Osteogenesis imperfecta
A Forlino, JC Marini - The Lancet, 2016 - thelancet.com
Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of
inherited connective tissue disorders that share similar skeletal abnormalities causing bone …
inherited connective tissue disorders that share similar skeletal abnormalities causing bone …
[HTML][HTML] Bone Morphogenetic Protein (BMP) signaling in development and human diseases
Abstract Bone Morphogenetic Proteins (BMPs) are a group of signaling molecules that
belongs to the Transforming Growth Factor-β (TGF-β) superfamily of proteins. Initially …
belongs to the Transforming Growth Factor-β (TGF-β) superfamily of proteins. Initially …
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment
FS Van Dijk, DO Sillence - … journal of medical genetics Part A, 2014 - Wiley Online Library
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by
Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic …
Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic …
Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare OI types
Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal
dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity …
dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity …
Bisphosphonate therapy for osteogenesis imperfecta
K Dwan, CA Phillipi, RD Steiner… - Cochrane database of …, 2016 - cochranelibrary.com
Background Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal
type I collagen bone matrix which typically results in multiple fractures with little or no …
type I collagen bone matrix which typically results in multiple fractures with little or no …
Osteogenesis imperfecta
JC Marini, WA Cabral - Genetics of bone biology and skeletal disease, 2018 - Elsevier
Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …
Osteogenesis imperfecta–a clinical update
S Tournis, AD Dede - Metabolism, 2018 - Elsevier
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and
includes a heterogenous group of genetic disorders which most commonly result from …
includes a heterogenous group of genetic disorders which most commonly result from …
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes… - The American Journal of …, 2013 - cell.com
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis
imperfecta, a congenital disorder characterized by reduced bone mass and recurrent …
imperfecta, a congenital disorder characterized by reduced bone mass and recurrent …
Collagen transport and related pathways in Osteogenesis Imperfecta
L Claeys, S Storoni, M Eekhoff, M Elting, L Wisse… - Human genetics, 2021 - Springer
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone
fragility and deformities as the main characteristics, albeit with different degrees of severity …
fragility and deformities as the main characteristics, albeit with different degrees of severity …
A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder
associated with bone fragility and susceptibility to fractures after minimal trauma. OI type V …
associated with bone fragility and susceptibility to fractures after minimal trauma. OI type V …