Results 101 to 110 of about 23,440 (247)

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

open access: yesMovement 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

Methodological development of human telomere sequencing with the Oxford Nanopore Technologies

open access: yes, 2023
Human DNA is protected with telomeres, which consist of the repetitive DNA-sequence TTAGGG. A 3’-overhang folds back and in combination with the shelterin complex protects the ends of the DNA. Telomeres shorten over time due to the end replication problem in cell proliferation which eventually leads to senescence or apoptosis, making the telomeres an ...
openaire   +1 more source

Non‐model plants: Challenges and solutions

open access: yes
Applications in Plant Sciences, EarlyView.
José M. Cunill‐Flores   +2 more
wiley   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

open access: yesMovement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino   +23 more
wiley   +1 more source

Rapid Culture-Independent Detection of Fish Pathogens Using Oxford Nanopore Technologies: Case-Based Insights Across Multiple Species and Tissues

open access: yesPathogens
Rapid and accurate diagnosis of infectious diseases in aquaculture is essential for preventing major economic and ecological losses. Traditional culture-based methods focus on isolation of individual pathogens, and often are burdened with extended ...
Konrad Wojnarowski   +5 more
doaj   +1 more source

Genetic analysis of the rare forest bryophyte Dicranum viride in the boreo‐nemoral zone near the northern distribution range limit

open access: yesNordic 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

Emergence of Dengue Virus Serotype 2 Cosmopolitan Genotype, Colombia

open access: yesEmerging Infectious Diseases
Using Oxford Nanopore technologies and phylogenetic analyses, we sequenced and identified the cosmopolitan genotype of dengue virus serotype 2 isolated from 2 patients in the city of Villavicencio, Meta department, Colombia. This identification suggests
David Martínez   +8 more
doaj   +1 more source

Biosurfactant production by Pseudomonas aeruginosa isolated from mining waste: From genomic analysis to development of a polymeric composite for removal of hexavalent chromium

open access: yesPolymer International, EarlyView.
Biosurfactant was produced by Pseudomonas aeruginosa using andiroba waste from Amazonia. A biosurfactant–alginate composite (Alg/BioS) was successfully synthesized via ionotropic gelation, and achieved up to 70% Cr6+ removal from water. Abstract Environmental contamination by heavy metals represents a significant challenge due to their persistence in ...
Paulo Diniz Austriaco   +11 more
wiley   +1 more source

Transcriptomic stress responses in Vaccinium spp. F1 hybrids: Implications for temperature‐resilient cranberry breeding using a crop wild relative

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
Climate extremes threaten the sustainability of cranberry production, a culturally and economically important North American crop. This study demonstrates that wild cranberries (Vaccinium oxycoccos) harbor genetic variation that may enhance cold stress resilience when introduced into cultivated cranberry through hybridization.
Audrey Dickinson   +5 more
wiley   +1 more source

Systematic detection of Oxford Nanopore adapter and barcode contamination in GenBank

open access: yesBMC Genomics
Background Oxford Nanopore Technologies (ONT) workflows attach synthetic adapters and barcode oligonucleotides to DNA fragments for priming and multiplexing.
Florencia Martino   +2 more
doaj   +1 more source

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