Results 191 to 200 of about 144,700 (293)

Pervasive enhanced transcription in inflammatory breast cancer tumors and PBMCs impacts RNA splicing and intronic RNAs in plasma. [PDF]

open access: yesSci Adv
Wylie D   +8 more
europepmc   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu   +7 more
wiley   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

open access: yesPediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou   +3 more
wiley   +1 more source

RNA‐binding protein RBMS1: A new target for cancer diagnosis and treatment

open access: yesPrecision Medical Sciences, EarlyView.
This schematic illustrates the diverse regulatory roles of RNA‐binding motif single‐stranded interacting protein 1 (RBMS1) across multiple human cancers. In breast cancer, RBMS1 stabilizes B4GALT1 mRNA to promote PD‐L1 glycosylation, modulating tumor immune escape and immunotherapy efficacy.
Xingda Run   +7 more
wiley   +1 more source

Sensitivity of Irish Pyrenopeziza brassicae populations to methyl benzimidazole carbamate (MBC), quinone outside inhibitor (QoI) and succinate dehydrogenase inhibitor (SDHI) fungicides

open access: yesPest Management Science, EarlyView.
For three collections of Irish Pyrenopeziza brassicae populations fungicide sensitivity status to methyl benzimidazole carbamate (MBC), quinone outside inhibitor (QoI) and succinate dehydrogenase inhibitor (SDHI) fungicides was determined using sensitivity screening in vitro. Molecular mechanisms of insensitivity have been identified for MBC and QoI in
Diana E Bucur   +3 more
wiley   +1 more source

Decreased DMI sensitivity of Plenodomus biglobosus (phoma of oilseed rape) associated with CYP51 substitution G476S

open access: yesPest Management Science, EarlyView.
Here, we report for the first time a target site mutation in the CYP51 gene of the oilseed rape phoma stem canker fungus Plenodomus biglobosus (Leptosphaeria biglobosa) that is associated with decreased sensitivity to sterol demethylation inhibitor fungicides.
Kevin M King   +4 more
wiley   +1 more source

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