Results 161 to 170 of about 62,957 (275)

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +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

Refusing to Listen: Receptive Audiences and the Political Authority of Speech in Hobbes, Locke, and Mill

Constellations, EarlyView.
Thomas Henry Owings
wiley   +1 more source

Envisioning the Future of Work: From Ideas to Reforms

British Journal of Industrial Relations, EarlyView.
ABSTRACT Two different theoretical perspectives concerning technology and the future of work are examined. One is linked to mainstream economics, whereas the other is associated with critical (‘post‐work’) discourse. Ideas about work—its nature and impacts on well‐being—matter in both perspectives.
David A. Spencer
wiley   +1 more source

Collaboration of tRNA modifications and elongation factor eEF1A in decoding and nonsense suppression. [PDF]

Sci Rep, 2018
Klassen R, Schaffrath R.
europepmc   +1 more source

Regressing to Nature: Culture Industry and Fascism in Times of Ecological Crisis

Constellations, EarlyView.
Heiko Stubenrauch
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

Mutually Orthogonal Nonsense-Suppression Systems and Conjugation Chemistries for Precise Protein Labeling at up to Three Distinct Sites. [PDF]

J Am Chem Soc, 2019
Italia JS, Addy PS, Erickson SB, Peeler JC, Weerapana E, Chatterjee A.   +5 more
europepmc   +1 more source

Relationship Between PTBP1 and Pancreatic Cancer Based on microRNA and Behavior During TYMS‐Mediated Carcinogenesis

Cancer Science, EarlyView.
Corresponding Author and colleagues identify a pancreas‐enriched microRNA, miR‐216b‐5p, that suppresses PTBP1 and its downstream effector TYMS. Their findings reveal a novel miR‐216b‐5p/PTBP1/TYMS regulatory axis driving pancreatic cancer progression and establish PTBP1 as a central molecular regulator of tumor biology beyond its metabolic role ...
Shigenori Suzuki, Hiroaki Hase, Yosuke Inomata, Jun Arima, Kentaro Jingushi, Atsushi Tomioka, Nao Kawaguchi, Hiroki Hamamoto, Ryo Tanaka, Yoshiro Imai, Mitsuhiro Asakuma, Tomohito Tanaka, Kazutake Tsujikawa, Kohei Taniguchi, Sang‐Woong Lee   +14 more
wiley   +1 more source

High-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs. [PDF]

Nucleic Acids Res
Beharry A, Ward C, Moore H, Hoffman KS, Chan PP, Lowe TM, O'Donoghue P.   +6 more
europepmc   +1 more source