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Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfectaHeterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceLaminin database: a tool to retrieve high-throughput and curated data for studies on lamininsMutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationshipsOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentMutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort studyPresymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome.High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.Subarachnoid hemorrhage secondary to a ruptured middle cerebral aneurysm in a patient with osteogenesis imperfecta: a case report.Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen.MatrixDB, the extracellular matrix interaction databaseHomozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.Fusiform aneurysm presenting with cervical radiculopathy in ehlers-danlos syndromeVariobox: automatic detection and annotation of human genetic variants.Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese familymiR-29a/b enhances cell migration and invasion in nasopharyngeal carcinoma progression by regulating SPARC and COL3A1 gene expression.Genotype-phenotype correlations in autosomal dominant osteogenesis imperfectaA single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycineOsteogenesis imperfecta missense mutations in collagen: structural consequences of a glycine to alanine replacement at a highly charged site.Osteogenesis Imperfecta: A Review with Clinical Examples.Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance MicroimagingIncreased Young's modulus and hardness of Col1a2oim dentin.Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.Role of genetic background in determining phenotypic severity throughout postnatal development and at peak bone mass in Col1a2 deficient mice (oim).Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsHelical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutationsMapping the Effect of Gly Mutations in Collagen on α2β1 Integrin Binding.Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
The Human Collagen Mutation Database 1998.
@en
The Human Collagen Mutation Database 1998.
@nl
type
label
The Human Collagen Mutation Database 1998.
@en
The Human Collagen Mutation Database 1998.
@nl
prefLabel
The Human Collagen Mutation Database 1998.
@en
The Human Collagen Mutation Database 1998.
@nl
P2860
P356
P1476
The Human Collagen Mutation Database 1998.
@en
P2093
Dalgleish R
P2860
P304
P356
10.1093/NAR/26.1.253
P407
P577
1998-01-01T00:00:00Z