Results 141 to 150 of about 1,412,344 (374)
Targeted therapies to improve CFTR function in cystic fibrosis [PDF]
, 2015 Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator ...
Brodlie, M +3 more
core +2 more sources
A Subcircuit in the Suprachiasmatic Nucleus Generates Wakefulness
Advanced Science, EarlyView.This study identifies a sub‐circuit within the circadian pacemaker suprachiasmatic nucleus (SCN) that promotes arousal. This sub‐circuit is labeled by the clock output molecule mWAKE, which suppresses its excitability in a time‐dependent manner. mWAKE‐expressing cells in the SCN (SCNmWAKE cells) project to the subparaventricular zone (SPZ) to mediate ...
Qiang Liu +6 more
wiley +1 more source
The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy
Nature Genetics, 2019 Premature termination codons (PTCs) can result in the production of truncated proteins or the degradation of messenger RNAs by nonsense-mediated mRNA decay (NMD).
Rik G. H. Lindeboom +3 more
semanticscholar +1 more source
A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population [PDF]
, 2003 BACKGROUND: In recent years, several groups have reported dominant inheritance of obesity conferred by missense, nonsense and frameshift mutations in the melanocortin 4 receptor gene (MC4R).
Corbalan, M. (M.S.) +5 more
core +1 more source
Advanced Science, EarlyView.Base editing enables precise nucleotide substitutions but limited by bystander editing. This study engineers plant base editors by fusing optimized TadA variants with PAM‐flexible SpRY nickase, enabling A‐to‐G, C‐to‐T, and dual‐base conversions in a highly condensed window (≤3 nucleotides). Additionally, TadDBE (TadA Dual‐Base Editor)‐mediated directed
Kangli Sun +14 more
wiley +1 more source
Advanced Science, EarlyView.A next‐generation cytosine base editor (zTadCBE) and other variants are developed by combining the high‐efficiency (TadCBEa) and low‐indel (TadCBEMax) architectures, followed by the introduction of zebrafish‐optimized mutations (V82S, Q154R) in the TadA domain.
Wei Qin +7 more
wiley +1 more source
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]
, 2016 Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe +67 more
core +4 more sources
Cellpose+, a Morphological Analysis Tool for Feature Extraction of Stained Cell Images
Advanced Intelligent Discovery, EarlyView.We introduce Cellpose plus, a morphological and geometrical analysis tool for feature extraction of stained cell images built over Cellpose, a state‐of‐the‐art cell segmentation framework. We also introduce a dataset of DAPI and FITC stained cells to which our new method is applied.
Israel A. Huaman +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2017 Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy.
Osman Yeşilbaş +5 more
doaj +1 more source