Results 161 to 170 of about 141,024 (299)

A Translational Roadmap for Neurological Nonsense Mutation Disorders. [PDF]

Int J Mol Sci
Li J, Zhu Z, Xu S.
europepmc   +1 more source

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

Acta Ophthalmologica, EarlyView.
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

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. [PDF]

PLoS One
Mäkeläinen S, Ekman S, Hytönen MK, Lohi H, Kyöstilä K, Simon T, Andersson G, Hedhammar Å, Hansson K, Bergström TF.   +9 more
europepmc   +1 more source

Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants

British Journal of Haematology, EarlyView.
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George, Elisabeth Rolf, Monika Domeradzka, Sara Ribeiro, Brittany Mills, April Hallett, Suzanne Macmahon, Paula Proszek, Ridwan Shaikh, Lina Yuan, Michael Hubank, Mikel Valganon Petrizan, Terri P. McVeigh, Jamshid S. Khorashad   +13 more
wiley   +1 more source

In‐depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis

British Journal of Haematology, EarlyView.
Summary Hereditary spherocytosis (HS) is a hereditary haemolytic anaemia, caused by pathogenic variants in genes encoding red blood cell membrane proteins. Osmotic gradient ektacytometry evaluates red cell deformability and hydration and is increasingly used in the diagnosis of HS.
Jonathan R. A. de Wilde, Geoffrey Z. L. Kuppens, Maryse E. Boesveld, Annelies J. van Vuren, Wouter W. van Solinge, Esmé Waanders, Eduard J. van Beers, Minke A. E. Rab, Marije Bartels, Richard van Wijk   +9 more
wiley   +1 more source

Ataluren for the treatment of people living with nonsense mutation Duchenne muscular dystrophy: a plain language summary of Study 041. [PDF]

J Comp Eff Res
Wu S, Vlodavets D, de Queiroz Campos Araujo AP, Castle J.   +3 more
europepmc   +1 more source

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK. [PDF]

J Clin Immunol, 2023
Keller B, Kfir-Erenfeld S, Matusewicz P, Hartl F, Lev A, Lee YN, Simon AJ, Stauber T, Elpeleg O, Somech R, Stepensky P, Minguet S, Schraven B, Warnatz K.   +13 more
europepmc   +1 more source

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report

Pediatric Investigation, EarlyView.
Haoxuan Li, Yufei Xie, Qun Wu, Xiaomin Duan, Fangyun Wang, Xin Zhang, Jing Wang   +6 more
wiley   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source

A nonsense mutation in the Mocos gene induces xanthinuria, obstructive nephropathy, and anemia in rats. [PDF]

Exp Anim
Urasaki M, Nagasaka K, Kido M, Hayashi K, Watanabe A, Hattori K, Sekiguchi T, Kuwamura M, Tanaka M, Mashimo T, Kuramoto T.   +10 more
europepmc   +1 more source