Exon skipping - Open Access .click

Results 101 to 110 of about 49,802 (297)

Correction to the pathogenic alternative splicing, caused by the common GNB3 c.825C>T allele, using a novel, antisense morpholino [PDF]

, 2016
The very common GNB3 c.825C>T polymorphism (rs5443), is present in approximately half of all human chromosomes. Significantly the presence of the GNB3 825T allele has been strongly associated, with predisposition to essential hypertension ...
Lester, Douglas H. +2 more
core +3 more sources

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori +9 more
wiley +1 more source

Systemic Antisense Therapeutics for Dystrophin and Myostatin Exon Splice Modulation Improve Muscle Pathology of Adult mdx Mice

Molecular Therapy: Nucleic Acids, 2017
Antisense-mediated exon skipping is a promising approach for the treatment of Duchenne muscular dystrophy (DMD), a rare life-threatening genetic disease due to dystrophin deficiency.
Ngoc Lu-Nguyen +5 more
doaj +1 more source

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). [PDF]

, 1994
The gene responsible for X-linked agammaglobulinemia (XLA) has been recently identified to code for a cytoplasmic tyrosine kinase (Bruton's agammaglobulinemia tyrosine kinase, BTK), required for normal B cell development. BTK, like many other cytoplasmic
Chen, SH +11 more
core +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

ps2, the gene responsible for functional sterility in tomato, due to non-dehiscent anthers, is the result of a mutation in a novel polygalacturonase gene [PDF]

, 2009
The recessive mutation ps-2, which appeared spontaneously in tomato, confers functional male sterility due to non-dehiscent anthers. In this study, we isolated and characterized the PS-2 gene.
Gorguet, B.J.M. +4 more
core +2 more sources

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source

SERpredict: Detection of tissue- or tumor-specific isoforms generated through exonization of transposable elements [PDF]

, 2007
Background: Transposed elements (TEs) are known to affect transcriptomes, because either new exons are generated from intronic transposed elements (this is called exonization), or the element inserts into the exon, leading to a new transcript.
Ast, Gil +4 more
core +3 more sources

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

Animal Models and Experimental Medicine, EarlyView.
Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry +12 more
wiley +1 more source

Alternative Splicing of Circadian Clock Genes Correlates With Temperature in Field-Grown Sugarcane [PDF]

, 2019
Alternative Splicing (AS) is a mechanism that generates different mature transcripts from precursor mRNAs (pre-mRNAs) of the same gene. In plants, a wide range of physiological and metabolic events are related to AS, as well as fast responses to changes ...
Alabadí +111 more
core +2 more sources

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