Results 291 to 300 of about 138,057 (371)

Comparative Meta-Analysis of Long-Read and Short-Read Sequencing for Metagenomic Profiling of the Lower Respiratory Tract Infections. [PDF]

Microorganisms
Lorenzin G, Carlin M.
europepmc   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

pH-Responsive peptide nanopores are stabilized by lipid and water-mediated hydrogen bonding networks.

Nanoscale
Bondar AN, Lešnik S, Hristova K, Wimley WC.   +3 more
europepmc   +1 more source

Nanopore Creation in Graphene at the Nanoscale for Water Desalination [PDF]

Sidi Abdelmajid Ait Abdelkader, Ismail Benabdallah, Mohammed Amlieh, A. El Fatimy   +3 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Nanopore-based sensing for biomarker detection: from fundamental principles to translational diagnostics. [PDF]

J Nanobiotechnology
Shrikrishna NS, Gandhi S.
europepmc   +1 more source

Nanopore sequencing provides snapshots of the genetic variation within salmonid alphavirus-3 (SAV3) during an ongoing infection in Atlantic salmon (Salmo salar) and brown trout (Salmo trutta) [PDF]

HyeongJin Roh, Kai Ove Skaftnesmo, Dhamotharan Kannimuthu, Abdullah S. Madhun, Sonal Patel, Bjørn Kvamme, H. Craig Morton, Søren Grove   +7 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

Primitive Ligands Drive 1D CsPbI3 Nanostructures with Strongly Polarized Photoluminescence

Angewandte Chemie, EarlyView.
This work illustration highlights I− concentration drives the structural evolution of CsPbI3 from cubic to orthorhombic phase, accompanied by octahedral distortion. In addition, increasing I− transforms nanorods into ginkgo‐leaf‐like assemblies, including a 659–683 nm PL redshift due to bandgap narrowing and strain effects.
Juan Xie, Kang Feng, Chuo Yin, Jie Zhang, Stefanos Mourdikoudis, Yanli Du, Xu Chen, Yang Liu, Hanjun Li, Shengshi Fan, Longhui Zeng, Lakshminarayana Polavarapu, Guangchao Zheng   +12 more
wiley   +2 more sources

De Novo Design of α-helical Peptide Nanopores for Single-Molecule Detection Using Helix Packing Motifs. [PDF]

ACS Nano
Peng Z, Usami M, Nakada A, Sekiya Y, Fujita S, Mijiddorj B, Kawamura I, Kawano R.   +7 more
europepmc   +1 more source