Results 221 to 230 of about 416,899 (328)

Intron mis-splicing: no alternative? [PDF]

, 2008
Scott William Roy, Manuel Irimia
openalex   +1 more source

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

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype. [PDF]

Invest Ophthalmol Vis Sci
Reis LM, Bellingham J, Motta FL, Jurkute N, Raskin S, Ramos F, Mahroo OA, Moosajee M, Arno G, Semina EV.   +9 more
europepmc   +1 more source

Characterisation of a Group I Intron in the 18S rDNA of Thecamoeba (Amoebozoa; Discosea)

, 2023
Daniele Corsaro
openalex   +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

Dynamic assembly of a large multidomain ribozyme visualized by cryo-electron microscopy. [PDF]

Nat Commun
Jadhav S, Maiorca M, Manigrasso J, Saha S, Rakitch A, Muscat S, Mulvaney T, De Vivo M, Topf M, Marcia M.   +9 more
europepmc   +1 more source

THE EFFECT OF MONOCOT INTRONS ON TRANSGENE EXPRESSION IN Nicotiana GENUS PLANTS [PDF]

, 2018
I. O. Nitovska, M. Yu. Vasylenko, Б. В. Моргун   +2 more
openalex   +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

Corrigendum: Novel Genomic and Evolutionary Perspective of Cyanobacterial tRNAs

Frontiers in Genetics, 2020
Tapan K. Mohanta, Asad S. Syed, Fuad Ameen, Hanhong Bae   +3 more
doaj   +1 more source

UCP3 gene variants and obesity in a Pakistani sample population. [PDF]

Sci Rep
Bhatti AA, Rana S, Khalid M, Nawaz H, Irfan M.   +4 more
europepmc   +1 more source