Results 101 to 110 of about 1,974,376 (233)

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report

open access: yesMolecular Genetics & Genomic Medicine
Background Synonymous variants are non‐pathogenic due to non‐substitution of amino acids. However, synonymous exonic terminal nucleotide substitutions may affect splicing.
Liya Wang   +8 more
doaj   +1 more source

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis [PDF]

open access: yes, 2013
Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10−4).
International Ibd Genetics Consortium   +999 more
core   +1 more source

Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.

open access: yesPLoS ONE, 2012
BackgroundRecent genome-wide association studies (GWAS) have identified common variants in the UMOD region associated with kidney function and disease in the general population.
Anna Köttgen   +12 more
doaj   +1 more source

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

open access: yesAdvanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song   +9 more
wiley   +1 more source

Severe nonketotic hyperglycinaemia due to a synonymous variant

open access: yesMolecular Genetics and Metabolism Reports
Nonketotic hyperglycinaemia (NKH) is an autosomal recessive neurometabolic disorder resulting from deficient glycine cleavage system activity, causing severe neurological impairment.
Ping Pang   +4 more
doaj   +1 more source

The effect of multiple bioinformatic predictors for non-synonymous variants.

open access: yes, 2014
Ranking is done only within the set of variants selected by the backward elimination procedure. (a) Median rank of causal variants for two disease models (M1 and M2) and three values for the NS:S ratio (R = {0.6, 1.0, 1.4}).
Iuliana Ionita-Laza (46441)   +4 more
core   +1 more source

Overcoming Drug Resistance by Paclitaxel Resistance in Triple‐Negative Breast Cancer

open access: yesAdvanced Science, EarlyView.
In the murine triple‐negative breast cancer (TNBC) model, chemotherapy effectively increases tumor neoantigen burden (TNB). Here, the study constructs a liposomal nanovaccine using antigens derived from in vitro chemotherapy‐treated paclitaxel‐resistant TNBC 4T1 cells.
Bo Chen   +10 more
wiley   +1 more source

Conformational dynamics of non-synonymous variants at protein interfaces reveals disease association

open access: yesProteins: Structure, Function, and Bioinformatics, 2015
Recent studies have shown that the protein interface sites between individual monomeric units in biological assemblies are enriched in disease‐associated non‐synonymous single nucleotide variants (nsSNVs).
Brandon M. Butler   +3 more
semanticscholar   +1 more source

Rare non-synonymous variants of HsIFNλ4 affect antiviral activity.

open access: yes, 2018
(A) Ancestry-based localization and frequency of human non-synonymous variants of HsIFNλ4 in African (AFR), South Asian (SAS), East Asian (EAS), European (EUR) and American (AMR) populations within the 1000 Genomes Database.
Daniel Mair (5849150)   +10 more
core   +1 more source

Switching Spike Plasticity Shapes ACE2 Engagement Across SARS‐CoV‐2 Variants

open access: yesAdvanced Science, EarlyView.
Conformational plasticity governs SARS‐CoV‐2 spike function and ACE2 recognition. Using high‐speed AFM and single‐molecule force spectroscopy, we analyzed the ancestral spike and nine variants, revealing progressive rigidification from Delta, variable plasticity in Omicron sublineages, and JN.1 compaction.
Sarah Stainer   +17 more
wiley   +1 more source

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