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Fibrillogenesis is the development of fine fibrils normally present in collagen fibers of connective tissue.It is derived from the New Latin fibrilla (meaning fibrils, or pertaining to fibrils) and Greek genesis (to create, the process by which something is created).
Collagen alpha-3(VI) chain is a protein that in humans is encoded by the COL6A3 gene. [ 5 ] [ 6 ] [ 7 ] This protein is an alpha chain of type VI collagen that aids in microfibril formation. [ 8 ] As part of type VI collagen, this protein has been implicated in Bethlem myopathy, Ullrich congenital muscular dystrophy (UCMD), and other diseases ...
Collagen is also abundant in corneas, blood vessels, the gut, intervertebral discs, and the dentin in teeth. [3] In muscle tissue, it serves as a major component of the endomysium. Collagen constitutes 1% to 2% of muscle tissue and accounts for 6% of the weight to skeletal muscle. [4] The fibroblast is the most common cell creating collagen in ...
Ventricular fibrillation is a tachyarrhythmia characterized by turbulent electrical activity in the ventricular myocardium leading to a heart rate too disorganized and rapid to produce any meaningful cardiac output, thus resulting in insufficient perfusion of the brain and essential organs. [58]
Fibrillation is the rapid, irregular, and unsynchronized contraction of muscle fibers. An important occurrence is with regard to the heart. Cardiology.
Atrial fibrillation is associated with an increased risk of heart failure, dementia, and stroke. [3] [12] It is a type of supraventricular tachycardia. [14] Atrial fibrillation frequently results from bursts of tachycardia that originate in muscle bundles extending from the atrium to the pulmonary veins. [15]
12833 Ensembl ENSG00000142156 ENSMUSG00000001119 UniProt P12109 Q04857 RefSeq (mRNA) NM_001848 NM_009933 RefSeq (protein) NP_001839 NP_034063 Location (UCSC) Chr 21: 45.98 – 46.01 Mb Chr 10: 76.54 – 76.56 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene. Function The collagens are a superfamily of ...
Rare cases of collagen VI related myopathies with phenotypes of intermediate severity have been reported. [28] Whole genome sequencing reveals that these intermediate phenotypes most likely result from a premature translation termination codon caused by a variation in the COL6A3 gene , as well as an amino acid substitution in the N2-terminal ...