Results 221 to 230 of about 1,076,866 (305)

Stabilizing Functional Nucleic Acids for Real‐Sample Diagnostics

open access: yesAngewandte Chemie, EarlyView.
Functional nucleic acids enable programmable real‐sample diagnostics, but often lose function in complex biological matrices. This review highlights four stabilization levers—chemical, topological, architectural, and microenvironment/interface engineering—that preserve aptamer and DNAzyme performance in saliva, serum, urine, and stool, reframing ...
Soyeon Lee   +4 more
wiley   +2 more sources

Dataset of 16S rRNA sequencing of retrospective cohorts

open access: yes
16S rRNA gene sequencing data from patients with varying degrees of COVID-19 will be completed for a maximum number of 1,500 patients. The publication of the deliverable for personal individual data will follow the relevant laws and regulation and notably the GDPR.
openaire   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai   +5 more
wiley   +1 more source

An IscS Persulfide Donates the Sulfur for Ribosomal Protein uL16 Thioamidation

open access: yesAngewandte Chemie, EarlyView.
YcaO‐catalyzed thioamidation of the ribosomal subunit protein uL16 is widespread in Pseudomonadota bacteria. We identify the iron–sulfur cluster cysteine desulfurase IscS as the sulfur donor via an IscS persulfide and observe direct IscS–uL16 interactions.
Yanqing Xue   +2 more
wiley   +2 more sources

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy   +21 more
wiley   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

open access: yesAnnals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca   +24 more
wiley   +1 more source

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