Results 81 to 90 of about 13,128 (181)

LNCipedia 5 : towards a reference set of human long non-coding RNAs [PDF]

open access: yes, 2019
While long non-coding RNA (lncRNA) research in the past has primarily focused on the discovery of novel genes, today it has shifted towards functional annotation of this large class of genes.
Anckaert, Jasper   +6 more
core   +1 more source

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease

open access: yesJIMD Reports, Volume 67, Issue 3, May 2026.
Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Rebecca L. Koch   +13 more
wiley   +1 more source

Melanin fate in the human epidermis: a re-assessment of how best to detect and analyze histologically [PDF]

open access: yes, 2016
YesMelanin is the predominant pigment responsible for skin colour, and is synthesized by the melanocyte in the basal layer of the epidermis and then transferred to surrounding keratinocytes.
Bell, M.   +3 more
core   +1 more source

Brain Proteomic Responses to Glucocorticoids and Their Relationship With Transcriptome: A Systematic Meta‐Analysis

open access: yesThe FASEB Journal, Volume 40, Issue 8, 30 April 2026.
An overlap between proteomic and transcriptomic findings in experiments testing brain responses to glucocorticoids. A shows that 455 proteins responsive to glucocorticoids were not confirmed at the transcriptomic level while 4 proteins were matched with significant differences in mRNA in all 8 datasets derived from transcriptomic experiments.
Grzegorz R. Juszczak
wiley   +1 more source

Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer

open access: yesGenetics in Medicine Open
Purpose: To understand the broader genetic landscape of male breast cancer (MBC), focusing on the utility of genome sequencing (GS) beyond BRCA1/2 (HGNC: 1100, 1101) variants. Methods: Twenty-four patients with MBC underwent a multistep genetic analysis.
Wen Wen   +14 more
doaj   +1 more source

Reproducible probe-level analysis of the Affymetrix Exon 1.0 ST array with R/Bioconductor

open access: yes, 2013
The presence of different transcripts of a gene across samples can be analysed by whole-transcriptome microarrays. Reproducing results from published microarray data represents a challenge due to the vast amounts of data and the large variety of pre ...
Bødker, Julie Støve   +7 more
core   +1 more source

The PITA System: Tabling and Answer Subsumption for Reasoning under Uncertainty [PDF]

open access: yes, 2011
Many real world domains require the representation of a measure of uncertainty. The most common such representation is probability, and the combination of probability with logic programs has given rise to the field of Probabilistic Logic Programming (PLP)
Bauters   +11 more
core   +1 more source

Evaluating Transcriptomic Biomarkers for rHuEPO Detection: Assessing the Impact of Exercise and Altitude Exposure

open access: yesDrug Testing and Analysis, Volume 18, Issue 4, Page 581-602, April 2026.
A two‐stage transcriptomic filter comparing rHuEPO, exercise and altitude responses reduced 153 candidate genes to 50 that were unaffected by physiological stimuli. These retained transcripts offer focused biomarker leads to strengthen antidoping detection of rHuEPO.
Daria Obratov   +4 more
wiley   +1 more source

Determining the Molecular Background of Endometrial Receptivity in Adenomyosis

open access: yesBiomolecules, 2020
Background: Adenomyosis is a gynaecological condition with limited evidence of negative impact to endometrial receptivity. It is commonly associated with endometriosis, which has been shown to alter endometrial expression patterns.
Erika Prašnikar   +5 more
doaj   +1 more source

Validation of suspected somatic Single Nucleotide Variations in the brain of Alzheimer disease patients [PDF]

open access: yes, 2017
Next-generation sequencing techniques and genome-wide association study analyses have provided a huge amount of data, thereby enabling the identification of DNA variations and mutations related to disease pathogenesis.
Avila, Jesús   +6 more
core   +1 more source

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