Results 211 to 220 of about 164,097 (264)

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. [PDF]

Am J Med Genet A
Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE.   +24 more
europepmc   +1 more source

Nonsense‐Mediated Decay mRNA Quality Control System Is Essential for Root Development and Efficient Root Nodule Symbiosis in Medicago truncatula

Plant, Cell &Environment, EarlyView.
János B. Biró, Csaba Péter, Ágota Domonkos, Zoltán Hegedűs, Lóránt Lakatos, Deepali Rana, Péter Gyula, Dániel Silhavy, Péter Kaló   +8 more
wiley   +1 more source

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, Volume 183, Issue 16, Page 4735-4760, August 2026.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

High frequency of transition to transversion ratio in the stem region of RNA secondary structure of untranslated region of SARS-CoV-2. [PDF]

PeerJ
Dash M, Meher P, Aditya Kumar, Satapathy SS, Namsa ND.   +4 more
europepmc   +1 more source

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants

Clinical Genetics, Volume 110, Issue 2, Page 203-209, August 2026.
We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph, Esben Søndergaard, Sine Knorr, Jane Hagelskjær Knudsen, Søren Rittig, Jane Hvarregaard Christensen   +5 more
wiley   +1 more source

NMR Studies of Genomic RNA in 3' Untranslated Region Unveil Pseudoknot Structure that Initiates Viral RNA Replication in SARS-CoV-2. [PDF]

JACS Au
Ohyama T, Osawa T, Sekine SI, Ishii Y.
europepmc   +1 more source

A Myocyte‐Enriched Long Non‐Coding RNA NRMLncR Enhances Myogenesis in Mouse

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
We identified a novel myocyte‐enriched, Notch‐repressed myogenic lncRNA, NRMLncR, that is induced by myogenic regulatory factors (MRFs) during myogenic progression in mouse. NRMLncR localizes to cytoplasmic and nuclear compartments, associates with the RNA‐binding protein CUGBP Elav‐like family member 1 (CELF1), and is linked to neighboring gene Tbx1 ...
Yufen Li, Yumei Zhou, Qing Ying Li, Justine Arrington, Zhengzheng Hu, Mostafa F. Abdelhai, Yubo Wang, Junxiao Ren, Yung‐Yu Cheng, Mingyi Xie, W. Andy Tao, Shihuan Kuang, Feng Yue   +12 more
wiley   +1 more source

Editor's Note on 'MicroRNA-296 is enriched in cancer cells and downregulates p21WAF1 mRNA expression via interaction with its 3' untranslated region'. [PDF]

Nucleic Acids Res
europepmc   +1 more source

Additional prognostic value of polymorphisms within the 3'-untranslated region of programmed cell death pathway genes in early-stage breast cancer. [PDF]

Front Immunol
Chen H, Chen M, Zeng B, Tang L, Nie Q, Jin X, Guo W, Chen L, Lin Y, Wang C, Fu F.   +10 more
europepmc   +1 more source