Results 91 to 100 of about 806,334 (155)

A) ASO activity for tetracycline-inducible SOD-1 minigene.

, 2014
Exons 4 and 5 and a truncated intron 4 were cloned into the vector pcDNA4/TO allowing for tetracycline regulated expression of the minigene and zeocin selection of stable cell lines. SOD/TO cells were transfected with ASOs.
Josh Nichols (605767), Walt F. Lima (449545), Timothy A. Vickers (605766), Cheryl Li (605768), Stanley T. Crooke (449546)   +4 more
core   +1 more source

Antibiotic Assay - a tutorial

, 2010
A tutorial on the assay of antibiotics. Significant background information on the action and use of antibiotics is provided, followed by a walk-through of how to plot graphs, calculate antibiotic concentrations, and analyse resulting data.
Dr John Heritage and Dr Sue Bickerdike, University of Leeds
core  

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Elena Bueno-Martínez, Eladio A. Velasco-Sampedro, Fortuno, C, Caldes, Sonsoles, Bueno-Martínez, Elena, Cristina Fortuno, Sanoguera-Miralles, L, James, Paul, Lara Sanoguera-Miralles, Bueno-Martínez, E, Hoya, Miguel de la, Sonsoles Caldes, Canson, D., Miguel de la Hoya, Spurdle, Amanda B., Velasco-Sampedro, EA, Llinares-Burguet, Inés, James, PA, Spurdle, AB, Inés Llinares-Burguet, Fortuno, C., Velasco, Eladio, Sanoguera-Miralles, Lara, Daffodil M. Canson, de la Hoya, M, Amanda B. Spurdle, Paul A. James, Llinares-Burguet, I, Canson, DM, Caldes, S   +29 more
core   +1 more source

Genotoxicity testing of surface drinking water from three reservoirs in Sardinia (Italy) subjected to chlorination/chloramination

, 2017
INTRODUCTION: Sardinia (Italy) is the second-largest island in the Mediterranean Sea, with an area of 24,100 square kilometres. Surface waters collected and regulated in water reservoirs are the main water supplies in this Italian Region. Drinking water
Gianfredi Vincenza, Moretti Massimo, Posadino S, Vannini Samuele, Fatigoni C, Azara Antonio, Villarini Milena, Monarca Silvano   +7 more
core   +1 more source

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome

Frontiers in Genetics
IntroductionX-linked Alport syndrome (XLAS), caused by mutations in the COL4A5 gene, is an X-linked hereditary disease typically characterized by renal failure, hearing loss, and ocular abnormalities.
Haomiao Li, Shengnan Zhang, Wei Zhou, Chunli Wang, Chunhua Zhu, Sanlong Zhao, Fei Zhao, Zhanjun Jia, Aihua Zhang, Bixia Zheng, Guixia Ding   +10 more
doaj   +1 more source

Characterization of MLH1 exon 10 variants affecting potential ESRs by using an ESR-dependent minigene assay.

, 2016
(A) Strategy for mapping potential splicing regulatory regions in MLH1 exon 10. The horizontal bars under the sequence of MLH1 exon 10 represent the ~30 bp-long exonic fragments tested in the ESR-dependent minigene reporter assay (R1 to R4, nucleotide ...
Pascaline Gaildrat (845442), Mohamad Hamieh (845443), Thierry Frébourg (3212682), Stéphanie Baert-Desurmont (845445), Mario Tosi (845446), Alexandra Martins (845447), Omar Soukarieh (845441), Aurélie Drouet (845444)   +7 more
core   +1 more source

Compound Heterozygous Loss‐of‐Function Variants in CCM2L in a Fetus With Tetralogy of Fallot

Molecular Genetics & Genomic Medicine
Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.
Dandan Ling, Wanqin Xie, Xiao Mao, Zhiyu Liu, Yabing Tang, Fanjuan Kong   +5 more
doaj   +1 more source

Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome. [PDF]

Front Genet, 2023
Liang L, Wu H, Cai Z, Zhao J.
europepmc   +1 more source

Minigene specific qRT/PCR primers and probes.

, 2014
To avoid amplification of endogenous SOD-1, each primer/probe set includes vector sequence unique to the minigene (lower case). The exon 4 primer/probe set, E4 SPL, consists of E4FP, J45RP, and E4 PRB, whereas the exon 5 specific primer/probe set, E5 SPL,
Josh Nichols (605767), Walt F. Lima (449545), Timothy A. Vickers (605766), Cheryl Li (605768), Stanley T. Crooke (449546)   +4 more
core   +1 more source

Identification of a Novel Splice‐Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family

Molecular Genetics & Genomic Medicine
Background The calcium voltage‐gated channel subunit alpha1 F (CACNA1F) gene‐related retinal disorders have overlapping clinical symptoms and no definitive genotype–phenotype correlation, posing a challenge for diagnosis.
Mojiang Li, Cheng Chen, Yingshu Li, Ting Wen, Haiyan Zhou, Wanqin Xie   +5 more
doaj   +1 more source