Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
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Ehlers-Danlos syndrome type IVDoxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndromeHaploinsufficiency 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 laminationVascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.Presymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome.Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.P63 gene mutations and human developmental syndromes.The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome.GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migrationHomozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyGene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.Diminished type III collagen promotes myofibroblast differentiation and increases scar deposition in cutaneous wound healing.Collagen expression in fibroblasts with a novel LMNA mutationAllele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblastsDifferences between Mice and Humans in Regulation and the Molecular Network of Collagen, Type III, Alpha-1 at the Gene Expression Level: Obstacles that Translational Research Must Overcome.Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.Aortic disease in the young: genetic aneurysm syndromes, connective tissue disorders, and familial aortic aneurysms and dissectionsThe type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.Combinatorial interaction between CCM pathway genes precipitates hemorrhagic stroke.Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.N-(2-Aminoethyl) Ethanolamine-Induced Morphological, Biochemical, and Biophysical Alterations in Vascular Matrix Associated With Dissecting Aortic Aneurysm.A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease.Vascular extracellular matrix and arterial mechanics.Understanding vascular-type Ehlers-Danlos syndrome and avoiding vascular complications.Prediction and Analysis of Key Genes in Glioblastoma Based on Bioinformatics.The extracellular matrix of the dermis: flexible structures with dynamic functions.The Ehlers-Danlos syndrome, a disorder with many faces.Development and pathologies of the arterial wall.Aetiology and management of hereditary aortopathy.Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.Gene expression profiles in intracranial aneurysms.Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.Vascular Ehlers-Danlos syndrome: exploring the role of inflammation in arterial disease.A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms.Vascular Smooth Muscle Cells and Arterial Stiffening: Relevance in Development, Aging, and Disease.Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.
P2860
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P2860
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@ast
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@en
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@nl
type
label
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@ast
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@en
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@nl
prefLabel
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@ast
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@en
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@nl
P2093
P2860
P356
P1476
Haploinsufficiency for one COL ...... hlers-Danlos syndrome type IV.
@en
P2093
D Babovic-Vuksanovic
K J Cherry
U Schwarze
W I Schievink
P2860
P304
P356
10.1086/324123
P407
P577
2001-09-27T00:00:00Z