Results 41 to 50 of about 11,659 (270)

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

open access: yesHuman Mutation, Volume 43, Issue 12, Page 1970-1978, December 2022., 2022
Abstract Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown
Rocio Rius   +15 more
wiley   +1 more source

A note on Pascal's triangle and division by eleven

open access: yesIntermaths, 2022
Divisibility is an old topic that to this day intrigues and fascinates researchers and scholars. Several rules are well-known in particular the divisibility by eleven, since, for example, a palindrome with an even number of digits is divisible by eleven.
Leonardo Ribeiro de Castro Carvalho   +1 more
doaj   +1 more source

Partially Palindromic Compositions [PDF]

open access: yesarXiv, 2022
We generalize recent work of Andrews, Just, and Simay on modular palindromic compositions and anti-palindromic compositions by viewing all compositions partially (modular) palindromic or anti-palindromic. More precisely, we enumerate compositions by the extent to which they are (modular) palindromic or anti-palindromic.
arxiv  

Palindrome: A critical perspective and interview

open access: yesBody, Space & Technology Journal, 2005
None
Jane Frere, Mostafa Yarmahmoudi
doaj   +3 more sources

A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype

open access: yesJournal of Translational Medicine, 2019
Background Genomic disorders present a wide spectrum of unrelated clinical entities that result from genomic rearrangements. Interstitial insertions requiring three points of breakage are rare genomic rearrangement events. The pseudoautosomal region PAR1,
Nuo Si   +4 more
doaj   +1 more source

Amplification‐Free, Sequencing‐Free, Detection of Viral RNAs with Variant Specification by Discrete Nanocounting

open access: yesAdvanced Functional Materials, EarlyView.
Integrating selective RNA shortcut, targeted gene isolation, and micro‐arrayed nanoimaging, the NanoPick‐array platform excels in detecting severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) at just 60 copies µL−1 and accurately differentiating variants at the single‐nucleotide level. It ensures 100% accuracy for samples with cycle threshold (
Zixun Wang   +9 more
wiley   +1 more source

Over two decades of research on the marine RNA virosphere

open access: yesiMeta, Volume 1, Issue 4, December 2022., 2022
Advances in meta‐omics provide a surge of marine RNA virus information. Deep marine virus discovery contributes greatly to the megataxonomy of RNA viruses. Understanding diversity and biogeography helps reveal the significance of marine RNA viruses, including evolutionary trajectories, hierarchical taxonomy, and ecological importance.
Meng‐en Liao   +3 more
wiley   +1 more source

Recent Applications of Mesoporous Silica Nanoparticles in Gene Therapy

open access: yesAdvanced Healthcare Materials, EarlyView.
The review summarizes the synthesis of mesoporous silica nanoparticles (MSNs) with modifiable surface properties, functionalization strategies, mechanism of therapeutic payload release, and current applications in gene therapy, focusing on their capabilities in the targeted delivery of therapeutic nucleic acids, CRISPR‐Cas systems, and other genetic ...
Tamanna Binte Huq   +4 more
wiley   +1 more source

Identification of the regulatory logic controlling Salmonella pathoadaptation by the SsrA-SsrB two-component system. [PDF]

open access: yesPLoS Genetics, 2010
Sequence data from the past decade has laid bare the significance of horizontal gene transfer in creating genetic diversity in the bacterial world. Regulatory evolution, in which non-coding DNA is mutated to create new regulatory nodes, also contributes ...
Ana M Tomljenovic-Berube   +4 more
doaj   +1 more source

Engineering CAR‐T Therapeutics for Enhanced Solid Tumor Targeting

open access: yesAdvanced Materials, EarlyView.
CART cell therapy has proven effective for blood cancers but struggles with solid tumors due to diverse antigens and complex environments. Recent efforts focus on improving CAR design and validation platforms. Advances in protein engineering, machine learning, and organoid systems aim to enhance CAR‐T therapy against solid tumors.
Danqing Zhu   +4 more
wiley   +1 more source

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