Deep intronic variant - Open Access .click

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DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome

Clinical Immunology
Dedicator of cytokinesis 8 (DOCK8) deficiency underlies the majority of cases of patients with autosomal recessive form of the hyper-immunoglobulin E syndrome (HIES). Most DOCK8 mutations involve deletions and splice junction mutations that abrogate protein expression.
Oktelik, Fatma Betul +10 more
openaire +3 more sources

Shared genetics between ADHD and reading/language abilities: Genome‐wide correlations, stratified enrichment, cross‐trait association, and mendelian randomization

JCPP Advances, EarlyView.
Abstract Background Attention‐deficit/hyperactivity disorder (ADHD) and language/reading difficulties frequently co‐occur. The extent of shared genetic architecture remains incompletely defined. We investigated genome‐wide overlap between ADHD and four core skills: word reading, nonword reading, spelling, and phoneme awareness.
Jinzhu Zhao +5 more
wiley +1 more source

Molecular characterization of Alkaptonuria in Brazilian patients

Molecular Genetics and Metabolism Reports
Objective: Alkaptonuria is a rare inborn error of metabolism, with few reports from Brazil and typically lacking genotype descriptions in the Brazilian population.
Carolina Araújo Moreno +8 more
doaj +1 more source

Current Evidence for Circulating Tumor DNA in Sarcoma: Challenges and Opportunities for Clinical Application

Journal of Surgical Oncology, EarlyView.
ABSTRACT Sarcomas represent a diverse group of mesenchymal tumors with high rates of recurrence after resection. While recent technical advances have enabled the detection of rare circulating tumor DNA (ctDNA) in other malignancies, the complexity and heterogeneity of sarcoma genomics have historically limited ctDNA in these cancers.
Kristin E. Goodsell +5 more
wiley +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant

Abstract Antisense therapeutics such as splice-modulating antisense oligonucleotides (ASOs) are promising tools to treat diseases caused by splice-altering intronic variants. However, their testing in animal models is hampered by the generally poor sequence conservation of the intervening sequences between human and ...
Véronique Bolduc +9 more
openaire +2 more sources

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki +10 more
wiley +1 more source

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina +7 more
wiley +1 more source

A deep intronic SMARCB1 variant associated with schwannomatosis

Clinical Genetics, 2019
Miriam J. Smith +11 more
openaire +3 more sources

humans
introns
mutation

male
3. good health
rna splicing

medicine
whole genome sequencing
female