Results 41 to 50 of about 9,190 (179)

Artificial Intelligence for Identifying Tumor‐Reactive CD8+ T Cells: Biological Principles, Computational Advances, and Future Directions

open access: yesMed 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

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

open access: yesFrontiers 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

Survivin minigene DNA vaccination is effective against neuroblastoma [PDF]

open access: yesInternational Journal of Cancer, 2009
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]

open access: yesMolecular and Cellular Biology, 1983
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

open access: yesPlant Biotechnology Journal, EarlyView.
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

open access: yesMolecular Genetics & Genomic Medicine, 2022
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

Investigating the molecular basis of the serological Rh D‐negative phenotype in Indonesia: nature, frequency, and impact for diagnostics

open access: yesTransfusion, EarlyView.
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

Disruption of the SNRPF–DDX24–E2F4 Feedback Loop Uncouples Splicing and Transcriptional Regulation to Suppress Ovarian Cancer Progression

open access: yesAdvanced Science, Volume 13, Issue 44, 7 August 2026.
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

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
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

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

open access: yesActa Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
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

Home - About - Disclaimer - Privacy