|
Lobstein Disease
|
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 |
|
Lobstein Disease
|
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 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
|
27484908 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges.
|
18845533 |
2008 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
|
15931785 |
2005 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
|
28378289 |
2017 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
|
24390061 |
2014 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
|
15864348 |
2005 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
|
26627451 |
2015 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].
|
16638323 |
2006 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
|
24668929 |
2014 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
|
9101304 |
1997 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
|
9443882 |
1998 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
|
23587214 |
2013 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.
|
27044453 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Osteogenesis Imperfecta: A Review with Clinical Examples.
|
22570641 |
2011 |
|
Lobstein Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.
|
10686420 |
2000 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.
|
1445258 |
1992 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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.
|
17078022 |
2007 |
|
Lobstein Disease
|
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 |
|
Lobstein Disease
|
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 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
|
23692737 |
2013 |
|
Lobstein Disease
|
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 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
|
7691343 |
1993 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain.
|
10931857 |
2000 |