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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.

Published on Mar 1, 2007
· DOI :10.1002/humu.20429
Joan C. Marini42
Estimated H-index: 42
,
Antonella Forlino29
Estimated H-index: 29
+ 24 AuthorsPeter H. Byers70
Estimated H-index: 70
Abstract
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  • Citations (347)
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Cited By347
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#1Kristofer Andersson (KI: Karolinska Institutet)H-Index: 2
#2Barbro Malmgren (KI: Karolinska Institutet)H-Index: 25
Last. Göran Dahllöf (KI: Karolinska Institutet)H-Index: 34
view all 6 authors...
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causative in approximately 85% of cases. In recent years, recessive variants in genes involved in collagen processing have been found. Hypodontia ( /= 6 missing permanent teeth) have previously been reported in individuals with OI. The aim of the present cross-sectional study was to ...
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#1Cristina GugH-Index: 2
#2Lavinia Caba (Grigore T. Popa University of Medicine and Pharmacy)H-Index: 3
Last. Gorduza Ev (Grigore T. Popa University of Medicine and Pharmacy)H-Index: 3
view all 7 authors...
Abstract Background Osteogenesis imperfecta (OI) is a rare disease characterized by increased bone fragility and predisposition to fractures, bone deformities and other major signs such as dentinogenesis imperfecta, blue sclera and deafness. Over 90% of OI cases are caused by mutations in the COL1A1 and COL1A2 genes and the inheritance is autosomal dominant. Methods We present a case of a couple requesting genetic counseling, because the man was diagnosed with OI on a clinical and radiological b...
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We present the cases of a mother and daughter with osteogenesis imperfecta, also diagnosed later with rheumatoid arthritis. In our patients finding and treating the over-imposed arthritis improved the joint pain initially attributed to osteogenesis imperfecta. Exploring joint inflammation in this setting could help ease the disease burden. PURPOSE: Osteogenesis imperfecta (OI) is a rare hereditary disease evolving with recurrent fractures upon minor trauma, blue sclerae, and hearing loss. Althou...
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#1Mingyan Ju (Tianjin Medical University)H-Index: 1
#2Xue BaiH-Index: 1
Last. Guang Li (Tianjin Medical University)H-Index: 8
view all 12 authors...
High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1/COL1A2 mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. Peripheral blood samples were collected from the 87 non-consanguineous probands. The coding regions and exon boundaries of COL1A1/...
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#1Silvia MorlinoH-Index: 9
#2Lucia Micale (Casa Sollievo della Sofferenza)H-Index: 18
Last. Marco Castori (Casa Sollievo della Sofferenza)H-Index: 5
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The 2017 classification of Ehlers‐Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described with variable features of both disorders, and causative variants in COL1A1/COL1A2; but this phenotype has not been included in the current classification. Here, we expand and re‐define this OI/EDS overlap as a missing EDS type. Twenty‐one individuals from 13 families were report...
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#1Ruibing Li (Chinese PLA General Hospital)H-Index: 1
#1Ruibing Li (Chinese PLA General Hospital)
Last. Chengbin Wang (Chinese PLA General Hospital)H-Index: 1
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BACKGROUND: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre-implantation. The present study aims to identify the causative mutation in two unrelated outbred Han-Chinese families. METHOD: Two short-limb fetuses were referred to our hospital. Genomic DNA was extracted from the amniotic fluid of the short-limb fetuses and from peripheral blood of their parents. To...
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#1Yanjiao Li (Kunming University)H-Index: 1
Last. Min Hu (Kunming University)H-Index: 1
view all 15 authors...
Osteogenesis imperfecta (OI) is a rare heritable disease with systemic connective tissue disorder. Most of the patients represent autosomal dominant form of OI, and are usually resulting from the mutations in type I collagen genes. However, the gene mutations reported previously only account for approximately 70% of the OI cases. Here, in a Chinese OI family, we examined seven patients and nine normal individuals using the whole genome sequencing and molecular genetic analysis. The mutation of r...
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#1Xiuxia Sun (Lanzhou University)H-Index: 4
#2Linyan Yao (Lanzhou University)H-Index: 1
Last. Jianxi Xiao (Lanzhou University)H-Index: 4
view all 6 authors...
Collagen with a single amino acid substitution is the main cause of a plethora of heritable disorders such as Osteogenesis Imperfecta and Ehlers-Danlos syndrome. Though significant advances have been achieved in the development of protein assays, it remains very challenging to distinguish a protein with a single amino acid mutation from the wild-type protein. A novel fluorescent self-quenching assay has been constructed to detect target collagen peptides with a single amino acid mutation using t...
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#1Martin FalkH-Index: 5
Last. Michael P. BrennerH-Index: 58
view all 4 authors...
Collagen consists of three peptides twisted together through a periodic array of hydrogen bonds. Here we use this as inspiration to find design rules for programmed specific interactions for self-assembling synthetic collagenlike triple helices, starting from disordered configurations. The assembly generically nucleates defects in the triple helix, the characteristics of which can be manipulated by spatially varying the enthalpy of helix formation. Defect formation slows assembly, evoking kineti...
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#1Anna Letko (University of Bern)H-Index: 3
#2Isabel ZdoraH-Index: 1
Last. Cord Drögemüller (University of Bern)H-Index: 30
view all 7 authors...
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