Results 51 to 60 of about 6,757 (149)
RNA‐Guided Engineering of the Chloroplast Genome Enabled by Plastid‐Expressed Guide RNAs
Plant 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
Frontiers in Pediatrics, 2023 BackgroundA novel autosomal recessive skeletal dysplasia resulting from pathogenic variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) has been recently delineated.
Yeqing Yuan +5 more
doaj +1 more source
Transfusion, 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
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays [PDF]
European Journal of Human Genetics, 2017 CHARGE syndrome is a rare genetic disorder mainly due to de novo and private truncating mutations of CHD7 gene. Here we report an intriguing hot spot of intronic mutations (c.5405-7G > A, c.5405-13G > A, c.5405-17G > A and c.5405-18C > A) located in CHD7 IVS25.
Marine Legendre +25 more
openaire +2 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Craniofacial microsomia (CFM) is a common congenital malformation with unknown pathogenesis. Although few cases have been reported, it is suggested that variants of the SF3B2 gene may lead to CFM.
Yongli Zhang +5 more
doaj +1 more source
Advanced 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
Molecular 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
Acta 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
Cancers, 2022 RAD51C loss-of-function variants are associated with an increased risk of breast and ovarian cancers. Likewise, splicing disruptions are a frequent mechanism of gene inactivation. Taking advantage of a previous splicing-reporter minigene with exons 2-8 (mgR51C_ex2-8), we proceeded to check its impact on the splicing of candidate ClinVar variants.
Lara Sanoguera-Miralles +8 more
openaire +4 more sources
Frontiers in GeneticsObjective: The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis.Methods: We utilized whole-exome sequencing (WES) for individual analysis (case 1) and ...
Ting Xiong +6 more
doaj +1 more source