相似文献
1
Collagen VI related muscle disorders.
J Med Genet. 2005 Sep;42(9):673-85. doi: 10.1136/jmg.2002.002311.
2
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754.
3
[Collagen VI-related muscle disorders].
Brain Nerve. 2011 Nov;63(11):1169-78.
5
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704.
6
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24.
7
Autosomal dominant Ullrich congenital muscular dystrophy due to a mutation in gene. A case report.
Acta Myol. 2022 Jun 30;41(2):95-98. doi: 10.36185/2532-1900-073. eCollection 2022 Jun.
8
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
Handb Clin Neurol. 2011;101:81-96. doi: 10.1016/B978-0-08-045031-5.00005-0.
9
Collagen type VI myopathies.
Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12.
10
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
Am J Hum Genet. 2003 Aug;73(2):355-69. doi: 10.1086/377107. Epub 2003 Jul 1.
引用本文的文献
1
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.
PLoS Genet. 2025 Aug 18;21(8):e1011806. doi: 10.1371/journal.pgen.1011806. eCollection 2025 Aug.
2
Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.
J R Soc Interface. 2025 Mar;22(224):20240860. doi: 10.1098/rsif.2024.0860. Epub 2025 Mar 12.
3
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.
bioRxiv. 2024 Nov 25:2024.11.25.625261. doi: 10.1101/2024.11.25.625261.
4
Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families.
Iran Biomed J. 2024 Sep 1;28(5 & 6):297-304. doi: 10.61186/ibj.4018.
5
COL6A1 Inhibits the Malignant Development of Bladder Cancer by Regulating FBN1.
Cell Biochem Biophys. 2025 Jun;83(2):1631-1643. doi: 10.1007/s12013-024-01573-6. Epub 2024 Oct 4.
6
Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.
Mol Syndromol. 2024 Aug;15(4):311-316. doi: 10.1159/000536344. Epub 2024 Feb 26.
7
Type VI Collagen Deficiency Causes Enhanced Periodontal Tissue Destruction.
J Dent Res. 2024 Aug;103(9):878-888. doi: 10.1177/00220345241256306. Epub 2024 Jun 24.
8
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
Front Genet. 2024 May 15;15:1365729. doi: 10.3389/fgene.2024.1365729. eCollection 2024.
9
Optimized allele-specific silencing of the dominant-negative G293R substitution causing collagen VI-related dystrophy.
Mol Ther Nucleic Acids. 2024 Mar 22;35(2):102178. doi: 10.1016/j.omtn.2024.102178. eCollection 2024 Jun 11.
10
A humanized knock-in mouse recapitulates a deep-intronic splice-activating variant.
bioRxiv. 2024 Mar 22:2024.03.21.581572. doi: 10.1101/2024.03.21.581572.
本文引用的文献
1
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754.
2
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24.
3
The congenital muscular dystrophies in 2004: a century of exciting progress.
Neuromuscul Disord. 2004 Oct;14(10):635-49. doi: 10.1016/j.nmd.2004.06.009.
4
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.
Prenat Diagn. 2004 Jun;24(6):440-4. doi: 10.1002/pd.902.
5
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
Neuropediatrics. 2004 Apr;35(2):103-12. doi: 10.1055/s-2004-815832.
6
Ullrich disease due to deficiency of collagen VI in the sarcolemma.
Neurology. 2004 Feb 24;62(4):620-3. doi: 10.1212/01.wnl.0000113023.84421.00.
7
Muscle ultrasound in Bethlem myopathy.
Neuropediatrics. 2003 Dec;34(6):335-6. doi: 10.1055/s-2003-44665.
8
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands.
Neuromuscul Disord. 2004 Jan;14(1):56-69. doi: 10.1016/j.nmd.2003.09.003.
9
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.
Nat Genet. 2003 Dec;35(4):367-71. doi: 10.1038/ng1270. Epub 2003 Nov 16.
10
Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders.
Eur Respir J. 2003 Oct;22(4):631-6. doi: 10.1183/09031936.03.00044303a.
Zotero 插件