Results 41 to 50 of about 11,911 (175)
Overview of synthetic minigene screening.
, 2012 a) Libraries are synthesized on programmable microarrays, cleaved from the chip surface and provided as a single mixture of antisense oligonucleotide templates.
Katharine V. Schwedhelm (188134) +11 more
core +1 more source
Splicing functional assays of a single minigene with eight exons of the BRCA2 gene [PDF]
, 2015 Resumen del póster presentado a la European Human Genetics Conference celebrada en Nuremberg (Alemania) del 23 al 26 de junio de 2012.Splicing disruptions is one key pathogenic mechanism in inherited diseases.
Acedo, Alberto +7 more
core +1 more source
Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
Frontiers in Medicine, 2022 BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling.
Haiyue Deng +3 more
doaj +1 more source
Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source
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) +4 more
core +1 more source
Frontiers in Genetics, 2023 NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c ...
Yuefang Liu +5 more
doaj +1 more source
Hyperactive KIF5A in Neurodegeneration
Cytoskeleton, EarlyView.ABSTRACT The highly polarised morphology of neurons and the sheer length of their axons make transport of cargoes throughout the cell a formidable task. Decades of evidence obtained from genetic studies on patients and animal models highlight deficits in axonal transport as a recurrent cause, or early contributing factor, in a plethora of ...
David Villarroel‐Campos +1 more
wiley +1 more source
Minigene splicing assay of IRF-3.
, 2013 (A) The wild type (wt) and mutant (mu) versions of the IRF-3 minigene are shown. PCMV, promoter of the pcDNA3.0 vector. pA, polyA signal. IRF-3 exons from 1 to 4 are numbered. The black solid line represents introns.
Jinying Ning (408159) +5 more
core +1 more source
Med Research, EarlyView.This review details a three‐stage paradigm shift for tumor‐reactive CD8+ T‐cell identification: decoding transcriptomic states, deciphering clonal functional efficacy, and molecular‐level therapeutic TCR design. Addressing translational hurdles and generative AI “scientific blind spots”—such as missing catch bonds—we present a visionary roadmap.
Chao Yang +4 more
wiley +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) +4 more
core +1 more source