Results 131 to 140 of about 37,057 (264)

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

DeepSimulator1.5: a more powerful, quicker and lighter simulator for Nanopore sequencing [PDF]

, 2020
Yu Li, Sheng Wang, Chongwei Bi, Zhaowen Qiu, Mo Li, Xin Gao   +5 more
openalex   +1 more source

A novel carcinogenic mouse model by site‐directed insertion of tandem human HRAS large DNA fragment into 15E1 site

Animal Models and Experimental Medicine, EarlyView.
The NF‐hHRAS mouse model was generated through Chr15 E1 locus‐targeted integration of a 21 kb multicopy HRAS gene cluster. The NF‐hHRAS model demostrated tissue‐specific expression of human HRAS across multiple organs and low spontaneous tumorigenesis.
Susu Liu, Yanwei Yang, Guitao Huo, Hao Yang Zhao, Chen Ling, YuYa Wang, Shijie Zhai, Xiaowei Sun, Wenda Gu, Yuan Cao, Wei Gong, Sanlong Wang, Changfa Fan   +12 more
wiley   +1 more source

Duesselpore™: a full-stack local web server for rapid and simple analysis of Oxford Nanopore Sequencing data [PDF]

, 2021
Christian Vogeley, Thach Ngoc Nguyen, Selina Woeste, Jean Krutmann, Thomas Haarmann‐Stemmann, Andrea Rossi   +5 more
openalex   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Nanopore sequencing of intact aminoacylated tRNAs. [PDF]

Nat Commun
White LK, Radakovic A, Sajek MP, Dobson K, Riemondy KA, Del Pozo S, Szostak JW, Hesselberth JR.   +7 more
europepmc   +1 more source

Emergence of Staphylococcus aureus Resistance to Antimicrobial Peptides Nisin, NZ2114 and Bacitracin Involves Multiple Phenotypic Changes

Animal Research and One Health, EarlyView.
The AMP‐induced mutant Staphylococcus aureus strain nzR showed increased resistance, five gene mutations, and decreased surface anion levels. AMPs affect the NDH‐2 protein encoded by ndh gene inhibiting the growth of S. aureus. The deletion of the ndh gene promotes the development of AMPs resistance.
Lingyu Xiao, Xingyuan Ma, Ping Tian, Lianbin Li, Zafir Muhammad, Xiaokun Wang, Xuemei Xue, Jinhe Xiao, Liangjun Zheng, F. A. El‐Gohary, Xin Zhao, Junning Pu, Huping Xue   +12 more
wiley   +1 more source

Correlating the Sodium Storage Mechanism and Enhancing the Initial Coulombic Efficiency of Biomass‐Derived Hard Carbon in Sodium‐Ion Batteries

Batteries &Supercaps, EarlyView.
The “Citrus limon” derived Si‐hard carbon composites (Si/HC‐X) are prepared for sodium‐ion battery anode. A different synthesis strategy was employed to increase the initial Coulombic efficiency. The presence of Si increases the plateau capacity. The galvanostatic intermittent titration technique, ex situ XRD, and Raman study confirms Na+ stores on ...
Rajib Samanta, Suryakanta Senapati, Maripi Kala, Sudip Barman   +3 more
wiley   +1 more source

Automated environmental metagenomics using Oxford nanopore sequencing. [PDF]

BMC Genomics
Child HT, Wierzbicki L, Joslin GR, Roper K, Haxhiraj Q, Tennant RK.   +5 more
europepmc   +1 more source

A chromosome-level genome assembly of Termitomyces fuliginosus using Oxford Nanopore and Hi-C sequencing

Weiying Chen, Yuling Qin, Tao Zhang, Jian Zou, Jun Yang, Zhenyong Chen   +5 more
openalex   +1 more source