Molecular and cellular mechanisms of osteoporosis

IV Zhivodernikov, TV Kirichenko, YV Markina… - International journal of …, 2023 - mdpi.com
Osteoporosis is a widespread systemic disease characterized by a decrease in bone mass
and an imbalance of the microarchitecture of bone tissue. Experimental and clinical studies …

Generic platform for the multiplexed targeted electrochemical detection of osteoporosis-associated single nucleotide polymorphisms using recombinase polymerase …

M Ortiz, M Jauset-Rubio, O Trummer, I Foessl… - ACS Central …, 2023 - ACS Publications
Osteoporosis is a multifactorial disease influenced by genetic and environmental factors,
which contributes to an increased risk of bone fracture, but early diagnosis of this disease …

Rare genetic variants of large effect influence risk of type 1 diabetes

V Forgetta, D Manousaki, R Istomine, S Ross… - Diabetes, 2020 - Am Diabetes Assoc
Most replicated genetic determinants for type 1 diabetes are common (minor allele
frequency [MAF]> 5%). We aimed to identify novel rare or low-frequency (MAF< 5%) single …

Assessment of the genetic and clinical determinants of hip fracture risk: Genome-wide association and Mendelian randomization study

M Nethander, E Coward, E Reimann, L Grahnemo… - Cell Reports …, 2022 - cell.com
Hip fracture is the clinically most important fracture, but the genetic architecture of hip
fracture is unclear. Here, we perform a large-scale hip fracture genome-wide association …

Osteoporosis and bone mass disorders: from gene pathways to treatments

F Rivadeneira, O Mäkitie - Trends in Endocrinology & Metabolism, 2016 - cell.com
Genomic technologies have evolved rapidly contributing to the understanding of diseases.
Genome-wide association studies (GWAS) and whole-exome sequencing have aided the …

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

K Saleem, T Zaib, W Sun, S Fu - Heliyon, 2019 - cell.com
Non syndromic orofacial clefts specifically non-syndromic cleft lip/palate are one of the most
common craniofacial malformation among birth defects in human having multifactorial …

Maternal vitamin D supplementation during pregnancy

EM Curtis, RJ Moon, NC Harvey… - British medical …, 2018 - academic.oup.com
Introduction Maternal vitamin D status in pregnancy has been linked to many health
outcomes in mother and offspring. A wealth of observational studies have reported on both …

[PDF][PDF] Intersecting single-cell transcriptomics and genome-wide association studies identifies crucial cell populations and candidate genes for atherosclerosis

L Slenders, LPL Landsmeer, K Cui… - … heart journal open, 2022 - academic.oup.com
Aims Genome-wide association studies (GWASs) have discovered hundreds of common
genetic variants for atherosclerotic disease and cardiovascular risk factors. The translation of …

[HTML][HTML] The role of genetic and epigenetic factors in determining the risk of spinal fragility fractures: new insights in the management of spinal osteoporosis

V Himič, N Syrmos, GKI Ligarotti, S Kato… - … Imaging in Medicine …, 2023 - ncbi.nlm.nih.gov
Osteoporosis predisposes patients to spinal fragility fractures. Imaging plays a key role in the
diagnosis and prognostication of these osteoporotic vertebral fractures (OVF). However, the …

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip±cleft palate and cleft palate only

KU Ludwig, AC Böhmer, J Bowes… - Human molecular …, 2017 - academic.oup.com
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common
human birth defects with multifactorial etiology. Here, we present results from a genome …