Results 61 to 70 of about 125,484 (288)
Functional constraint and small insertions and deletions in the ENCODE regions of the human genome. [PDF]
, 2007 BACKGROUND: We describe the distribution of indels in the 44 Encyclopedia of DNA Elements (ENCODE) regions (about 1% of the human genome) and evaluate the potential contributions of small insertion and deletion polymorphisms (indels) to human genetic ...
Cooper, GM +11 more
core +1 more source
Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations
FEBS Letters, EarlyView.The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas +6 more
wiley +1 more source
Mitochondrial DNA Copy Number Variation as a Potential Predictor of Renal Cell Carcinoma [PDF]
The International Journal of Biological Markers, 2017 Background Peripheral blood mitochondrial DNA (mtDNA) copy number alteration has been suggested as a risk factor for several types of cancer. The aim of the present study was to assess the role of peripheral blood mtDNA copy number variation as a noninvasive biomarker in the prediction and early detection of ...
Eman Tayae +2 more
openaire +2 more sources
Studying Copy Number Variations in Cell-Free DNA: The Example of AR in Prostate Cancer [PDF]
, 2018 Serum and plasma cell-free DNA (cfDNA) has been shown as an informative noninvasive source of biomarkers for different diseases, including cancer. Starting from the hypothesis that the gain of androgen receptor (AR) gene is a frequent aberration in ...
Casadio, Valentina +3 more
core +1 more source
DNA copy number variations (14 cancer-associated genes) in non-small cell lung cancer
Якутский медицинский журналNon-small cell lung cancer (NSCLC) accounts for 85% of all lung cancers, 15-30% of which is squamous cell carcinoma, 54% is adenocarcinoma. The copy number variations (CNVs) as one of the factors affecting gene transcription activity is necessary to ...
R. D. Al-Nsour +4 more
doaj +1 more source
An Integrated Approach for RNA-seq Data Normalization
Cancer Informatics, 2016 Background DNA copy number alteration is common in many cancers. Studies have shown that insertion or deletion of DNA sequences can directly alter gene expression, and significant correlation exists between DNA copy number and gene expression.
Shengping Yang +3 more
doaj +1 more source
DNA rare copy number alterations in Reinke’s Edema
Brazilian Journal of Otorhinolaryngology, 2023 Introduction: Reinke’s Edema (RE) is a laryngeal lesion related to excessive tobacco smoking, voice overuse, and laryngopharyngeal reflux. Although the risk of malignancy has been considered low in literature, RE is classified among precancerous lesions.
Luis Eduardo Silva Móz +5 more
doaj +1 more source
FEBS Letters, EarlyView.An unexpected alternative interaction site for ethyl viologen was identified in formate dehydrogenase 1 from Methylorubrum extorquens. Combined mutagenesis, kinetic analysis, and docking revealed that aromatic residues near an iron–sulfur cluster enable flavin mononucleotide‐independent electron transfer, offering a framework for engineering improved ...
Eleni G. Poloniataki, Yong Hwan Kim
wiley +1 more source
Ribosomal DNA Copy Number Variation is Coupled with DNA Methylation Changes at the 45S rDNA Locus
Epigenetics, 2023 The human ribosomal DNA (rDNA) copy number (CN) has been challenging to analyse, and its sequence has been excluded from reference genomes due to its highly repetitive nature. The 45S rDNA locus encodes essential components of the cell, nevertheless rDNA displays high inter-individual CN variation that could influence human health and disease.
Aleem Razzaq +4 more
openaire +3 more sources
Bayesian nonparametric hidden Markov models with application to the analysis of copy-number-variation in mammalian genomes [PDF]
, 2009 We consider the development of Bayesian Nonparametric methods for product partition models such as Hidden Markov Models and change point models.
Yau, C. +3 more
core