Search Results - "Capra, A."
-
1
DNA Replication through G-Quadruplex Motifs Is Promoted by the Saccharomyces cerevisiae Pif1 DNA Helicase
Published in Cell (27-05-2011)“…G-quadruplex (G4) DNA structures are extremely stable four-stranded secondary structures held together by noncanonical G-G base pairs. Genome-wide chromatin…”
Get full text
Journal Article -
2
Predicting functionally important residues from sequence conservation
Published in Bioinformatics (01-08-2007)“…Motivation: All residues in a protein are not equally important. Some are essential for the proper structure and function of the protein, whereas others can be…”
Get full text
Journal Article -
3
Folding and Misfolding of Human Membrane Proteins in Health and Disease: From Single Molecules to Cellular Proteostasis
Published in Chemical reviews (08-05-2019)“…Advances over the past 25 years have revealed much about how the structural properties of membranes and associated proteins are linked to the thermodynamics…”
Get full text
Journal Article -
4
Dynamic and Coordinated Epigenetic Regulation of Developmental Transitions in the Cardiac Lineage
Published in Cell (28-09-2012)“…Heart development is exquisitely sensitive to the precise temporal regulation of thousands of genes that govern developmental decisions during differentiation…”
Get full text
Journal Article -
5
Quantifying the contribution of Neanderthal introgression to the heritability of complex traits
Published in Nature communications (22-07-2021)“…Eurasians have ~2% Neanderthal ancestry, but we lack a comprehensive understanding of the genome-wide influence of Neanderthal introgression on modern human…”
Get full text
Journal Article -
6
Predicting changes in protein thermodynamic stability upon point mutation with deep 3D convolutional neural networks
Published in PLoS computational biology (30-11-2020)“…Predicting mutation-induced changes in protein thermodynamic stability (ΔΔG) is of great interest in protein engineering, variant interpretation, and protein…”
Get full text
Journal Article -
7
Learning and interpreting the gene regulatory grammar in a deep learning framework
Published in PLoS computational biology (01-11-2020)“…Deep neural networks (DNNs) have achieved state-of-the-art performance in identifying gene regulatory sequences, but they have provided limited insight into…”
Get full text
Journal Article -
8
Prediction of gene regulatory enhancers across species reveals evolutionarily conserved sequence properties
Published in PLoS computational biology (01-10-2018)“…Genomic regions with gene regulatory enhancer activity turnover rapidly across mammals. In contrast, gene expression patterns and transcription factor binding…”
Get full text
Journal Article -
9
The 3D mutational constraint on amino acid sites in the human proteome
Published in Nature communications (07-06-2022)“…Quantification of the tolerance of protein sites to genetic variation has become a cornerstone of variant interpretation. We hypothesize that the constraint on…”
Get full text
Journal Article -
10
Genome-wide enhancer annotations differ significantly in genomic distribution, evolution, and function
Published in BMC genomics (20-06-2019)“…Non-coding gene regulatory enhancers are essential to transcription in mammalian cells. As a result, a large variety of experimental and computational…”
Get full text
Journal Article -
11
High-Throughput Reclassification of SCN5A Variants
Published in American journal of human genetics (02-07-2020)“…Partial or complete loss-of-function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada syndrome (BrS1). However, the…”
Get full text
Journal Article -
12
The phenotypic legacy of admixture between modern humans and Neandertals
Published in Science (American Association for the Advancement of Science) (12-02-2016)“…Many modern human genomes retain DNA inherited from interbreeding with archaic hominins, such as Neandertals, yet the influence of this admixture on human…”
Get full text
Journal Article -
13
Many human accelerated regions are developmental enhancers
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (19-12-2013)“…The genetic changes underlying the dramatic differences in form and function between humans and other primates are largely unknown, although it is clear that…”
Get full text
Journal Article -
14
Lifetime of magnetically trapped antihydrogen in ALPHA
Published in Hyperfine interactions (2019)“…How long antihydrogen atoms linger in the ALPHA magnetic trap is an important characteristic of the ALPHA apparatus. The initial trapping experiments in 2010…”
Get full text
Journal Article -
15
Acetylation of RNA Polymerase II Regulates Growth-Factor-Induced Gene Transcription in Mammalian Cells
Published in Molecular cell (07-11-2013)“…Lysine acetylation regulates transcription by targeting histones and nonhistone proteins. Here we report that the central regulator of transcription, RNA…”
Get full text
Journal Article -
16
G-quadruplex DNA sequences are evolutionarily conserved and associated with distinct genomic features in Saccharomyces cerevisiae
Published in PLoS computational biology (01-07-2010)“…G-quadruplex DNA is a four-stranded DNA structure formed by non-Watson-Crick base pairing between stacked sets of four guanines. Many possible functions have…”
Get full text
Journal Article -
17
Mosaic patterns of selection in genomic regions associated with diverse human traits
Published in PLoS genetics (07-11-2022)“…Natural selection shapes the genetic architecture of many human traits. However, the prevalence of different modes of selection on genomic regions associated…”
Get full text
Journal Article -
18
Integrating diverse datasets improves developmental enhancer prediction
Published in PLoS computational biology (01-06-2014)“…Gene-regulatory enhancers have been identified using various approaches, including evolutionary conservation, regulatory protein binding, chromatin…”
Get full text
Journal Article -
19
Recycling of poor quality urban wastewater by drip irrigation systems
Published in Journal of cleaner production (01-01-2007)“…Drip irrigation, combined with wastewater reuse, may offer the most effective and efficient way to cope with water shortage for crops and protect the…”
Get full text
Journal Article -
20
Machine Learning Prediction of Kidney Stone Composition Using Electronic Health Record-Derived Features
Published in Journal of endourology (01-02-2022)“…To assess the accuracy of machine learning models in predicting kidney stone composition using variables extracted from the electronic health record (EHR). We…”
Get more information
Journal Article