 2022 | |||||||||||||||||||||
63 | Reprogramming the piRNA pathway for multiplexed and transgenerational gene silencing in C. elegans | 10.1038/s41592-021-01369-z | basic | 2022 | |||||||||||||||||||||
64 | Computer vision tools for the automatic evaluation of collagen VI deficiencies | http://hdl.handle.net/2117/368133 | diagnosis | 2022 | |||||||||||||||||||||
65 | Severity classification in cases of collagen vi-related myopathy with convolutional neural networks and handcrafted texture features | https://arxiv.org/pdf/2202.13853.pdf | ML | 2022 | |||||||||||||||||||||
66 | the Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy | 10.3390/ijms23147651 | therapy | 2022 | |||||||||||||||||||||
67 | RNA-based therapeutics for neurological diseases | 10.1080/15476286.2021.2021650 | therapy | 2022 | |||||||||||||||||||||
68 | CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts | 10.3390/ijms23084410 | therapy | 2022 | |||||||||||||||||||||
69 | Deep learning for automatic segmentation of thigh and leg muscles | 10.1007/s10334-021-00967-4 | ML | 2022 | |||||||||||||||||||||
70 | Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy | 10.1007/978-3-030-80614-9_14 | basic | 2021 | book chapter | ||||||||||||||||||||
71 | Ablation of collagen VI leads to the release of platelets with altered function | 10.1182/bloodadvances.2020002671 | basic | 2021 | |||||||||||||||||||||
72 | Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy | 10.3892/ijmm.2021.4861 | clinical | 2021 | c.736‑1G>C | ||||||||||||||||||||
73 | Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family | 10.1097/CND.0000000000000320 | clinical | 2021 | |||||||||||||||||||||
74 | A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report | 10.1186/s12883-021-02134-7 | clinical | 2021 | p.Gly556Val hom | ||||||||||||||||||||
75 | Congenital muscular dystrophies: What is new? | 10.1016/j.nmd.2021.07.009 | review | 2021 | |||||||||||||||||||||
76 | Endotrophin is associated with chronic multimorbidity and all-cause mortality in a cohort of elderly women | 10.1016/j.ebiom.2021.103391 | basic | 2021 | |||||||||||||||||||||
77 | Systemic Supplementation of Collagen VI by Neonatal Transplantation of iPSC-Derived MSCs Improves Histological Phenotype and Function of Col6-Deficient Model Mice | 10.3389/fcell.2021.790341 | therapy | 2021 | |||||||||||||||||||||
78 | Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies | 10.3233/JND-200577 | basic | 2021 | |||||||||||||||||||||
79 | Integrated Cells and Collagen Fibers Spatial Image Analysis | https://www.frontiersin.org/articles/10.3389/fbinf.2021.758775/full | basic | 2021 | |||||||||||||||||||||
80 | Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies | 10.1002/acn3.51450 | basic | 2021 | |||||||||||||||||||||
81 | Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey | 10.4103/aian.AIAN_1182_20 | clinical | 2021 | |||||||||||||||||||||
82 | Causative variant profile of collagen VI-related dystrophy in Japan | 10.1186/s13023-021-01921-2 | clinical | 2021 | |||||||||||||||||||||
83 | Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies | 10.1212/WNL.0000000000011499 | clinical | 2021 | |||||||||||||||||||||
84 | Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene | 10.3233/JND-200476 | clinical | 2021 | |||||||||||||||||||||
85 | Deep Learning Enables Discovery of a Short Nuclear Targeting Peptide for Efficient Delivery of Antisense Oligomers | [[https://pubs.acs.org/doi/10.1021/jacsau.1c00327][10.1021/jacsau.1c00327]] | ML | 2021 | |||||||||||||||||||||
86 | Review of machine learning methods for RNA secondary structure prediction | [[https://doi.org/10.1371/journal.pcbi.1009291][10.1371/journal.pcbi.1009291]] | ML | 2021 | |||||||||||||||||||||
87 | A deep learning approach to identify gene targets of a therapeutic for human splicing disorders | [[https://doi.org/10.1038/s41467-021-23663-2][10.1038/s41467-021-23663-2]] | ML | 2021 | |||||||||||||||||||||
88 | Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice | 10.1186/s13287-021-02514-3 | therapy | 2021 | |||||||||||||||||||||
89 | Base editing repairs an SGCA mutation in human primary muscle stem cells | 10.1172/jci.insight.145994 | therapy | 2021 | |||||||||||||||||||||
90 | Toward the correction of muscular dystrophy by gene editing | 10.1073/pnas.2004840117 | therapy | 2021 | |||||||||||||||||||||
91 | Bethlem myopathy demonstrated in three generations of a rural West Virginia family carrying an autosomal dominant COL6A3 mutation | 10.33470/2379-9536.1328 | clinical | 2021 | |||||||||||||||||||||
92 | Texture Analysis Of T1-Weighted Turbo Spin-Echo Mri For The Diagnosis And Follow-Up Of Collagen Vi-Related Myopathy | https://doi.org/10.1109/ISBI48211.2021.9433942 | diagnosis | 2021 | probably a poster | ||||||||||||||||||||
93 | The critical role of collagen VI in lung development and chronic lung disease | 10.1016/j.mbplus.2021.100058 | basic | 2021 | |||||||||||||||||||||
94 | A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion | 10.1055/s-0040-1714125 | basic | 2020 | special case of a large genomic deletion unmasking a heterozygous mutation | ||||||||||||||||||||
95 | Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness | doi:10.1038/s41436-020-0840-3 | clinical | 2020 | |||||||||||||||||||||
96 | Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain | doi:10.3390/genes11050539 | clinical | 2020 | |||||||||||||||||||||
97 | Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy | 10.1007/s00415-020-09860-x | diagnosis | 2020 | |||||||||||||||||||||
98 | Collagen Ⅵ‐related myopathy with subacute presentation of hypercapnic respiratory failure following pneumonia | doi.org/10.1111/ncn3.12418 | clinical | 2020 | |||||||||||||||||||||
99 | Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity | 10.1016/j.nmd.2020.03.010 | clinical | 2020 | c.7447A>G | p.Lys2483Glu hom | |||||||||||||||||||
100 | A Novel Variant of COL6A2 Gene Causing Bethlem Myopathy and Evaluation of Essential Hypertension | 10.4103/aian.AIAN_247_20 | clinical | 2020 |