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 …
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 …
Engineering a precise adenine base editor with minimal bystander editing
Adenine base editors (ABEs) catalyze A-to-G transitions showing broad applications, but
their bystander mutations and off-target editing effects raise safety concerns. Through …
their bystander mutations and off-target editing effects raise safety concerns. Through …
[HTML][HTML] Bone microenvironment regulative hydrogels with ROS scavenging and prolonged oxygen-generating for enhancing bone repair
Large bone defects resulting from fractures and disease are a major clinical challenge,
being often unable to heal spontaneously by the body's repair mechanisms. Lines of …
being often unable to heal spontaneously by the body's repair mechanisms. Lines of …
Extracellular matrix networks in bone remodeling
AI Alford, KM Kozloff, KD Hankenson - … journal of biochemistry & cell biology, 2015 - Elsevier
Bones are constantly remodeled throughout life to maintain robust structure and function.
Dysfunctional remodeling can result in pathological conditions such as osteoporosis (bone …
Dysfunctional remodeling can result in pathological conditions such as osteoporosis (bone …
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 …
Developmental defects of enamel and dentine: challenges for basic science research and clinical management
WK Seow - Australian dental journal, 2014 - Wiley Online Library
Abnormalities of enamel and dentine are caused by a variety of interacting factors ranging
from genetic defects to environmental insults. The genetic changes associated with some …
from genetic defects to environmental insults. The genetic changes associated with some …
Cell–matrix signals specify bone endothelial cells during developmental osteogenesis
UH Langen, ME Pitulescu, JM Kim… - Nature cell …, 2017 - nature.com
Blood vessels in the mammalian skeletal system control bone formation and support
haematopoiesis by generating local niche environments. While a specialized capillary …
haematopoiesis by generating local niche environments. While a specialized capillary …
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 …
Osteoporosis in children and adolescents: when to suspect and how to diagnose it
Early recognition of osteoporosis in children and adolescents is important in order to
establish an appropriate diagnosis of the underlying condition and to initiate treatment if …
establish an appropriate diagnosis of the underlying condition and to initiate treatment if …