Results 261 to 270 of about 222,325 (351)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Comprehensive analysis of Saccharomyces cerevisiae intron structures in vivo. [PDF]

Nat Struct Mol Biol
Rangan R, Huang R, Hunter O, Pham P, Ares M, Das R.   +5 more
europepmc   +1 more source

A pilot study on DNA methylation changes for non‐invasive molecular diagnostics in heart failure

ESC Heart Failure, EarlyView.
A liquid biopsy approach integrating the high‐resolution RRBS DNA methylation platform and network‐oriented strategy identified the hypomethylation of CPTA1, CKAP4, SPTB, SYT6, EIF2S2, and RAB11FIP1 genes as useful biomarkers in distinguishing between ischaemic and non‐ischaemic HF aetiologies.
Giuditta Benincasa, Francesco Cacciatore, Mark E. Pepin, Francesco Curcio, Rosaria Chiappetti, Adam R. Wende, Enrico Coscioni, Claudio Napoli   +7 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

M6A-dependent RNA condensation underlies FUS autoregulation and can be harnessed for ALS therapy development. [PDF]

Sci Adv
Huang WP, Kumar V, Yap K, An H, John SJ, Hodgson RE, Avila AS, Day E, Ellis BCS, Chung TH, Lord J, Müller-McNicoll M, Makeyev EV, Shelkovnikova TA.   +13 more
europepmc   +1 more source

Epigenotoxicity: Decoding the epigenetic imprints of genotoxic agents and their implications for regulatory genetic toxicology

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Regulatory genetic toxicology focuses on DNA damage and subsequent gene mutations. However, genotoxic agents can also affect epigenetic marks, and incorporation of epigenetic data into the regulatory framework may thus enhance the accuracy of risk assessment.
Roger Godschalk, Christopher Faulk, Jessica LaRocca, Jan van Benthem, Francesco Marchetti   +4 more
wiley   +1 more source

RNA <i>trans</i>-splicing to rescue β-catenin: A novel approach for treating CTNNB1-Haploinsufficiency disorder. [PDF]

Mol Ther Nucleic Acids
Maruna M, Sušjan-Leite P, Meško M, Miroševič Š, Jerala R.   +4 more
europepmc   +1 more source

Inverse splicing of a group II intron.

, 1993
Kevin A. Jarrell
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Complete mitochondrial genome of <i>Mycena pura</i> (Mycenaceae, Agaricales). [PDF]

Mitochondrial DNA B Resour
Na JL, Zhang YJ, Zhang S.
europepmc   +1 more source