Results 181 to 190 of about 747,509 (280)

Identity, functional consequences, and context effects of amino acids inserted during suppression of CFTR nonsense mutations. [PDF]

J Cyst Fibros
Thrasher K, Chen J, Fu L, Benson D, Ekstrom J, Hargett AA, Renfrow MB, Rowe SM, Keeling KM, Bedwell DM.   +9 more
europepmc   +1 more source

Global Real‐World Outcomes of Olaparib in Metastatic Castration‐Resistant Prostate Cancer Patients With Homologous Recombination Repair Alterations

International Journal of Cancer, EarlyView.
ABSTRACT Evidence to guide the treatment for patients with metastatic castration‐resistant prostate cancer (mCRPC) and Homologous Recombination Repair (HRR) gene alterations outside of clinical trials remains limited. This was an observational, cohort study, including mCRPC patients with tumor harboring HRR alterations, progressed on a prior androgen ...
Lorena Incorvaia, Daniele Santini, Marc R. Matrana, Marco Maruzzo, Ray Manneh Kopp, Lorenzo Antonuzzo, Sergio Bracarda, Deniz Tural, Giuseppe Procopio, Maria T. Bourlon, Orazio Caffo, Martin Ignacio Zapata Laguado, Massimo Di Maio, Brigida Anna Maiorano, Vincenza Conteduca, Sabrina Rossetti, Helga Lipari, Thomas Büttner, Mimma Rizzo, Yüksel Ürün, Carlo Messina, Fernando Sabino Marques Monteiro, Andrey Soares, Mattia Puglisi, Alice Principi, Eleonora Lai, Giulia Mammone, Marco Stellato, Ilaria Depetris, Tancredi Didier Bazan Russo, Isadora Yasbick Spricido, Camila Bobato Lara Gismondi, Francesco Massari, Nicola Pavan, Matteo Santoni, Tarek Taha   +35 more
wiley   +1 more source

RFFL-mediated protein quality control limits functional rescue of TRID-CFTR modulator combination therapy for cystic fibrosis nonsense mutations. [PDF]

Cell Mol Life Sci
Tateishi H, Doi Y, Kamada Y, Okiyoneda T.   +3 more
europepmc   +1 more source

Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review. [PDF]

Front Pediatr, 2022
Li X, Wei Y, Wang M, Jia L, Shi Z, Yang X, Ju T, Kuang Q, Xia Z, Gao C.   +9 more
europepmc   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations. [PDF]

Nucleic Acids Res
Specht C, Tapia A, Penrod S, Soriano GA, Awawdeh A, Alshawi SA, White CA, Beaudoin JD, Doud EH, Vargas-Rodriguez O, Huang Y, Tharp JM.   +11 more
europepmc   +1 more source

Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene. [PDF]

Int J Mol Sci, 2021
Venturini A, Borrelli A, Musante I, Scudieri P, Capurro V, Renda M, Pedemonte N, Galietta LJV.   +7 more
europepmc   +1 more source

Translating Riedl: The Circulation and Operationalisation of Evolutionary Ideas

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Rupert Riedl's Order in Living Organisms proposed a systems theory of evolution decades before the concepts it pioneered—homology, burden, the imitative epigenotype—reached the agenda of evolutionary biology. This paper reconstructs the lineages that operationalized his insights across several fields and explores the internal and external reasons for ...
Laura Nuño de la Rosa
wiley   +1 more source

ACE-tRNAs are a platform technology for suppressing nonsense mutations that cause cystic fibrosis. [PDF]

Nucleic Acids Res
Ko W, Porter JJ, Spelier S, Sorensen EG, Bhatt P, Gabell JT, van der Windt I, Couch T, Coote K, Mense M, Beekman JM, Lueck JD.   +11 more
europepmc   +1 more source

NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough. [PDF]

iScience, 2022
Omachi K, Kai H, Roberge M, Miner JH.
europepmc   +1 more source