Update on the genetics of osteogenesis imperfecta

M Jovanovic, JC Marini - Calcified Tissue International, 2024 - Springer
Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized
by bone fragility and deformity, growth deficiency, and other secondary connective tissue …

[HTML][HTML] The mechanism of biomineralization: Progress in mineralization from intracellular generation to extracellular deposition

X Yan, Q Zhang, X Ma, Y Zhong, H Tang… - Japanese Dental Science …, 2023 - Elsevier
Biomineralization is a highly regulated process that results in the deposition of minerals in a
precise manner, ultimately producing skeletal and dental hard tissues. Recent studies have …

NAD+ dependent UPRmt activation underlies intestinal aging caused by mitochondrial DNA mutations

L Yang, Z Ruan, X Lin, H Wang, Y Xin, H Tang… - Nature …, 2024 - nature.com
Aging in mammals is accompanied by an imbalance of intestinal homeostasis and
accumulation of mitochondrial DNA (mtDNA) mutations. However, little is known about how …

ATF5 promotes malignant T cell survival through the PI3K/AKT/mTOR pathway in cutaneous T cell lymphoma

M Cao, P Lai, X Liu, F Liu, Y Qin, P Tu… - Frontiers in …, 2023 - frontiersin.org
Backgrounds Cutaneous T cell lymphoma (CTCL) is a non-Hodgkin lymphoma
characterized by skin infiltration of malignant T cells. The biological overlap between …

High‐Performance Hydrogel‐Encapsulated Engineered Exosomes for Supporting Endoplasmic Reticulum Homeostasis and Boosting Diabetic Bone Regeneration

Y Liu, S Lin, Z Xu, Y Wu, G Wang, G Yang… - Advanced …, 2024 - Wiley Online Library
The regeneration of bone defects in diabetic patients still faces challenges, as the intrinsic
healing process is impaired by hyperglycemia. Inspired by the discovery that the …

Extra-skeletal manifestations in Osteogenesis Imperfecta Mouse Models

TK Crawford, BN Lafaver, CL Phillips - Calcified Tissue International, 2024 - Springer
Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal
fragility with an incidence of roughly 1: 15,000. Approximately 85% of the pathogenic …

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function–A multi-omics study

M Jovanovic, A Mitra, R Besio, BM Contento, KW Wong… - Matrix Biology, 2023 - Elsevier
Osteogenesis Imperfecta (OI) is a heritable collagen-related bone dysplasia characterized
by bone fractures, growth deficiency and skeletal deformity. Type XIV OI is a recessive OI …

[HTML][HTML] Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta

A Infante, N Alcorta-Sevillano, I Macías… - Biomedicine & …, 2024 - Elsevier
Qualitative alterations in type I collagen due to pathogenic variants in the COL1A1 or
COL1A2 genes, result in moderate and severe Osteogenesis Imperfecta (OI), a rare disease …

ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis

KM Yammine, SM Abularach, S Kim… - Life Science …, 2024 - life-science-alliance.org
Collagenopathies are a group of clinically diverse disorders caused by defects in collagen
folding and secretion. For example, mutations in the gene encoding collagen type-II, the …

RNA-based bone histomorphometry: method and its application to explaining postpubertal bone gain in a G610C mouse model of osteogenesis imperfecta

E Makareeva, M Sousa, T Kent… - Journal of Bone and …, 2024 - academic.oup.com
Bone histomorphometry is a well-established approach to assessing skeletal pathology,
providing a standard evaluation of the cellular components, architecture, mineralization, and …