Large-scale circulating proteome association study (CPAS) meta-analysis identifies circulating proteins and pathways predicting incident hip fractures
TR Austin, HA Fink, DI Jalal, AE Törnqvist… - Journal of Bone and …, 2024 - academic.oup.com
Hip fractures are associated with significant disability, high cost, and mortality. However, the
exact biological mechanisms underlying susceptibility to hip fractures remain incompletely …
exact biological mechanisms underlying susceptibility to hip fractures remain incompletely …
Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know
Clinical genetic testing may identify the appropriate diagnosis in a subset of patients with
low bone mass, multiple or unusual fractures, and severe or early-onset osteoporosis, and …
low bone mass, multiple or unusual fractures, and severe or early-onset osteoporosis, and …
A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies
DA Al-Mutairi, AA Jarragh, BH Alsabah, MN Wein… - JBMR plus, 2024 - academic.oup.com
Osteogenesis imperfecta (OI) is a heterogeneous spectrum of hereditary genetic disorders
that cause bone fragility, through various quantitative and qualitative defects of type 1 …
that cause bone fragility, through various quantitative and qualitative defects of type 1 …
Osteocyte Sptbn1 Deficiency Alters Cell Survival and Mechanotransduction Following Formation of Plasma Membrane Disruptions (PMD) from Mechanical Loading
ML Hagan, A Tuladhar, K Yu, DW Alhamad… - Calcified Tissue …, 2024 - Springer
We and others have shown that application of high-level mechanical loading promotes the
formation of transient plasma membrane disruptions (PMD) which initiate …
formation of transient plasma membrane disruptions (PMD) which initiate …
Identification of an novel genetic variant associated with osteoporosis: insights from the Taiwan Biobank Study
Purpose The purpose of this study was to identify new independent significant SNPs
associated with osteoporosis using data from the Taiwan Biobank (TWBB). Material and …
associated with osteoporosis using data from the Taiwan Biobank (TWBB). Material and …
Genome‐wide study identifies novel genes associated with bone toxicities in children with acute lymphoblastic leukaemia
Q Zhu, R Nambiar, E Schultz, X Gao… - British Journal of …, 2024 - Wiley Online Library
Bone toxicities are common among paediatric patients treated for acute lymphoblastic
leukaemia (ALL) with potentially major negative impact on patients' quality of life. To identify …
leukaemia (ALL) with potentially major negative impact on patients' quality of life. To identify …
EPSTI1 promotes osteoclast differentiation and bone resorption by PKR/NF-κB signaling
M Zhang, E Yang, X Qin, S Zhang, Y Zhu, H Fu… - Biochemical and …, 2024 - Elsevier
Background Epithelial stromal interaction 1 (EPSTI1) plays an important role in M1
macrophages, which induce osteoclastogenesis. One recent genome-wide association …
macrophages, which induce osteoclastogenesis. One recent genome-wide association …
Causal associations of interleukins and osteoporosis: A genetic correlation study
H Chen, H Lin, J Dai - Medicine, 2024 - journals.lww.com
The association between interleukins and osteoporosis has attracted much attention these
days. However, the causal relationship between them is uncertain. Hence, this study …
days. However, the causal relationship between them is uncertain. Hence, this study …
Consequences of perinatal vitamin D deficiency on later bone health
Vitamin D has important roles in calcium metabolism and in the prevention of rickets and
osteomalacia. There is also increasing evidence to suggest a role for vitamin D in …
osteomalacia. There is also increasing evidence to suggest a role for vitamin D in …
Whole‐exome sequencing and copy number alterations analysis in a case of expansive florid cemento‐osseous dysplasia
Key Clinical Message Whole‐exome sequencing (WES) analysis of an expansive case florid
cemento‐osseus dysplasia were reported for the first time. Also, the new potential candidate …
cemento‐osseus dysplasia were reported for the first time. Also, the new potential candidate …