A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
about
Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks sayHaploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndromeG protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and laminationType III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular developmentEhlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IVCharacterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IVEtiologic factors of acute aortic dissection in children and young adults.Hydrolyzed eggshell membrane immobilized on phosphorylcholine polymer supplies extracellular matrix environment for human dermal fibroblasts.Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migrationGenes and abdominal aortic aneurysm.Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locusSmall leucine-rich proteoglycans exhibit unique spatiotemporal expression profiles during cardiac valve development.Novel insights into the function and dynamics of extracellular matrix in liver fibrosis.A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.Decreased vascular smooth muscle cell density in medial degeneration of human abdominal aortic aneurysms.The pivotal role of matrix metalloproteinases in the development of human abdominal aortic aneurysms.Induction of aneurysms in the rat by a stenosing cotton ligature around the inter-renal aorta.Extracellular matrix remodeling: the common denominator in connective tissue diseases. Possibilities for evaluation and current understanding of the matrix as more than a passive architecture, but a key player in tissue failure.Genetics of ischaemic stroke; single gene disorders.Valve replacement options in the setting of an ascending aortic aneurysm.Clinical recognition of aortic dissection.Collagens and their abnormalities in a wide spectrum of diseases.Epidemiology and potential for prevention of abdominal aortic aneurysm.A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms.Type III collagen mutations cause fragile cerebral arteries.Thoracic aortic rupture and aortopulmonary fistulation in the Friesian horse: histomorphologic characterization.
P2860
Q24630440-4D9A6F1D-DAE1-4CAB-A0F0-56F18F94EE16Q28507740-940EB83D-F672-49BD-9CED-A335F76F7642Q28512264-6AE594AF-CF38-41A3-98D2-5207BB117DEEQ28588213-475359A9-0B0D-4F43-B603-3CE1039E7A0CQ31902090-EB3E99B8-1D98-4611-BD3A-388352D732EEQ33594086-A9355FA7-89C6-496B-96B2-9F12F9C878B8Q33595705-BBD44F11-2A54-46F4-BCA7-3F37B2AAC190Q33597264-2A934502-9421-49A0-BD2E-943DD13A1CD0Q33851335-0198A4C6-E1FC-4826-ACDB-DC7312AA02B3Q33906757-EE6C6134-FFF3-4B0F-ADC9-9D5A33EAEC64Q34123887-97BE1B20-3B15-4F01-811A-F5F4A6967918Q34301363-E1A9F0FC-42C8-4ED7-B010-398FB8DCF653Q34683905-67E1C260-8954-43E3-872C-DB93A2B40A40Q34731356-F65C7479-E3E0-4F62-9E69-9460077259A5Q35194635-B81DF17C-A15B-4908-9AF1-279FAE17E889Q35195812-0CA58416-782B-4559-8527-9DB04465211EQ35196278-657C6C2A-6658-4EC9-95A6-2613BCA744D7Q35566074-44843DEA-FF84-42AC-80C3-33A3805984BEQ35622533-BE3C7790-31E6-46E1-8A6E-D8CB8E79189BQ35643001-09DB8EDB-3735-4950-8F3A-EB3B0EDB331DQ35763570-A367AF17-6C13-4FC9-8D11-B6B1F619A273Q35763818-7AD86CAC-92D0-4166-AD55-1E9FA8D23F68Q36028219-392B0E97-0256-4AEA-B454-4D15BD5D98E9Q36672445-00D161A5-988E-4FB1-A241-B2E5256591F0Q37244585-6B866033-D46F-4E29-AF0D-59809CFF09B9Q37572800-08BE4166-C3DC-462C-BACF-579F216D6D14Q40485851-D73CABEF-EBC1-4D09-A36A-DDBE53831924Q40853815-C81543C9-46C0-40CA-BAFB-C2158EFB163CQ41720738-53BF5A52-6325-4162-8EEC-EBCA802B8276Q43500373-DC5B085A-19E7-486B-9A99-9D4B3FE6D6B3Q47574480-E4F7CF22-32F8-4DB3-BC32-1D27CC3C3438Q49074922-F5E28D64-D8B2-4104-B6BC-C219D4B47062
P2860
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
description
1990 nî lūn-bûn
@nan
1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
A mutation in the gene for typ ...... family with aortic aneurysms.
@ast
A mutation in the gene for typ ...... family with aortic aneurysms.
@en
A mutation in the gene for type III procollagen
@nl
type
label
A mutation in the gene for typ ...... family with aortic aneurysms.
@ast
A mutation in the gene for typ ...... family with aortic aneurysms.
@en
A mutation in the gene for type III procollagen
@nl
prefLabel
A mutation in the gene for typ ...... family with aortic aneurysms.
@ast
A mutation in the gene for typ ...... family with aortic aneurysms.
@en
A mutation in the gene for type III procollagen
@nl
P2093
P2860
P356
P1476
A mutation in the gene for typ ...... family with aortic aneurysms.
@en
P2093
A M Romanic
D J Prockop
S Kontusaari
P2860
P304
P356
10.1172/JCI114863
P407
P577
1990-11-01T00:00:00Z