Results 181 to 190 of about 874,608 (238)
Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications. [PDF]
Christofolini DM +8 more
europepmc +1 more source
ABSTRACT The Nav1.5 channel, a major isoform of voltage‐gated sodium ion channel, is mainly found in ventricular cardiomyocytes, playing a key role in generating essential cardiac action potentials for normal heart rhythms. Mutations in Nav1.5 have been associated with severe heart conditions such as long QT syndrome, Brugada syndrome, cardiac ...
Arkapravo Chattopadhyay +3 more
wiley +1 more source
Inflorescence/floret phenotypes of tweaky spike (tw) barley (Hordeum vulgare) mutants and their respective WT backgrounds. Summary Mutant‐based research is a cornerstone for elucidating gene function in barley (Hordeum vulgare) and other cereals. In this study, we exploited a unique collection of barley tweaky spike (tw) mutants to identify the locus ...
Vėjūnė Pukenytė +10 more
wiley +1 more source
Translating whole‐genome doubling into precision medicine in cancer
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley +1 more source
Genomic medicine in cardiovascular care is progressing from established diagnostic applications toward integrated risk prediction, multiomics, and emerging therapeutic strategies. ABSTRACT Background Genomic cardiology is an emerging field integrating genetic, molecular, imaging, and digital health data to improve cardiovascular disease (CVD ...
Neda Mohsen‐Pour +5 more
wiley +1 more source
Based on the 2021 WHO CNS5 guidelines, this study introduces an integrated high‐risk molecular classification for gliomas and constructs a predictive model by combining multimodal MRI habitat imaging, Transformer‐based WSI pathomics, and clinical information.
Wenju Niu +9 more
wiley +1 more source
B chromosomes put the 'super' in supernumerary. [PDF]
Samuelson KB, Hanlon SL.
europepmc +1 more source
Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22. [PDF]
Hu YA, Cui Y, Fan X, Wu Q, Li W, Wang W.
europepmc +1 more source
Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report. [PDF]
Khalid R, Fadl-Elmula I.
europepmc +1 more source
ABSTRACT Helicobacter pylori infection is characterized by chronic gastric inflammation driven by persistent activation of innate immune signalling pathways. Outer membrane vesicles (OMVs) released by H. pylori are important mediators of host–pathogen interactions. Although several mechanisms of OMV internalization have been described, how specific OMV‐
Mariaignacia Rubilar +6 more
wiley +1 more source

