Results 81 to 90 of about 444,809 (263)
, 2019 Chin-Chou Huang,1–5 Min-Ji Charng2,3 1Department of Medical Education, Taipei Veterans General Hospital, Taipei, Taiwan; 2Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan; 3Faculty of Medicine, School
Huang CC, Charng MJ
core
, 2013 In A) the frequency of individuals homozygous (TT) and hemizygous (TW) for the Phase-1 EE docking construct are compared to homozygous wild-type (WW); in B) the frequency of homozygotes (TT) and heterozygotes (TW) for the Phase-2 EVida3 construct are ...
Paul Eggleston (232157) +4 more
core +1 more source
Advanced Science, EarlyView.This study uncovers an unusual RNAi pathway in the rhizarian pathogen Plasmodiophora brassicae. In the absence of Dicer, a Drosha‐like RNase III protein supports the biogenesis of predominant 21‐nt small RNAs, and two Argonaute proteins mediate small RNA‐guided silencing.
Xiong Zhang +13 more
wiley +1 more source
Frontiers in Cardiovascular MedicineBackgroundFamilial hypercholesterolemia (FH) is a common autosomal codominant genetic disorder, with heterozygous FH (HeFH) affecting approximately 1 in 310 individuals.
Lukáš Zlatohlávek +5 more
doaj +1 more source
Advanced Science, EarlyView.NSD2 coordinates the neurogenic‐to‐gliogenic transition in the developing neocortex through H3K36me2‐dependent activation of EGFR–ERK signaling. Loss of NSD2 disrupts astroglial and oligodendroglial development, whereas ERK activation rescues gliogenic defects in vitro and in vivo.
Hanxue Chen +7 more
wiley +1 more source
DNA copy number analysis of representative amplicons and homozygous deletions.
, 2012 Clones were ordered by their position from pter (left) to qter (right). The log2 ratios of every clone in these specific cases were plotted as broken line graphs with different color.
Ho Coral (170154) +9 more
core +1 more source
Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia
Advanced Science, EarlyView.Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li +8 more
wiley +1 more source
Advanced Science, EarlyView.We developed UCtracker, a urine DNA methylation–based deep learning model, for noninvasive diagnosis and postoperative surveillance of urothelial carcinoma. UCtracker demonstrates high diagnostic accuracy, robustness at ultralow sequencing depth, early recurrence detection, and dynamic risk‐stratified monitoring of molecular residual disease ...
Shengwei Xiong +19 more
wiley +1 more source
Treatment of children with homozygous familial hypercholesterolaemia
, 2018 Treatment of children with homozygous familial ...
Željko Reiner, Reiner, Željko
core +1 more source
Advanced Science, EarlyView.This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo +17 more
wiley +1 more source