38332 research outputs found
Sort by
Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies
No full textKDM2B encodes an epigenetic regulator that binds to promoter-associated CpG islands via its CxxC zinc-finger domain, protecting them from DNA methylation. It also helps establish transcriptional programs essential for development by recruiting the non-canonical Polycomb Repressive Complex 1.1 to lineage-specific genes.
Heterozygous variants in KDM2B were recently associated with a neurodevelopmental disorder. Notably, some individuals with variants in the CxxC domain also exhibited congenital heart, kidney and/or structural eye anomalies.
By screening 706 families with developmental eye disorders, we identified two cases with KDM2B-CxxC variants, NM_032590.5:c.1841G>C;p.(Arg614Pro) and NM_032590.5:c.1880G>C;p.(Cys627Ser), both resulting in a characteristic KDM2B DNA episignature. Both individuals exhibited complex structural eye defects, with neurodevelopmental, cardiac and renal anomalies variably present.
These cases strengthen the association between KDM2B-CxxC variants and eye, kidney and heart malformations, and highlight the importance of testing this gene and its episignature in individuals with structural eye disorders, especially when accompanied by congenital cardiac and/or renal anomalies
Resources Availability Driven Design (RADD) approach in circular architecture, engineering and construction using decommissioned materials
Full text linkThe Architecture, Engineering, and Construction (AEC) sector faces critical challenges in implementing circularity due to the geometric unpredictability of salvaged materials. This paper proposes the Resources Availability Driven Design (RADD) framework, a unified cyber-physical system composed of three modules: 1) the Material Reclamation System (MRS) for real-time 3D digitisation and "Material Passports"; 2) Structural Typological Optimisation and Assessment (STOA), which utilizes the Wave Function Collapse (WFC) algorithm to translate physical tectonic constraints into generative design rules; and 3) Extended Reality-Assisted Assembly (XRAA) for precision, non-expert construction. Validated through a case study using materials from London’s M&S flagship store and iterative prototyping, the framework successfully increased material utilisation and achieved algorithmic convergence across 2,820 modules. RADD bridges material unpredictability with formal intelligence, offering a scalable, user-engaged model for sustainable architectural practice