Results 81 to 90 of about 517,834 (299)

This Is Not a Myeloproliferative Neoplasm…

Pediatric Blood &Cancer, EarlyView.
Stephanie Juané Kennedy
wiley   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Identification of pathogen genomic variants through an integrated pipeline [PDF]

, 2014
Background: Whole-genome sequencing represents a powerful experimental tool for pathogen research. We present methods for the analysis of small eukaryotic genomes, including a streamlined system (called Platypus) for finding single nucleotide and copy ...
Bopp, Selina ER, Bright, Andrew Taylor, Corey, Victoria C, Flannery, Erika L, Manary, Micah J, McNamara, Case W, Singhakul, Suriya S, Walker, John R, Winzeler, Elizabeth A   +8 more
core   +3 more sources

The Effect of Algorithms on Copy Number Variant Detection

PLoS ONE, 2010
The detection of copy number variants (CNVs) and the results of CNV-disease association studies rely on how CNVs are defined, and because array-based technologies can only infer CNVs, CNV-calling algorithms can produce vastly different findings. Several authors have noted the large-scale variability between CNV-detection methods, as well as the ...
Debby W Tsuang, Steven P Millard, Benjamin Ely, Peter Chi, Kenneth Wang, Wendy H Raskind, Sulgi Kim, Zoran Brkanac, Chang-En Yu   +8 more
openaire   +4 more sources

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Genomic variability in Mexican chicken population using copy number variants

BMC Genetics, 2017
Background Copy number variations are genome polymorphism that influence phenotypic variation and are an important source of genetic variation in populations.
E. Gorla, M. C. Cozzi, S. I. Román-Ponce, F. J. Ruiz López, V. E. Vega-Murillo, S. Cerolini, A. Bagnato, M. G. Strillacci   +7 more
doaj   +1 more source

Gene Copy Number Variation Does Not Reflect Structure or Environmental Selection in Two Recently Diverged California Populations of Suillus brevipes

G3: Genes, Genomes, Genetics, 2020
Gene copy number variation across individuals has been shown to track population structure and be a source of adaptive genetic variation with significant fitness impacts.
Anna L. Bazzicalupo, Mallory Thomas, Robert Mason, Munro-Ehrlich, Sara Branco   +4 more
doaj   +1 more source

isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

BMC Bioinformatics, 2021
Background Accurate copy number variant (CNV) detection is especially challenging for both targeted sequencing (TS) and whole‐exome sequencing (WES) data.
Rosa Barcelona-Cabeza, Walter Sanseverino, Riccardo Aiese Cigliano   +2 more
doaj   +1 more source