Results 191 to 200 of about 129,104 (260)
Movement Disorders, EarlyView.Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang +13 more
wiley +1 more source
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform. [PDF]
Sci RepBui DT +12 more
europepmc +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
Nordic Journal of Botany, EarlyView.Bryophytes are important forest ecosystem elements, being an integral part of biodiversity. Genetic studies contribute to bryophyte population ecology by helping to understand species historical distribution patterns and genetic diversity at different scales.
Anna Mežaka +5 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source
Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang +11 more
wiley +1 more source
PLANTS, PEOPLE, PLANET, EarlyView.The jewel‐like flowers of Thismia are as rare as they are beautiful, often recorded from only a single site per species. Access to 15 populations of T. kobensis has enabled an uncommon, range‐wide assessment of morphology, genetics, and fungal partners. Our analyses showed that T.
Kenji Suetsugu +4 more
wiley +1 more source
Genomic structure and ex situ conservation of the North American grapevine Vitis labrusca
PLANTS, PEOPLE, PLANET, EarlyView.The North American wild grapevine species Vitis labrusca is an important source of disease resistance and climate resilience traits for breeding new grapevine cultivars. To ensure its continued use in breeding, V. labrusca must be accurately identified and genetically diverse material must be conserved.
Zoë Migicovsky +18 more
wiley +1 more source
Past, present and future of local crop evolution
PLANTS, PEOPLE, PLANET, EarlyView.Promoting agrobiodiversity is a promising strategy for mitigating the negative effects of climate change on global food security. We highlight the central role evolutionary processes play in harnessing the potential of local crops by integrating genomics, archaeology, ethnobotany and traditional ecological knowledge (TEK).
Nataly Allasi Canales +6 more
wiley +1 more source
From wild to tamed: Reimagining novel crops through omics and local plant diversity
PLANTS, PEOPLE, PLANET, EarlyView.The global food system faces growing pressure from climate change, biodiversity loss, and rising nutritional demands. Agriculture has increased yields but reduced crop diversity, flavor, and nutritional quality, leaving societies vulnerable and dependent on a narrow set of staple species.
Alexandra Sanfeliu Meliá +1 more
wiley +1 more source