Results 241 to 250 of about 1,048,276 (285)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Virus-modified paraspeckle-like condensates are hubs for viral RNA processing and their formation drives genomic instability. [PDF]

Nat Commun
Harper KL, Harrington EM, Hayward C, Anene CA, Wongwiwat W, White RE, Whitehouse A.   +6 more
europepmc   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

CRISPR-Cas9-based one-step multiplexed genome editing through optimizing guide RNA processing strategies in Pichia pastoris. [PDF]

Synth Syst Biotechnol
Chen K, Maimaitirexiati G, Zhang Q, Li Y, Liu X, Tang H, Gao X, Wang B, Yu T, Guo S.   +9 more
europepmc   +1 more source

Detection and quantitation of PPR RNA using realtime RT-PCR after maual and automated sample processing [PDF]

, 2008
Albina, Emmanuel, Keita, Djénéba, Kwiatek, Olivier, Libeau, Geneviève, Servan de Almeida, Renata   +4 more
core  

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Editorial: Plant RNA processing: discovery, mechanism and function. [PDF]

Front Plant Sci
Hao L, Chen M, Li D, Lijavetzky D.
europepmc   +1 more source

Youth Who Control HIV on Antiretroviral Therapy Display Unique Plasma Biomarkers and Cellular Transcriptome Profiles Including DNA Repair and RNA Processing. [PDF]

Cells
Borkar SA, Yin L, Venturi GM, Shen J, Chang KF, Fischer BM, Nepal U, Raplee ID, Sleasman JW, Goodenow MM.   +9 more
europepmc   +1 more source

A role for a Trypanosoma brucei cytosine RNA methyltransferase homolog in ribosomal RNA processing. [PDF]

PLoS One
Militello KT, Leigh J, Pusateri M, Read LK, Vogler D.   +4 more
europepmc   +1 more source