×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
Biomarker
disease
BEFREE
Currently, heterozygous Mov-13 mice generated by virus insertion in the first intron of col1a1 is the exclusive model to modulate OI type I , in spite of the gradually recovered bone mineral and mechanical properties.
31369917
2019
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
GeneticVariation
disease
BEFREE
Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1 , c.3162delT mutation.
31715426
2019
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
GeneticVariation
disease
BEFREE
Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation.
29543922
2018
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
28102596
2017
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
28378289
2017
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
GeneticVariation
disease
BEFREE
They have a more severe form of type I OI with features of EDS that represents their compound heterozygosity for two deleterious COL1A1 mutations.
28436160
2017
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
28498836
2017
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
28810924
2017
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
27510842
2017
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
28116328
2017
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
27484908
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.
27044453
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
GeneticVariation
disease
BEFREE
In summary, we found deletions of COL1A1 in 5 out of 161 families (3 %) with OI type I that were evaluated.
26478226
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
27132807
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.
26712438
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
GeneticVariation
disease
BEFREE
All mutations found in OI type I were dominant and exclusively affected COL1A1 or COL1A2.
27509835
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
GeneticVariation
disease
BEFREE
The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.
27044453
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
27748872
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
Biomarker
disease
BEFREE
COL1A1 and COL1A2 were analyzed in 79 children with OI (type I n=33, type III n=25 and type IV n=21) treated with Pamidronate.
26957348
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
27509835
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
GeneticVariation
disease
CLINVAR
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
27519266
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
27519266
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
GeneticVariation
disease
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.
25963598
2015
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
1.000
CausalMutation
disease
CLINVAR
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
26627451
2015