Functional analysis of recurrent CDC20 promoter variants in human melanoma.

Small nucleotide variants in non-coding regions of the genome can alter transcriptional regulation, leading to changes in gene expression which can activate oncogenic gene regulatory networks. Melanoma is heavily burdened by non-coding variants, representing over 99% of total genetic variation, including the well-characterized TERT promoter mutation. However, the compendium of regulatory non-coding variants is likely still functionally under-characterized.

Bidialectal and monodialectal differences in morphosyntactic processing of AAE and MAE: Evidence from ERPs and acceptability judgments.

Introduction: African American English (AAE) has never been examined through neurophysiological methods in investigations of dual-language variety processing. This study examines whether contrastive and non-contrastive morphosyntactic features in sentences with and without AAE constructions elicit differing neural and/or behavioral responses in bidialectal speakers of AAE and Mainstream American English (MAE), compared to monodialectal MAE speakers. We compared electroencephalographic (EEG) and behavioral (grammatical acceptability judgment) data to determine whether two dialects are processed similarly to distinct languages, as seen in studies of bilingual codeswitching where the P600 event related potential (ERP) has been elicited when processing a switch between language varieties.

Acute responses of stevia and d-tagatose intake on metabolic parameters and appetite/satiety in insulin resistance.

Objective: To examine the effects of d-tagatose or stevia preloads on carbohydrate metabolism markers after an oral glucose load, as well as subjective and objective appetite in women with insulin resistance (IR).

Research Design And Methods: Randomized controlled crossover study. Women with IR without T2DM (n = 33; aged 23.

Transcriptional profile and chromatin accessibility in zebrafish melanocytes and melanoma tumors.

Transcriptional and epigenetic characterization of melanocytes and melanoma cells isolated from their in vivo context promises to unveil key differences between these developmentally related normal and cancer cell populations. We therefore engineered an enhanced Danio rerio (zebrafish) melanoma model with fluorescently labeled melanocytes to allow for isolation of normal (wild type) and premalignant (BRAFV600E-mutant) populations for comparison to fully transformed BRAFV600E-mutant, p53 loss-of-function melanoma cells. Using fluorescence-activated cell sorting to isolate these populations, we performed high-quality RNA- and ATAC-seq on sorted zebrafish melanocytes vs.

Functional in vivo characterization of sox10 enhancers in neural crest and melanoma development.

The role of a neural crest developmental transcriptional program, which critically involves Sox10 upregulation, is a key conserved aspect of melanoma initiation in both humans and zebrafish, yet transcriptional regulation of sox10 expression is incompletely understood. Here we used ATAC-Seq analysis of multiple zebrafish melanoma tumors to identify recurrently open chromatin domains as putative melanoma-specific sox10 enhancers. Screening in vivo with EGFP reporter constructs revealed 9 of 11 putative sox10 enhancers with embryonic activity in zebrafish.

Comparison of Reproducibility, Accuracy, Sensitivity, and Specificity of miRNA Quantification Platforms.

Given the increasing interest in their use as disease biomarkers, the establishment of reproducible, accurate, sensitive, and specific platforms for microRNA (miRNA) quantification in biofluids is of high priority. We compare four platforms for these characteristics: small RNA sequencing (RNA-seq), FirePlex, EdgeSeq, and nCounter. For a pool of synthetic miRNAs, coefficients of variation for technical replicates are lower for EdgeSeq (6.

Author Correction: Transposable elements drive widespread expression of oncogenes in human cancers.

In the version of this article initially published, grant PF-17-201-01-TBG from the American Cancer Society to author Erica C. Pehrsson was not included in the Acknowledgements. The error has been corrected in the HTML and PDF versions of the article.

Transposable elements drive widespread expression of oncogenes in human cancers.

Transposable elements (TEs) are an abundant and rich genetic resource of regulatory sequences. Cryptic regulatory elements within TEs can be epigenetically reactivated in cancer to influence oncogenesis in a process termed onco-exaptation. However, the prevalence and impact of TE onco-exaptation events across cancer types are poorly characterized.

Large Differences in Small RNA Composition Between Human Biofluids.

Extracellular microRNAs (miRNAs) and other small RNAs are implicated in cellular communication and may be useful as disease biomarkers. We systematically compared small RNAs in 12 human biofluid types using RNA sequencing (RNA-seq). miRNAs and tRNA-derived RNAs (tDRs) accounted for the majority of mapped reads in all biofluids, but the ratio of miRNA to tDR reads varied from 72 in plasma to 0.

Comprehensive multi-center assessment of small RNA-seq methods for quantitative miRNA profiling.

RNA-seq is increasingly used for quantitative profiling of small RNAs (for example, microRNAs, piRNAs and snoRNAs) in diverse sample types, including isolated cells, tissues and cell-free biofluids. The accuracy and reproducibility of the currently used small RNA-seq library preparation methods have not been systematically tested. Here we report results obtained by a consortium of nine labs that independently sequenced reference, 'ground truth' samples of synthetic small RNAs and human plasma-derived RNA.

[Oral polio vaccine in infants does not interfere in detection of enterovirus in blood].

Introduction: There is not known if a viraemia post-oral polio vaccine (OPV) is detectable by modern molecular techniques. Such viraemia could affect the performance of the real time-polymerase chain reaction (PCR) for non polio enterovirus (EV) detection, technique of growing clinical use for the study of febrile infants.

Objective: To determine viraemia post-first dose of OPV in healthy infants, by molecular techniques.

Common features of sexual dimorphism in the cranial airways of different human populations.

Sexual dimorphism in the human craniofacial system is an important feature of intraspecific variation in recent and fossil humans. Although several studies have reported different morphological patterns of sexual dimorphism in different populations, this study searches for common morphological aspects related to functional anatomy of the respiratory apparatus. 3D geometric morphometrics were used to test the hypothesis that due to higher daily energy expenditure and associated greater respiratory air consumption as well as differences in body composition, males should have absolutely and relatively greater air passages in the bony cranial airways than females.

Development and characterization of a highly specific and sensitive SYBR green reverse transcriptase PCR assay for detection of the 2009 pandemic H1N1 influenza virus on the basis of sequence signatures.

The emergence and rapid spread of the 2009 H1N1 pandemic influenza virus showed that many diagnostic tests were unsuitable for detecting the novel virus isolates. In most countries the probe-based TaqMan assay developed by the U.S.

Andes virus antigens are shed in urine of patients with acute hantavirus cardiopulmonary syndrome.

Hantavirus cardiopulmonary syndrome (HCPS) is a highly pathogenic emerging disease (40% case fatality rate) caused by New World hantaviruses. Hantavirus infections are transmitted to humans mainly by inhalation of virus-contaminated aerosol particles of rodent excreta and secretions. At present, there are no antiviral drugs or immunotherapeutic agents available for the treatment of hantaviral infection, and the survival rates for infected patients hinge largely on early virus recognition and hospital admission and aggressive pulmonary and hemodynamic support.

Anaplasma platys in dogs, Chile.

We conducted a 16S rRNA nested PCR for the genus Ehrlichia and Ehrlichia spp. with blood samples from 30 ill dogs in Chile. Phylogenetic analysis was performed by using groESL gene amplification.

Prospective evaluation of household contacts of persons with hantavirus cardiopulmonary syndrome in chile.

Background: Andes virus (ANDV) infection, which has a case fatality rate of 37% in Chile, often occurs in household clusters and may be transmitted from person to person.

Methods: To determine the incidence and risk factors for additional household cases, we conducted a prospective study among recent household contacts of persons with hantavirus cardiopulmonary syndrome (HCPS) in Chile, including testing of serum for anti-hantavirus antibodies and blood cells for ANDV RNA by reverse-transcription polymerase chain reaction (RT-PCR).

Results: We enrolled 76 index case patients and 476 household contacts, of whom 16 (3.

[Presence of Bartonella henselae in cats: natural reservoir quantification and human exposition risk of this zoonoses in Chile].

Background: The availability of a serologic test for cat scratch disease in humans has allowed the diagnosis of an increasing number of cases of this disease in Chile.

Aim: To perform a serological survey for Bartonella henselae among cats in Chile.

Material And Methods: Blood samples from 187 cats living in three Chilean cities were obtained.

[Search of amantadine-resistance in influenza A strains isolated in Santiago, Chile, 2001-2002].

Amantadine has been used for prevention and treatment of influenza A infection. It blocks the proton through the M2 ion channel. Drug-resistant viruses appear quickly when this therapy is used.

Dengue-1 virus isolation during first dengue fever outbreak on Easter Island, Chile.

Dengue virus was detected for the first time in Chile, in an outbreak of dengue fever on Easter Island. The virus was isolated in tissue culture and characterized by reverse transcription-polymerase chain reaction as being dengue type 1.

Hantavirus prevalence in the IX Region of Chile.

An epidemiologic and seroprevalence survey was conducted (n=830) to assess the proportion of persons exposed to hantavirus in IX Region Chile, which accounts for 25% of reported cases of hantavirus cardiopulmonary syndrome. This region has three geographic areas with different disease incidences and a high proportion of aboriginals. Serum samples were tested for immunoglobulin (Ig) G antibodies by enzyme-linked immunosorbent assay against Sin Nombre virus N antigen by strip immunoblot assay against Sin Nombre, Puumala, Río Mamoré, and Seoul N antigens.