Fibrillin 1 Clinical significance
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Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves...- Asprosin (section Fibrillin-1)seen to have two consequences for protein production: a mutant/truncated fibrillin protein and very low plasma asprosin levels (from a postulated dominant...
Basement membrane (section Clinical significance)attaches to the basal lamina with collagen VII anchoring fibrils and fibrillin microfibrils. The basal lamina layer can further be subdivided into two...
Connective tissue (section Clinical significance)organs such as the cornea.: 161 Elastic fibers, made from elastin and fibrillin, also provide resistance to stretch forces.: 171 They are found in the...
Elastin (section Clinical significance)Elastic fiber in the body is a mixture of amorphous elastin and fibrous fibrillin. Both components are primarily made of smaller amino acids such as glycine...- RCCX (section Clinical significance)Tenascin X interacts with other extracellular matrix proteins such as fibrillin-1 and collagen and is thought to play a role in regulating their organization...
underlying defect in Marfan syndrome is faulty synthesis of the glycoprotein fibrillin I, normally an important component of elastic fibers, it has been shown...
Calmodulin-regulated spectrin-associated protein 1 (CAMSAP1) is a human protein encoded by the gene CAMSAP1. Like other CAMSAP-family proteins, it is...
Filaggrin (category Genes on human chromosome 1)dermatitis with allergic sensitizations". The Journal of Allergy and Clinical Immunology. 118 (1): 214–9. doi:10.1016/j.jaci.2006.05.004. PMID 16815158. Nomura...
Vimentin (section Clinical significance)2003). "The role of Vif during HIV-1 infection: interaction with novel host cellular factors". Journal of Clinical Virology. 26 (2): 143–152. doi:10...
Keratin (section Clinical significance)Hanada, Shinichiro (1 July 2009). "Toward unraveling the complexity of simple epithelial keratins in human disease". Journal of Clinical Investigation. 119...
immunol.17.1.905. PMID 10358777. Thrasher AJ, Kinnon C (April 2000). "The Wiskott-Aldrich syndrome". Clinical and Experimental Immunology. 120 (1): 2–9. doi:10...
S2CID 52139917. Clinical trial number NCT02117362 for "Galectin Inhibitor (GR-MD-02) and Ipilimumab in Patients With Metastatic Melanoma" at ClinicalTrials.gov...
Tau protein (section Clinical significance)(December 2022). "Distribution of five clinically important neuroglial proteins in the human brain". Molecular Brain. 15 (1): 52. doi:10.1186/s13041-022-00935-6...
EFEMP1 (section Clinical significance)assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin". Genomics. 35 (3): 590–2. doi:10.1006/geno.1996.0402. PMID 8812496. Lecka-Czernik...
Plakophilin-2 (section Clinical significance)the clinical diagnosis of cardiac myxomata. PKP2 has been shown to interact with: ankyrin G, beta catenin, desmocollin 1, desmocollin 2, desmoglein 1, desmoglein...
MYH6 (section Clinical significance)during development and pressure overload in human atrium". The Journal of Clinical Investigation. 82 (2): 524–31. doi:10.1172/JCI113627. PMC 303543. PMID 2969919...
asymptomatic people. High sensitive troponin I has been proven to have superior clinical performance versus high sensitivity troponin T in patients with renal impairment...- neuromuscular junctions. Splice variants f and g have >99% similarity to fibrillin-1, an ECM protein that is a structural component of calcium binding microfibrils...
Actin, alpha skeletal muscle (redirect from Actin, alpha 1)muscle is a protein that in humans is encoded by the ACTA1 gene. Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms...
