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 …
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 …
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome
Individuals with congenital or acquired prolongation of the QT interval, or long QT syndrome
(LQTS), are at risk of life-threatening ventricular arrhythmia,. LQTS is commonly genetic in …
(LQTS), are at risk of life-threatening ventricular arrhythmia,. LQTS is commonly genetic in …
MG53 nucleates assembly of cell membrane repair machinery
Dynamic membrane repair is essential not only for long-term maintenance of cellular
integrity but also for recovery from acute cell injury. While compromised membrane repair …
integrity but also for recovery from acute cell injury. While compromised membrane repair …
Tissue-specific gene repositioning by muscle nuclear membrane proteins enhances repression of critical developmental genes during myogenesis
Whether gene repositioning to the nuclear periphery during differentiation adds another
layer of regulation to gene expression remains controversial. Here, we resolve this by …
layer of regulation to gene expression remains controversial. Here, we resolve this by …
[HTML][HTML] Genome-wide association study on milk production and somatic cell score for Thai dairy cattle using weighted single-step approach with random regression …
S Buaban, K Lengnudum, W Boonkum… - Journal of Dairy …, 2022 - Elsevier
ABSTRACTS Genome-wide association studies are a powerful tool to identify genomic
regions and variants associated with phenotypes. However, only limited mutual confirmation …
regions and variants associated with phenotypes. However, only limited mutual confirmation …
[HTML][HTML] A molecular ensemble in the rER for procollagen maturation
Y Ishikawa, HP Bächinger - Biochimica et Biophysica Acta (BBA)-Molecular …, 2013 - Elsevier
Extracellular matrix (ECM) proteins create structural frameworks in tissues such as bone,
skin, tendon and cartilage etc. These connective tissues play important roles in the …
skin, tendon and cartilage etc. These connective tissues play important roles in the …
The nuclear envelope proteome differs notably between tissues
One hypothesis to explain how mutations in the same nuclear envelope proteins yield
pathologies focused in distinct tissues is that as yet unidentified tissue-specific partners …
pathologies focused in distinct tissues is that as yet unidentified tissue-specific partners …
Ion channels of the sarcolemma and intracellular organelles in Duchenne muscular dystrophy: a role in the dysregulation of ion homeostasis and a possible target for …
MV Dubinin, KN Belosludtsev - International Journal of Molecular …, 2023 - mdpi.com
Duchenne muscular dystrophy (DMD) is caused by the absence of the dystrophin protein
and a properly functioning dystrophin-associated protein complex (DAPC) in muscle cells …
and a properly functioning dystrophin-associated protein complex (DAPC) in muscle cells …
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
R Shaheen, AM Alazami, MJ Alshammari… - Journal of medical …, 2012 - jmg.bmj.com
Background Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased
bone fragility leads to frequent fractures and other complications, usually in an autosomal …
bone fragility leads to frequent fractures and other complications, usually in an autosomal …