Results 181 to 190 of about 7,946,195 (290)

Diagnostic yield of long-read sequencing for rare diseases: a systematic review. [PDF]

Front Genet
Ibrahim AA, Fakhro KA, Abdallah AM.
europepmc   +1 more source

Baseline Neuroinflammation Stratifies TSPO‐PET Response to Disease‐Modifying Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate which baseline clinical and imaging characteristics best predict TSPO‐PET‐measurable reduction in glial activation following treatment of multiple sclerosis (MS), to utilize this information for designing more efficient biomarker‐based clinical trials targeting glial activation.
Marlene T. Morch, Markus Matilainen, Giulia N. Baldrighi, Marjo Nylund, Maija Saraste, Laura Airas   +5 more
wiley   +1 more source

Utilizing short-read, long-read and single-cell RNA sequencing for isoform discovery and detection

Alternative splicing is an essential cellular mechanism in humans that enables increased protein diversity and tissue differentiation. Thus, the study of alternative splicing is of great importance in our endeavour to address a variety of human diseases ...
Orabi, Baraa
core   +1 more source

Long-read sequencing reveals SVA insertion in AP3B1 causing Hermansky-Pudlak syndrome 2. [PDF]

Pediatr Allergy Immunol
Baba N, Baba N, Elashy A, Wegehaupt O, Zieger B, Felek M, Ferro M, Gilmour K, Fischer U, Borkhardt A, Ehl S, Koppstein D, Ghosh S.   +12 more
europepmc   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Identification of the Novel HLA-A*02:04:03 Allele by Long-Read Sequencing Following a Short-Read Phasing Failure. [PDF]

HLA
Nørgaard M, Koefoed-Nielsen P.
europepmc   +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

Simulation for long read sequencers

, 2022
openaire   +1 more source

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure. [PDF]

Bioinformatics
Lascelles C, Raynor M, Crinnion LA, Rose AMS, Diggle CP, Poulter JA, Watson CM, Carr IM.   +7 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source