Results 101 to 110 of about 104,742 (325)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou   +6 more
wiley   +1 more source

The gateway to guanine nucleotides: Allosteric regulation of IMP dehydrogenases. [PDF]

open access: yesProtein Sci, 2022
Buey RM   +3 more
europepmc   +1 more source

Dependence of nucleotide physical properties on their placement in codons and determinative degree

open access: yes, 2007
Various physical properties such as dipole moment, heat of formation and energy of the most stable formation of nucleotides and bases were calculated by PM3 (modified neglect of diatomic overlap, parametric method number 3) and AM1 (Austin model 1 ...
Berezhnoy, A. Yu., Duplij, Steven
core   +1 more source

Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and HLA‐DRB1*1501 Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset

open access: yesAnnals of Neurology, EarlyView.
Objectives Multiple sclerosis (MS) onset risk factors include Epstein–Barr virus (EBV) indices (including host response), lower serum 25‐vitamin D (25(OH)D) levels, low sun exposure, and HLA‐DRB1*1501. The underlying molecular mechanisms are unclear. Here, we examined mediation through differential DNA methylation (DNAm) to better understand possible ...
Steve Simpson‐Yap   +37 more
wiley   +1 more source

A single nucleotide polymorphism produces different transcription profiles in Campylobacter jejuni’s cysM

open access: yesFrontiers in Microbiology
A single nucleotide polymorphism (SNP) in the 126 bp untranslated region (UTR) directly upstream of Campylobacter jejuni’s cysM (cysteine synthase) results in significant effects on gene transcription.
Nereus W. Gunther IV   +6 more
doaj   +1 more source

Late-stage guanine C8–H alkylation of nucleosides, nucleotides, and oligonucleotides via photo-mediated Minisci reaction

open access: yesNature Communications
Chemically modified nucleosi(ti)des and functional oligonucleotides (ONs, including therapeutic oligonucleotides, aptamer, nuclease, etc.) have been identified playing an essential role in the areas of medicinal chemistry, chemical biology, biotechnology,
Ruoqian Xie   +8 more
doaj   +1 more source

Single molecule DNA sequencing via transverse electronic transport using a graphene nanopore: A tight-binding approach

open access: yes, 2016
We report a tight-binding model study of two-terminal graphene nanopore based device, for sequential determination of DNA bases. Using Greens function approach we calculate conductance spectra, I-V response and also the changes in local density of states
Karmakar, S. N., Kundu, Sourav
core  

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