Deep intronic variant - Open Access .click

Results 91 to 100 of about 2,902,010 (219)

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith +9 more
wiley +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology
Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD.
Jiao‐Jiao Xu +5 more
doaj +1 more source

A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome

We report a female patient with a de novo deep intronic variant in NSD1 detected by whole genome sequencing (WGS). RNA-seq revealed the creation of a novel exon (exonization), and methylation analysis showed an episignature pattern overlapping with Sotos
Parra, Alejandro +13 more
core +1 more source

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

, 2014
The genetic basis of many optic neuropathies remains unclear. Bonifert et al. show that deep intronic OPA1 mutations can account for the disease in a number of previously unsolved cases.
Kamenisch, York +19 more
core +1 more source

The Effect of Dicloxacillin Administration on Pharmacokinetics of Narrow Therapeutic Window Drugs: Phenytoin and Warfarin

Clinical Pharmacology &Therapeutics, EarlyView.
Dicloxacillin is a penicillinase‐resistant beta‐lactam antibiotic and potent activator of the Pregnane X receptor (PXR), known to induce CYP2C9, CYP2C19, and CYP3A4 activity. Clinical data suggest it reduces anticoagulation in warfarin‐treated patients and increases the risk of thromboembolic events.
Chanan Shaul +5 more
wiley +1 more source

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa

Background: Inherited retinal diseases (IRDs) are clinically complex and genetically heterogeneous visual impairment disorders with varying penetrance and severity.
Eyal Banin +7 more
core +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele [PDF]

Background/Objectives: Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in ABCA4 that affects the retina and is characterised by progressive central vision loss.
Gloggnitzer, Jiradet +15 more
core +2 more sources

A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family

Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal PHEX gene ...
Pekkinen, Minna +18 more
core +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry +23 more
wiley +1 more source

medicine
splicing
aberrant splicing

intronic variant
whole genome sequencing
minigene

rna splicing
whole-genome sequencing
neurosciences