Results 71 to 80 of about 9,190 (179)

Protocol for a minigene splice assay using the pET01 vector

STAR Protocols
Aberrant splicing plays a major role in hereditary disorders, yet characterizing molecular effects of splice variants poses challenges. Here, we present a protocol for an in vitro minigene splice assay using the pET01 vector. We describe steps for assay design, minigene plasmid cloning, transfection, RNA isolation, and cDNA synthesis.
Hannah Andreae, Marialessandra Curcio, Daniel Owrang, Sahar Esmaeelpour, Friederike Jahnke, Fritz Benseler, Nils Brose, Barbara Vona   +7 more
openaire   +4 more sources

Functional analysis of a new splicing mutation in the MYBPC3 gene in hypertrophic cardiomyopathy

Бюллетень сибирской медицины
Aim. To study the pathogenic effect in the MYBPC3 splice-site variant in the patient with hypertrophic cardiomyopathy. Materials and methods. The study was conducted using a DNA sample obtained from a patient with hypertrophic cardiomyopathy, in whom a ...
R. R. Salakhov, M. V. Golubenko, M. Y. Skoblov, R. R. Savchenko, N. R. Valiakhmetov, E. N. Pavlyukova, M. S. Nazarenko   +6 more
doaj   +1 more source

Identification of a Novel CD8 T Cell Epitope Derived from Plasmodium berghei Protective Liver-Stage Antigen

Frontiers in Immunology, 2018
We recently identified novel Plasmodium berghei (Pb) liver stage (LS) genes that as DNA vaccines significantly reduce Pb LS parasite burden (LPB) in C57Bl/6 (B6) mice through a mechanism mediated, in part, by CD8 T cells.
Alexander Pichugin, Stasya Zarling, Leah Perazzo, Patrick Emmet Duffy, Hidde Lolke Ploegh, Urszula Krzych   +5 more
doaj   +1 more source

Construction and expression of mouse thymidylate synthase minigenes.

Journal of Biological Chemistry, 1988
Mouse thymidylate synthase minigenes that lack introns were constructed by ligating restriction fragments containing 4.5, 1.0, or 0.25 kilobase pairs (kb) of 5'-flanking DNA of the normal thymidylate synthase gene and as little as 0.25 kb of 3'-flanking DNA to full-length thymidylate synthase cDNA.
J W, DeWille, C H, Jenh, T, Deng, C J, Harendza, L F, Johnson   +4 more
openaire   +2 more sources

Huangkui capsule mitigates diabetic nephropathy via epigenetic therapy effects

Frontiers in Pharmacology
BackgroundHuangkui capsule (HKC), a Chinese herbal medicine derived from Abelmoschus manihot (L.) ethanol extract, has clinical efficacy against diabetic nephropathy (DN).
Yihong Yu, Yihong Yu, Haitao Tang, Nan Li, Haitao Ge, Jie Wu, Harvest F. Gu, Harvest F. Gu   +7 more
doaj   +1 more source

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +1 more source

Intrinsic Alu affects for RNA splicing in a minigene model

Biochemistry and Biophysics Reports
Alu elements are commonly located in the introns of primate genomes and, once transcribed, can alter splicing patterns. The insertion of an antisense Alu element into intron 9 was shown to enhance exon 10 skipping in a previously developed ACAT1 minigene model including exon 9-exon 11.
Mina Nakama, Bunta Imanaka, Yuma Kimoto
openaire   +3 more sources

Preparation of a Functional Rat LDL Receptor Minigene

International Journal of Biomedical Investigation, 2019
The majority of the low-density lipoprotein (LDL) receptors present in the body are expressed in the liver. Therefore, plasma LDL levels significantly correlate with changes in the activity of the hepatic LDL receptor. Based on this, there is a need to understand the regulatory mechanisms that control the hepatic expression of the low-density ...
openaire   +1 more source

Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities

Frontiers in Genetics
Background: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf ...
Lun Wang, Yan Zhou, Tiantian Wei, Hongyao Huang, Hongyao Huang   +4 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source