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 …

Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know

E Busse, B Lee, S Nagamani - Current Osteoporosis Reports, 2024 - Springer
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 …

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 …

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 …

Identification of an novel genetic variant associated with osteoporosis: insights from the Taiwan Biobank Study

YC Liaw, K Matsuda, YP Liaw - JBMR plus, 2024 - academic.oup.com
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 …

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 …

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 …

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 …

Consequences of perinatal vitamin D deficiency on later bone health

RJ Moon, EM Curtis, JK Cleal, EM Dennison… - Feldman and Pike's …, 2024 - Elsevier
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 …

Whole‐exome sequencing and copy number alterations analysis in a case of expansive florid cemento‐osseous dysplasia

CC Gomes, VC Bastos, A El Mouatani… - Clinical Case …, 2024 - Wiley Online Library
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 …