Genetics of bone and muscle interactions in humans
K Trajanoska, F Rivadeneira, DP Kiel… - Current osteoporosis …, 2019 - Springer
Abstract Purpose of Review To summarize the evidence from recent studies on the shared
genetics between bone and muscle in humans. Recent Findings Genome-wide association …
genetics between bone and muscle in humans. Recent Findings Genome-wide association …
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
Background The genetics of osteogenesis imperfecta (OI) have not been studied in a
Vietnamese population before. We performed mutational analysis of the COL1A1 and …
Vietnamese population before. We performed mutational analysis of the COL1A1 and …
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
Heat shock protein 47 (HSP47), encoded by the SERPINH1 gene, is a molecular chaperone
essential for correct folding of collagens. We report a homozygous p.(R222S) substitution in …
essential for correct folding of collagens. We report a homozygous p.(R222S) substitution in …
Collagen chaperones
AL Møller, SN Kehlet, AS Siebuhr, NS Gudmann… - … of Collagens, Laminins …, 2024 - Elsevier
Collagen biosynthesis requires many interacting components, such as enzymes, proteins,
and chaperones. Collagen prolyl hydroxylases are the key enzymes in collagen synthesis …
and chaperones. Collagen prolyl hydroxylases are the key enzymes in collagen synthesis …
[PDF][PDF] Differential effects of prolyl-3-hydroxylases 1 and 4 on collagen biosynthesis highlight prolyl-3-hydroxylase 4 as a potential novel drug target in pulmonary …
C Onursal - 2023 - edoc.ub.uni-muenchen.de
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, and incurable interstitial lung
disease (ILD) with an average life expectancy of generally 2-5 years following diagnosis and …
disease (ILD) with an average life expectancy of generally 2-5 years following diagnosis and …
Autosomal recessive osteogenesis imperfecta: a puzzle for bone formation, structure and function
SP Boudko, EN Pokidysheva, HP Bächinger - Current Genetic Medicine …, 2013 - Springer
Bone is a composite material that resembles reinforced concrete. The collagen matrix plays
the role of reinforcement, whereas hydroxyapatite crystals are cementing material. Collagen …
the role of reinforcement, whereas hydroxyapatite crystals are cementing material. Collagen …
A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t (1; 20)(p13; p11. 2)
NK Majeed, D Oramas, V Lindgren… - Fetal and Pediatric …, 2019 - Taylor & Francis
Background: Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized
by bone fragility, multiple fractures, severe bowing and shortening of long bones, and …
by bone fragility, multiple fractures, severe bowing and shortening of long bones, and …