Exonic variant - Open Access .click

Results 101 to 110 of about 27,823 (222)

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

An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière’s disease

npj Genomic Medicine
Menière’s disease (MD) is an inner ear disorder characterised by episodes of vertigo, sensorineural hearing loss and tinnitus linked to autoinflammation and/or type 2 immune response.
Pablo Cruz-Granados +4 more
doaj +1 more source

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

Movement Disorders, EarlyView.
Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila +11 more
wiley +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam +4 more
wiley +1 more source

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto +4 more
wiley +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa +10 more
wiley +1 more source

Ethnobotanical and genetic assessments of Central American avocado landraces reveal novel sources of biodiversity and ancient migration patterns

PLANTS, PEOPLE, PLANET, EarlyView.
Avocados are a multibillion‐dollar global commodity, but their growing export market pressures local farmers to abandon local fruit tree diversity in favor of commercial cultivar production. Interviews with rural avocado farmers and households from the Southern Mexican Highlands, Pacific Coastal Honduras, and Western Nicaragua, as well as the genetic ...
Kevin Wann +4 more
wiley +1 more source

Russian wheat aphid: a model for genomic plasticity and a challenge to breeders

Insect Science, EarlyView.
Invasive foundress finds suitable habitat and reproduces through pathogenesis. Wingless females produce life offspring quickly, which leads to high population densities. High population densities result in competition, which may induce epigenetic changes and wing development for dispersal.
Astrid Jankielsohn +8 more
wiley +1 more source

LPA Kringle IV Type‐2 Genetic Variants Are Associated With Apolipoprotein (a) Size, Hypertension, and Nonfasting Glucose Levels

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background High plasma lipoprotein (a) (Lp[a]) levels, largely regulated by variation in the LPA gene, are a causal risk factor for atherosclerotic cardiovascular disease.
Yihao Li +4 more
doaj +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

medicine
genetics
minigene assay

exon skipping
pre-mrna splicing