Results 271 to 280 of about 616,369 (340)

Mitochondrial genome of Acheilognathus striatus characterisation and phylogenetic analysis. [PDF]

Mitochondrial DNA B Resour
Yang R, Yu J, Tang Y, Zhou C.
europepmc   +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

Engineering Fluoroacetate Dehalogenase by Growth‐Based Selections on Non‐Natural Organofluorides

Angewandte Chemie, EarlyView.
We present a high‐throughput selection system to engineer fluoroacetate dehalogenases (FAcDs). By challenging E. coli populations that produce diverse FAcD libraries to grow on non‐natural organofluorides as their sole carbon source, we isolated a panel of FAcD variants with improved activity and altered substrate specificity.
Suzanne C. Jansen, Pauline van Beers, Clemens Mayer   +2 more
wiley   +2 more sources

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Impact of GC content on de novo gene birth. [PDF]

Nat Commun
Roginski P, Papadopoulos C, Herman S, Baumann A, Grislain A, Lopes A.   +5 more
europepmc   +1 more source

The Complete Chloroplast Genome of <i>Curcuma bakerii</i>, an Endemic Medicinal Plant of Bangladesh: Insights into Genome Structure, Comparative Genomics, and Phylogenetic Relationships. [PDF]

Genes (Basel)
Islam MR, Alzahrani DA, Albokhari EJ, Alawfi MS, Alsubhi AI.   +4 more
europepmc   +1 more source

Characterization of the Mitochondrial Genome of <i>Cavariella salicicola</i>: Insight into the Codon Usage Bias and Phylogenetic Implications in Aphidinae. [PDF]

Genes (Basel)
Jing TX, Zhang YJ, Li PX, Wang Q, Yang J, Su HH, Zhang S.   +6 more
europepmc   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

Codon Usage Bias Analysis of Citrus Leaf Blotch Virus. [PDF]

Viruses
Ren X, Xu L, Yan Y, Wang Y, Huang A.
europepmc   +1 more source

Conditional deep learning model reveals translation elongation determinants during amino acid deprivation. [PDF]

Commun Biol
Nallapareddy MV, Craighero F, Worpenberg L, Naef F, Gobet C, Vandergheynst P.   +5 more
europepmc   +1 more source