Results 241 to 250 of about 516,711 (334)

Comparative analysis of full-length 16s ribosomal RNA gene sequencing in human oropharyngeal swabs using primer sets with different degrees of degeneracy. [PDF]

open access: yesFront Cell Infect Microbiol
Waechter C   +13 more
europepmc   +1 more source

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome

open access: yesAmerican Journal of Hematology, EarlyView.
Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello   +29 more
wiley   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

Ribosomal Synthesis of Topologically Defined Thioisoindole‐Bridged Bicyclic Peptides

open access: yesAngewandte Chemie, EarlyView.
A flexible in vitro translation (FIT) system‐based strategy for ribosomal synthesis of thioisoindole‐bridged bicyclic (TiB) peptides is developed. The flexizyme substrate Ac‐Ala(NtBA)Sc‐CME is efficiently incorporated into FIT to generate ribosomal peptides bearing N‐terminal Ac‐Ala(NtBA)Sc as the cyclization handle, which after mild deprotection ...
Yue Zhang   +3 more
wiley   +2 more sources

Insights into organelle forming RNAs: Diversity, functions and future perspectives

open access: yesAnimal Models and Experimental Medicine, EarlyView.
RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley   +1 more source

Translation‐Promoting Effects of RNA Template Overhangs in the Absence of Ribosomes

open access: yesAngewandte Chemie, EarlyView.
Ribosome‐free translation of an RNA sequence into a peptide sequence can be controlled by the folding of the template strand. Overhang sequences forming a triplex structure with the templating region and the peptidoyl RNA in pH‐dependent manner increase yields up to 40‐fold through entropic effects and mixed anhydride formation, allowing for controlled,
Nikolaos Giannakopoulos   +2 more
wiley   +2 more sources

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

open access: yesAnnals 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   +16 more
wiley   +1 more source

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