Results 61 to 70 of about 11,911 (175)
Molecular Genetics & Genomic Medicine, 2023 Background X‐linked adrenal hypoplasia congenita (AHC) is a rare disorder, often manifesting as primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), and caused by variants of NR0B1, most of which are frame‐shifting variants, and ...
Yuqing Jiang +9 more
doaj +1 more source
RNA‐Guided Engineering of the Chloroplast Genome Enabled by Plastid‐Expressed Guide RNAs
Plant Biotechnology Journal, Volume 24, Issue 10, Page 5498-5509, October 2026.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
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons [PDF]
, 2015 This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License.Numerous pathogenic DNA variants impair the splicing mechanism in human genetic diseases.
Acedo, Alberto +4 more
core +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1851-1865, September 2026.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
, 2018 (A) The 3000-bp region of RET containing exons 10, 11, and 12 (orange bars) was analyzed with Geneious 10.0.5 software to reduce the intronic sequences including only fundamental consensus splicing motifs (donor, acceptor and branch sites) (26) (B) Three
Valeria Pecce (5855606) +10 more
core +1 more source
RNA‐Binding Proteins: Function, Biological Mechanisms, and Therapeutic Opportunities
MedComm, Volume 7, Issue 9, September 2026.RNA‐binding proteins (RBPs) regulate RNA stability, localization, translation, and splicing through intrinsic binding domains and interactions with diverse cellular partners. Their competitive and cooperative networks shape disease‐related RNA programs, especially in cancer.
Ling Li, Xiuli Yan, Qing Ji, Hui Zhang
wiley +1 more source
Effect of MYO15A c. 9948G>A using a minigene approach.
, 2014 An agarose gel containing RT-PCR products detected from HEK293T cells transfected with the wildtype and mutant minigene construct and a schematic representation of the identified splicing products.
Alamdar Hussain (323649) +15 more
core +1 more source
Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays [PDF]
Background/Objectives: Hereditary hearing loss (HHL) is a genetically heterogeneous condition, involving more than 150 genes in non-syndromic cases and associated with over 400 distinct disorders in syndromic forms.
Rubinato, Elisa +8 more
core +2 more sources
Functional analysis of a new splicing mutation in the MYBPC3 gene in hypertrophic cardiomyopathy
Бюллетень сибирской медициныAim. To study the pathogenic effect in the MYBPC3 splice-site variant in the patient with hypertrophic cardiomyopathy. Materials and methods. The study was conducted using a DNA sample obtained from a patient with hypertrophic cardiomyopathy, in whom a ...
R. R. Salakhov +6 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.Whole‐exome sequencing identified compound heterozygous CPAMD8 variants supporting a congenital cataract phenotype in one family and candidate CPAMD8 variants in a second family with pathologic myopia, highlighting the need for segregation and functional validation.
Qiu‐ling Xie +4 more
wiley +1 more source