Results 221 to 230 of about 34,637 (273)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +1 more source

An Artificial Molecular Pump Powered by Light

open access: yesAngewandte Chemie, EarlyView.
A minimal rotaxane‐based supramolecular system functions as a light‐powered molecular pump, capturing macrocycles from solution and concentrating them within an intramolecular compartment. Repeated azobenzene photoisomerization modulates the binding and kinetic barriers of threading and shuttling, generating a photon‐driven energy ratchet that sustains
Federico Nicoli   +7 more
wiley   +2 more sources

Multi‐omics data mining combined with experimental validation reveals ferroptosis‐ and autophagy‐associated hub genes as diagnostic candidates and immune modulators in atherosclerosis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Using the GSE225650 dataset, we performed differential expression gene (DEG) screening, Weighted Gene Coexpression Network Analysis (WGCNA), and immune infiltration profiling on atherosclerosis (AS) samples, yielding 104 shared candidate genes. Subsequently, these 104 candidate genes were intersected with ferroptosis‑ and autophagy‑related gene sets ...
Xinou Zheng   +6 more
wiley   +1 more source

Multimaterial Triphasic Scaffold Replicates Enthesis Microenvironment to Modulate Early Cell Responses

open access: yesAdvanced NanoBiomed Research, EarlyView.
A bioinspired triphasic scaffold integrating 3D printed polycaprolactone and electrospun poly(lactic‐co‐glycolic acid) is developed to replicate the organization of the tendon‐to‐bone enthesis. Cyclic mechanical stimulation induces spatially defined cell morphology and lineage‐related gene expression in human mesenchymal stem cells, highlighting the ...
Ginevra Pegollo   +7 more
wiley   +1 more source

Qualitative shape from shading. [PDF]

open access: yesIperception
Norman JF, Todd JT.
europepmc   +1 more source

From Bench to Bulk: Investigating Kinetics, Recyclability, and Scale‐Up of ZIF‐67

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Zeolitic imidazolate framework‐67 (ZIF‐67), a subclass of metal–organic frameworks (MOFs), has garnered considerable attention due to its high surface area, open crystal structure, tunable porosity, and potential applications in gas separation, catalysis, and carbon capture.
Aaush Bhardwaj Singh   +1 more
wiley   +1 more source

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