Results 71 to 80 of about 6,900,738 (371)

Differential analyses for RNA-seq: transcript-level estimates improve gene-level inferences

F1000Research, 2015
High-throughput sequencing of cDNA (RNA-seq) is used extensively to characterize the transcriptome of cells. Many transcriptomic studies aim at comparing either abundance levels or the transcriptome composition between given conditions, and as a first ...
C. Soneson, M. Love, M. Robinson
semanticscholar   +1 more source

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement [PDF]

, 2019
Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease.
Bonnen, Penelope E, Carbo, Miriam, Cerbelli, Bruna, D'Amati, Giulia, Della Monica, Paola Lilla, Falkous, Gavin, Giordano, Carla, Glasgow, Ruth I C, Hardy, Steven A, He, Langping, Morea, Veronica, Perli, Elena, Pignataro, Maria Gemma, Pisano, Annalinda, Re, Federica, Taylor, Robert W, Zacara, Elisabetta   +16 more
core   +2 more sources

Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley   +1 more source

Detection of Panton-valentine Leukocidin Gene Isoforms of Staphylococcus aureus Isolates in Al-Zahra Hospital, Isfahan-Iran

Advanced Biomedical Research, 2017
Background: Panton-Valentine leukocidin (PVL) is a gamma-toxin produced by Staphylococcus aureus encoded by genes lukS/lukF-PV with several single-nucleotide polymorphisms. A mutation at nucleotide position 527 results in substitution of histidine (H) to
Seyed Asghar Havaei, Farkhondeh Poursina, Maryam Ahmadpour, Seyed Roholla Havaei, Meisam Ruzbahani   +4 more
doaj   +1 more source

Identification of a Novel C-Terminal Truncated WT1 Isoform with Antagonistic Effects against Major WT1 Isoforms. [PDF]

PLoS ONE, 2015
The Wilms' tumor gene WT1 consists of 10 exons and encodes a zinc finger transcription factor. There are four major WT1 isoforms resulting from alternative splicing at two sites, exon 5 (17AA) and exon 9 (KTS). All major WT1 isoforms are overexpressed in
Naoya Tatsumi, Nozomi Hojo, Hiroyuki Sakamoto, Rena Inaba, Nahoko Moriguchi, Keiko Matsuno, Mari Fukuda, Akihide Matsumura, Seiji Hayashi, Soyoko Morimoto, Jun Nakata, Fumihiro Fujiki, Sumiyuki Nishida, Hiroko Nakajima, Akihiro Tsuboi, Yoshihiro Oka, Naoki Hosen, Haruo Sugiyama, Yusuke Oji   +18 more
doaj   +1 more source

Making tau amyloid models in vitro: a crucial and underestimated challenge

FEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

ABCA1 haplodeficiency affects the brain transcriptome following traumatic brain injury in mice expressing human APOE isoforms

Acta Neuropathologica Communications, 2018
Expression of human Apolipoprotein E (APOE) modulates the inflammatory response in an isoform specific manner, with APOE4 isoform eliciting a stronger pro-inflammatory response, suggesting a possible mechanism for worse outcome following traumatic brain ...
Emilie L. Castranio, Cody M. Wolfe, Kyong Nyon Nam, Florent Letronne, Nicholas F. Fitz, Iliya Lefterov, Radosveta Koldamova   +6 more
doaj   +1 more source

The Landscape of Isoform Switches in Human Cancers

Molecular Cancer Research, 2017
Alternative usage of transcript isoforms from the same gene has been hypothesized as an important feature in cancers. However, differential usage of gene transcripts between conditions (isoform switching) has not been comprehensively characterized in and
Kristoffer Vitting-Seerup, A. Sandelin
semanticscholar   +1 more source

Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation

FEBS Letters, EarlyView.
The β‐actin G74S mutation causes altered interaction of actin with SETD3, reducing histidine‐73 methylation efficiency and forming two distinct actin variants. The variable ratio of these variants across cell types and developmental stages contributes to tissue‐specific phenotypical changes. This imbalance may impair actin dynamics and mechanosensitive
Anja Marquardt, Marcus S. Münchhoff, Jacqueline Krohn, Philip M. Palarz, Manuel H. Taft, Johannes N. Greve, Nataliya Di Donato, Falk F. R. Buettner, Dietmar J. Manstein   +8 more
wiley   +1 more source

A survey of the complex transcriptome from the highly polyploid sugarcane genome using full-length isoform sequencing and de novo assembly from short read sequencing

BMC Genomics, 2017
BackgroundDespite the economic importance of sugarcane in sugar and bioenergy production, there is not yet a reference genome available. Most of the sugarcane transcriptomic studies have been based on Saccharum officinarum gene indices (SoGI), expressed ...
Nam V. Hoang, A. Furtado, P. Mason, Annelie Marquardt, Lakshmi Kasirajan, P. Thirugnanasambandam, F. Botha, R. Henry   +7 more
semanticscholar   +1 more source