Results 141 to 150 of about 386,039 (382)

Growth Charts for Children With Beckwith–Wiedemann Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas   +11 more
wiley   +1 more source

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene

open access: yesThe Turkish Journal of Pediatrics, 2015
Cyclin-dependent kinase-like 5 gene-related epileptic encephalopathy is gradually becoming better known in child neurology practice. The related gene mutations cause early infantile epileptic encephalopathy characterized by intractable epilepsy ...
Sarenur Gökben   +4 more
doaj  

Integration of Genetic Algorithms and Deep Learning for the Generation and Bioactivity Prediction of Novel Tyrosine Kinase Inhibitors [PDF]

open access: yesarXiv
The intersection of artificial intelligence and bioinformatics has enabled significant advancements in drug discovery, particularly through the application of machine learning models. In this study, we present a combined approach using genetic algorithms and deep learning models to address two critical aspects of drug discovery: the generation of novel
arxiv  

Approaches to repurposing reverse transcriptase antivirals in cancer

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
This review highlights the role of reverse transcriptase (RT) inhibition in cellular regulation associated with non‐terminal repeat retrotransposons and endogenous retroviruses. Based on their pleiotropic characteristics, RT inhibitors (RTIs) are discussed as potential anticancer agents.
Richard Head   +2 more
wiley   +1 more source

Mitochondria and Endoplasmic Reticulum Contact Site as a Regulator of Proteostatic Stress Responses in Neurodegenerative Diseases

open access: yesBioEssays, EarlyView.
Recent findings indicate that mitochondria‐associated membranes (MAMs), where the endoplasmic reticulum directly contacts the mitochondria, are a novel microdomain essential for cellular homeostasis, including proteostasis. We summarize the disruption of protein homeostasis and MAM alteration in neurodegenerative diseases, then discuss challenges and ...
Seiji Watanabe, Koji Yamanaka
wiley   +1 more source

Compact Origins and Where to Find Them: ORC's Guide to Genome‐Wide Licensing

open access: yesBioEssays, EarlyView.
Origin licensing is a key requirement for any eukaryotic cell to initiate DNA replication in S‐phase. Here, we review the most recent findings in the orchestrated action of the origin recognition complex (ORC) to sequentially load two MCM2‐7 helicases onto DNA with a focus on origin architecture and sequencing‐based methods.
Christian Speck   +1 more
wiley   +1 more source

Dynamic protein interactions probed by NMR spectroscopy

open access: yesBulletin of the Korean Chemical Society, EarlyView.
Abstract Dynamic protein–protein interactions are essential for diverse cellular processes but often evade structural characterization due to their transient, heterogeneous, and disordered nature. This review focuses on how nuclear magnetic resonance (NMR) spectroscopy can provide detailed, residue‐level insights into these complex interactions.
Jaeseok Lee, Jung Ho Lee
wiley   +1 more source

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