Results 181 to 190 of about 593,183 (294)

Frequent occurrence and predicted functions of tRNAs with 4-base-pair anticodon stems in bacteria: extended superwobble hypothesis. [PDF]

open access: yesNucleic Acids Res
Fakih F   +15 more
europepmc   +1 more source

Enhanced Intracellular Stability and Translation Efficiency of mRNA Drugs by a 2‐arm mRNA Platform

open access: yesAdvanced Science, EarlyView.
We constructed a 2‐arm mRNA, characterized by a unique topology formed through the dimerization of two mRNA 3’ tails. The 2‐arm mRNA improves 3’ tail stability and resistance to nuclease degradation, resulting in an intracellular half‐life of up to 65 h. This method substantially enhances the translation capacity of mRNA drugs.
Xucong Teng   +5 more
wiley   +1 more source

Secreted Nonstructural Protein 3 is a Pathogenic Determinant of Orbivirus

open access: yesAdvanced Science, EarlyView.
This study uncovers a conserved PIP2‐dependent secretory pathway of orbivirus NS3 that induces vascular leakage. Pharmacological disruption of PIP2‐NS3 interaction significantly reduces viral pathogenicity and provides protective efficacy in murine models, establishing PIP2‐mediated NS3 secretion as both a key virulence determinant and a promising ...
Junyong Guan   +11 more
wiley   +1 more source

Machine Learning‐Enhanced Random Matrix Theory Design for Human Immunodeficiency Virus Vaccine Development

open access: yesAdvanced Intelligent Discovery, EarlyView.
This study integrates random matrix theory (RMT) and principal component analysis (PCA) to improve the identification of correlated regions in HIV protein sequences for vaccine design. PCA validation enhances the reliability of RMT‐derived correlations, particularly in small‐sample, high‐dimensional datasets, enabling more accurate detection of ...
Mariyam Siddiqah   +3 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly   +3 more
wiley   +1 more source

Codon [PDF]

open access: yes, 2018
openaire   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro   +10 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

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