Results 41 to 50 of about 9,190 (179)
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
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
Survivin minigene DNA vaccination is effective against neuroblastoma [PDF]
AbstractThe inhibitor of apoptosis protein survivin is highly expressed in neuroblastoma (NB) and survivin‐specific T cells were identified in Stage 4 patients. Therefore, we generated a novel survivin minigene DNA vaccine (pUS‐high) encoding exclusively for survivin‐derived peptides with superior MHC class I (H2‐Kk) binding affinities and tested its ...
Stefan, Fest +14 more
openaire +2 more sources
Expression and amplification of engineered mouse dihydrofolate reductase minigenes. [PDF]
We constructed mouse dihydrofolate reductase (DHFR) minigenes (dhfr) that had 1.5 kilobases of 5' flanking sequences and contained either none or only one of the intervening sequences that are normally present in the coding region. They were greater than or equal to 3.2 kilobase long, about one-tenth the size of the corresponding chromosomal gene. Both
G F, Crouse, R N, McEwan, M L, Pearson
openaire +2 more sources
RNA‐Guided Engineering of the Chloroplast Genome Enabled by Plastid‐Expressed Guide RNAs
ABSTRACT Our goal is to develop RNA‐guided engineering of the chloroplast genome using the CRISPR/Cas9 system. We designed chloroplast minigenes to obtain properly sized single guide RNAs (sgRNAs) in tobacco chloroplasts. The sgRNA 5′ end is defined by transcription from an rRNA operon promoter, and its 3′ end by processing a downstream tRNA (trnG) or ...
Malihe Mirzaee +3 more
wiley +1 more source
Identification of a novel CACNA1F mutation in a Chinese family with CORDX3
Background X‐linked cone‐rod dystrophy (CORDX) is one form of inherited retinal disorders (IRDs) characterized by progressive dysfunction of photoreceptor. Three types of CORDX were reported and CACNA1F gene defect can cause CORDX3. The aim of this study
Meng Du +8 more
doaj +1 more source
Abstract Background Although widely studied and reported for more than 30 years, the molecular basis of Rh D‐negativity has remained unexplored in several regions of the world, including in Indonesia, Southeast Asia. Study Design and Methods A subset of 436 Indonesian blood donors originally typed D‐negative (D–) by routine serological testing was ...
Tonny Wongso +11 more
wiley +1 more source
This study identifies SNRPF as a critical oncogenic driver in ovarian cancer. By regulating a self‐sustaining SNRPF–DDX24–E2F4 feedback loop through intron retention and nonsense‐mediated decay, SNRPF couples RNA splicing with transcriptional regulation to promote tumor progression.
Yingwei Li +4 more
wiley +1 more source
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu +5 more
wiley +1 more source
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic +10 more
wiley +1 more source

