Results 121 to 130 of about 602,244 (307)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Avatar: a value added transcriptome database [PDF]

, 2009
[[abstract]]In the past several years, the analysis of alternative splicing (AS) and its application to identify the origins of disease has been gaining momentum.Therefore, we develop a value added transcriptome database (Avatar). Starting with 5.093,682
F. R. Hsu;Hwan-You Chang;Yaw-Lin Lin;Yin-Te Tsai;Hui-Ling Peng;Ying Tsong Chen; Min Yao Shih;Che Feng Chen; and Chia-Hung Liu
core  

Transcriptome analysis of thermogenic Arum concinnatum reveals the molecular components of floral scent production [PDF]

, 2021
Several plant species can generate enough heat to increase their internal floral temperature above ambient temperature. Among thermogenic plants, Arum concinnatum shows the highest respiration activity during thermogenesis.
MOCHIDA, Keiichi, UMEKAWA, Yui, ITO, Kikukatsu, Pirintsos, Stergios Arg, SHINOZAKI, Kazuo, ONDA, Yoshihiko, SAKURAI, Tetsuya, SEYMOUR, Roger S., YOSHIDA, Takuhiro   +8 more
core  

Drosophila Piwi distinguishes transposons from mRNAs by piRNA complementarity and abundance

Cell Reports
Summary: Piwi-interacting RNAs (piRNAs) are the main repressors of transposable elements (TEs) in animal germlines. In Drosophila, Piwi-piRNA complexes associate with nascent TE transcripts to drive heterochromatin formation and TE repression.
Masaru Ariura, Therese Solberg, Hirotsugu Ishizu, Hazuki Takahashi, Piero Carninci, Haruhiko Siomi, Yuka W. Iwasaki   +6 more
doaj   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

transcriptome-and-genome-assembly: transcriptome-and-genome-assembly Version 1.0.0

, 2015
<p><a href="url"></a></p> <p>Scripts to assemble de novo transcriptomes and genomes.</p> <a class="anchor" href="#pipelines-with-sample-data-sets"><span class="octicon octicon-link"></span></a ...
Jennifer Shelton
core   +1 more source

Intracerebral Hemorrhage Induces Monocyte TNF Signaling in Patients That Is Suppressed by BAF312

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Intracerebral hemorrhage (ICH) causes high morbidity and mortality, with neurotoxic inflammation driven by infiltrating monocytes. This study is an in‐depth longitudinal examination of the immune response during the first week of ICH in the presence and absence of the immunomodulatory drug BAF312 (Siponimod).
Jonathan Howard DeLong, Sebastian Díaz‐Pérez, Kevin Navin Sheth, Jang‐Ho Cha, C. J. Malanga, Patricia G. M. Wagner, Nicole Pezous, Aurelie Hanin, Kyle B. Walsh, H. E. Hinson, Lauren Hachmann Sansing   +10 more
wiley   +1 more source

MiMICS incorporated four unique spatial-transcriptome-guided PA14 metabolic model states.

(A) Heatmap of experimental gene expression values of each PA14 metabolic model state. (B) Heatmap of predicted flux values of gene-encoded reactions for each PA14 metabolic model state.
Mohammad Mazharul Islam (1819852), Tracy J. Kuper (18452180), Shayn M. Peirce-Cottler (12254549), Jason A. Papin (8721624), Roseanne M Ford (18452183)   +4 more
core   +1 more source

A Brassica exon array for whole-transcript gene expression profiling [PDF]

, 2010
Affymetrix GeneChip® arrays are used widely to study transcriptional changes in response to developmental and environmental stimuli. GeneChip® arrays comprise multiple 25-mer oligonucleotide probes per gene and retain certain advantages over direct ...
King Graham J., Broadley, MR, May Sean T., John P. Hammond, Bowen, H. C., Bowen, HC, Hammond, J. P., Lochlainn, Seosamh O., Neil S Graham, Philip J White, Graham J. King, Broadley, Martin R., Ó Lochlainn Seosamh, May, ST, Hammond, John P., Graham, NS, Love Christopher G., Christopher G Love, Helen C. Bowen, Graham, N. S., Sean T. May, Philip J. White, Christopher G. Love, Graham, Neil S., O Lochlainn, S., Hammond John P., White, PJ, Graham J King, Ó Lochlainn, Seosamh, May, S. T., Hammond, JP, Love, Christopher G., Love, CG, Helen C Bowen, John P Hammond, Seosamh O Lochlainn, King, GJ, King, G. J., King, Graham J., Broadley, M. R., Broadley Martin R., May, Sean T., Bowen Helen C., Martin R. Broadley, Sean T May, Martin R Broadley, White, P. J., King , Graham J., Love, C. G., Neil S. Graham, White Philip J., White, Philip J., Graham Neil S., Lochlainn, SO, Bowen, Helen C.   +54 more
core   +1 more source

Systematic evaluation of single-cell multimodal data integration enhances cell type resolution and discovery of clinically relevant states in complex tissues

Genome Biology
Background The integration of multimodal single-cell data enables comprehensive organ reference atlases, yet its impact remains largely unexplored, particularly in complex tissues.
Mario Acera-Mateos, Xian Adiconis, Jessica-Kanglin Li, Domenica Marchese, Ginevra Caratù, Chung-Chau Hon, Prabha Tiwari, Miki Kojima, Beate Vieth, Michael A. Murphy, Sean K. Simmons, Thomas Lefevre, Irene Claes, Christopher L. O’Connor, Rajasree Menon, Edgar A. Otto, Yoshinari Ando, Katy Vandereyken, Matthias Kretzler, Markus Bitzer, Ernest Fraenkel, Thierry Voet, Wolfgang Enard, Piero Carninci, Holger Heyn, Joshua Z. Levin, Elisabetta Mereu   +26 more
doaj   +1 more source