Results 81 to 90 of about 5,783,756 (283)

Human ACVR1C missense variants that correlate with altered body fat distribution produce metabolic alterations of graded severity in knock-in mutant mice

Molecular Metabolism
Background & aims: Genome-wide studies have identified three missense variants in the human gene ACVR1C, encoding the TGF-β superfamily receptor ALK7, that correlate with altered waist-to-hip ratio adjusted for body mass index (WHR/BMI), a measure of
Pawanrat Tangseefa, Hong Jin, Houyu Zhang, Meng Xie, Carlos F. Ibáñez   +4 more
doaj   +1 more source

Germline contamination and leakage in whole genome somatic single nucleotide variant detection

BMC Bioinformatics, 2018
Background The clinical sequencing of cancer genomes to personalize therapy is becoming routine across the world. However, concerns over patient re-identification from these data lead to questions about how tightly access should be controlled.
Dorota H. Sendorek, Cristian Caloian, Kyle Ellrott, J. Christopher Bare, Takafumi N. Yamaguchi, Adam D. Ewing, Kathleen E. Houlahan, Thea C. Norman, Adam A. Margolin, Joshua M. Stuart, Paul C. Boutros   +10 more
doaj   +1 more source

GLM-based optimization of NGS data analysis: A case study of Roche 454, Ion Torrent PGM and Illumina NextSeq sequencing data. [PDF]

PLoS ONE, 2017
BACKGROUND:There are various next-generation sequencing techniques, all of them striving to replace Sanger sequencing as the gold standard. However, false positive calls of single nucleotide variants and especially indels are a widely known problem of ...
Sarah Sandmann, Aniek O de Graaf, Bert A van der Reijden, Joop H Jansen, Martin Dugas   +4 more
doaj   +1 more source

L‐aspartate oxidase provides new insights into fumarate reduction in anaerobic darkness in Synechocystis sp. PCC6803

FEBS Letters, EarlyView.
Synechocystis strains deficient in succinate dehydrogenase (SDH) secrete more succinate than the WT under dark anaerobic conditions, supporting that SDH then primarily acts as SDH, not as a fumarate reductase. L‐aspartate oxidase (Laspo) from Synechocystis is functional under anaerobic conditions, reducing fumarate to succinate.
Kateryna Kukil, Jeffrey A. Hawkes, Cecilia Blikstad, Pia Lindberg   +3 more
wiley   +1 more source

The PRALINE database: Protein and Rna humAn singLe nucleotIde variaNts in condEnsates

Bioinformatics, 2022
ABSTRACT Summary Biological condensates are membraneless organelles with different material properties. Proteins and RNAs are the main components, but most of their interactions are still unknown. Here we introduce PRALINE, a database for the interrogation of proteins and RNAs contained in stress ...
Andrea Vandelli, Magdalena Arnal Segura, Michele Monti, Jonathan Fiorentino, Laura Broglia, Alessio Colantoni, Natalia Sanchez de Groot, Marc Torrent Burgas, Alexandros Armaos, Gian Gaetano Tartaglia   +9 more
openaire   +3 more sources

Best Practices for Evaluating Single Nucleotide Variant Calling Methods for Microbial Genomics

Frontiers in Genetics, 2015
Innovations in sequencing technologies have allowed biologists to make incredible advances in understanding biological systems. As experience grows, researchers increasingly recognize that analyzing the wealth of data provided by these new sequencing ...
Nathan eOlson, Steven P. Lund, Rebecca E. Colman, Jeffrey T Foster, Jason W Sahl, James M Schupp, Paul eKeim, Paul eKeim, Jayne B Morrow, Marc L Salit, Marc L Salit, Justin M Zook   +11 more
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Collective judgment predicts disease-associated single nucleotide variants [PDF]

BMC Genomics, 2013
In recent years the number of human genetic variants deposited into the publicly available databases has been increasing exponentially. The latest version of dbSNP, for example, contains ~50 million validated Single Nucleotide Variants (SNVs). SNVs make up most of human variation and are often the primary causes of disease.
CAPRIOTTI, EMIDIO, Altman, Russ B, BROMBERG, YANA   +2 more
openaire   +3 more sources

A context‐dependent modulatory role for eIF6 in acquired resistance to vemurafenib in melanoma

FEBS Letters, EarlyView.
Acquired resistance to vemurafenib upregulates the translation factor eIF6 in melanoma cells. Silencing eIF6 in resistant cells reduces proliferation and partially restores drug sensitivity, whereas its overexpression increases sensitivity across melanoma lines regardless of BRAF status, via modulation of mTOR, S6K, and MAPK signaling.
George Kyriakopoulos, Antonia Petropoulou, Alexandra Anastogianni, Angelina Bania, Vassilis Stamatakis, Argyris Alexiou, Chi‐Ping Day, Glenn Merlino, Katerina Grafanaki, Constantinos Stathopoulos   +9 more
wiley   +1 more source

From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS.

The Journal of biological chemistry, 2016
Understanding the role of genetics in disease has become a central part of medical research. Non-synonymous single nucleotide variants (nsSNVs) in coding regions of human genes frequently lead to pathological phenotypes. Beyond single variations, the individual combination of nsSNVs may add to pathogenic processes. We developed a multiscale pipeline to
Mueller, Sabine C., Sommer, Björn, Backes, Christina, Haas, Jan, Meder, Benjamin, Meese, Eckart, Keller, Andreas   +6 more
openaire   +2 more sources