Results 91 to 100 of about 5,748,368 (263)

Scale for methodologic Quality Assessment of the Single Nucleotide Polymorphism association studies of IBD.

open access: yes, 2015
Scale for methodologic Quality Assessment of the Single Nucleotide Polymorphism association studies of IBD.
Side Liu (428794)   +5 more
core   +1 more source

Probing the Energy Landscape of α‐Synuclein Amyloid Fibril Formation by Systematic K‐to‐Q Mutagenesis

open access: yesAdvanced Science, EarlyView.
We use lysine‐to‐glutamine mutations to study the effect of electrostatics on the kinetics and thermodynamics of alpha‐synuclein amyloid fibril formation. We find that mutational effects map on their structural context within fibrils and identify residues that modulate the energy landscape of alpha‐synuclein self‐assembly. Our work outlines a scalable,
Antonin Kunka   +10 more
wiley   +1 more source

Human Brain Single Nucleotide Polymorphism: Validation of DNA Sequencing

open access: yesJournal of Alzheimer's Disease Reports, 2018
Genetic factors may be involved in the onset of neurodegenerative diseases like Alzheimer’s disease. In the case of the familial type, the disease is due to an inherited mutation at specific sites in three genes. Also, there are some genetic risk factors
Ángel J. Picher   +4 more
doaj   +1 more source

Raman Analysis of RNA Nucleotide Strands From SARS‐CoV‐2 Variants and Subvariants: A Step Forward in the Definition of “Raman Genome”

open access: yesAdvanced Science, EarlyView.
Main Raman signals in RNA, related to helical backbone, ribofuranose ring, and nitrogenous bases, are affected by secondary structures that cause hyperchromic effects and significantly alter the Raman intensity. ABSTRACT Raman spectra of RNA nucleotide strands extracted from 20 SARS‐CoV‐2 strains, including the original Japanese isolate, Alpha, Beta ...
Giuseppe Pezzotti   +11 more
wiley   +1 more source

Single nucleotide polymorphism (SNP) association analysis comparing IBD patients with control.

open access: yes, 2019
Single nucleotide polymorphism (SNP) association analysis comparing IBD patients with control.
Walter A. Koltun (243529)   +6 more
core   +1 more source

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

open access: yesAdvanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin   +18 more
wiley   +1 more source

Single nucleotide polymorphism analysis in interstitial cystitis/painful bladder syndrome.

open access: yesPLoS ONE, 2019
IntroductionInterstitial Cystitis (IC) is a chronic condition diagnosed based on the presence of symptoms, such as suprapubic/ pelvic pain, pressure or discomfort in association with urgency and increased urinary frequency.
Valter D Cassão   +6 more
doaj   +1 more source

DNAzyme based gap-LCR detection of single-nucleotide polymorphism

open access: yes, 2013
Fast and accurate detection of single-nucleotide polymorphism (SNP) is thought more and more important for understanding of human physiology and elucidating the molecular based diseases.
Du, F   +5 more
core  

Additional single-nucleotide polymorphism markers at the 92 unambiguously inferred haplotypes in this study.

open access: yes, 2016
Additional single-nucleotide polymorphism markers at the 92 unambiguously inferred haplotypes in this study.
Petr Jarolim (3391775)   +20 more
core   +1 more source

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

open access: yesAdvanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu   +11 more
wiley   +1 more source

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