Results 81 to 90 of about 11,911 (175)

High‐Throughput Isolation of Nanomouse‐Derived VHH Domains: A Practical Guide from Immunization to Nanobody Expression

open access: yesCurrent Protocols, Volume 6, Issue 7, July 2026.
Abstract Nanobodies are small but specific heavy chain–only antibody fragments. Their small size, relative stability, and ability to access difficult to reach deep‐tissue antigens makes them valuable research, diagnostic, and therapeutic tools. Nanobodies are derived from the variable heavy (VH) domain of heavy chain–only antibodies that are unique to ...
Tessa J. Casselman   +6 more
wiley   +1 more source

Effect of RNase H1 reduction on activity of SOD1 minigene ASOs.

open access: yes, 2014
A) SOD/TO cells were treated with an siRNA targeting human RNase H1. After 48 hours, RNase H-deficient and control cells were transfected with SOD1 ASOs at 50 nM.
Timothy A. Vickers (605766)   +1 more
core   +1 more source

Comparison of individual mutant and wild type allelic ratios in the VCP exon 15 and EMC7 (Left) and VCP exon 10 and EM7 (right) minigene reporter constructs.

open access: yes, 2022
Red points indicate significance in one, two, or all three of the minigene reporters. (TIFF)
Christy L. Rhine (4911415)   +9 more
core   +1 more source

Analysis of morpholino treatment: RT-PCR from minigene-transfected morpholino-treated Oli-neu cells.

open access: yes, 2013
RNA was extracted from cells transfected with the wild-type (Wt) and mutant (c.436C>G) minigene constructs (Mut, 2, 4, 6, 8, 10). Samples 2, 4, 6, 8 and 10 were treated with the morpholino oligonucleotide, whereas samples Mut and Wt were untreated ...
Mirella Filocamo (147731)   +5 more
core   +1 more source

Characterization of a novel AEL allele harboring a c.28 + 5G>A mutation on the ABO*A2.01 background: a study utilizing PacBio third-generation sequencing and functional assays

open access: yesFrontiers in Immunology
BackgroundMutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio
Lin-Nan Shao   +7 more
doaj   +1 more source

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

open access: yesMolecular Genetics & Genomic Medicine
Background SRP72‐associated hereditary bone marrow failure syndrome type 1 (BMFS1) has recently been described and only six families have been reported so far.
Wang Xiangwen   +3 more
doaj   +1 more source

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants [PDF]

open access: yes, 2021
PALB2 loss-of-function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice-site variants detected in approximately 113,000 women in the large-scale sequencing project Breast Cancer ...
Pérez Segura, Pedro   +16 more
core   +1 more source

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F

open access: yesMolecular Genetics & Genomic Medicine
Objective Variants of the proto‐cadherin 15 (PCDH15) gene are related to Usher syndrome type 1F (USH1F). The purpose of this study was to determine the genetic etiology of a USH1F family in China and to perform a minigene assay for the PCDH15 gene to ...
Qifan Ma   +3 more
doaj   +1 more source

Intrinsic Alu affects for RNA splicing in a minigene model

open access: yes
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
Mina Nakama, Bunta Imanaka, Yuma Kimoto
core   +1 more source

Minigene analysis of c.840-2A>G mutation in patient 3A.

open access: yes, 2014
(A) The GNAS-IVS10 minigene and primer designs. The construct made by using primers a and b spans from introns 9 to 12 and contains exons 10, 11, and 12 with a total length of 815 bp. Primers c, d, and e were used for semi-nested PCR.
Hui-Pin Hsiao (540543)   +14 more
core   +1 more source

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