[HTML][HTML] Exploring noncoding variants in genetic diseases: from detection to functional insights

K Wu, F Bu, Y Wu, G Zhang, X Wang, S He… - Journal of Genetics and …, 2024 - Elsevier
Previous studies on genetic diseases predominantly focused on protein-coding variations,
overlooking the vast noncoding regions in the human genome. The development of high …

TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta

J Etich, O Semler, NL Stevenson, A Stephan… - EMBO Molecular …, 2023 - embopress.org
Osteogenesis imperfecta (OI) is a rare, hereditary connective tissue disorder, clinically
characterized by bone fragility, bone deformities, and small stature that can be accompanied …

Osteogenesis imperfecta: shifting paradigms in pathophysiology and care in children

S Stasek, F Zaucke, H Hoyer-Kuhn, J Etich… - Journal of Pediatric …, 2024 - degruyter.com
The formation of functional bone requires a delicate interplay between osteogenesis and
osteolysis. Disturbances in this subtle balance result in an increased risk for fractures …

ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder

M Przyklenk, S Karmacharya, D Bonasera… - Scientific Reports, 2024 - nature.com
ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into
cells. Despite substantial research on its role in anthrax poisoning and a proposed function …

Osteogenesis imperfecta and related diseases: collagen I alterations in skeletal and extraskeletal tissues

G Gatto, W Pérez Franco, HK Hoyer-Kuhn… - The Extracellular Matrix …, 2024 - Springer
In this chapter, we review the current knowledge about the complex intracellular
biosynthesis, secretion, and extracellular maturation of collagen I. We focus on the specific …

[PDF][PDF] A Multi-Omics Analysis of Transcription Control by BRD4

AS Bressin - 2023 - pure.mpg.de
ABSTRACT RNA polymerase II (Pol II) regulation during early elongation has emerged as a
regulatory hub in the gene expression of multicellular organisms. Prior research links the …