Results 211 to 220 of about 2,821,158 (289)

Get ready for short tandem repeats analysis using long reads-the challenges and the state of the art. [PDF]

Front Genet
Chaushevska M, Alapont-Celaya K, Schack AK, Krych L, Garrido Navas MC, Krithara A, Madjarov G.   +6 more
europepmc   +1 more source

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan, María A. Piedrabuena, María A. Zarate, Sofía Rodríguez Murúa, Ezequiel I. Surace, Mauricio F. Farez, Marcela P. Fiol, María C. Ysrraelit, Jorge Correale   +8 more
wiley   +1 more source

Biomonitoring 2.0 Refined: observing local change through metaphylogeography using a community-based eDNA metabarcoding monitoring network. [PDF]

BMC Biol
Riley AC, Wright M, Porter TM, Maitland VC, Baird DJ, Hajibabaei M.   +5 more
europepmc   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

The complete mitochondrial genome of <i>Symplocos tanakana</i>. [PDF]

Mitochondrial DNA B Resour
Cao J, Wang B, Gan Y, Wu C, Cheng B.
europepmc   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Draft genome sequence of an antibiotic-resistant <i>Heyndrickxia oleronia</i> strain UL23-01-03 isolated from the Arabian Sea coast, Dakshina Kannada, India. [PDF]

Microbiol Resour Announc
N S S, Maske VB, Punchappady Devasya R, Rekadwad BN.   +3 more
europepmc   +1 more source

Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang, Haiting Li, Xiaoping Du, Qiong Wang, Yating Zhang, Huifang Wang   +5 more
wiley   +1 more source

Relaxed DNA substrate specificity of transposases involved in programmed genome rearrangement. [PDF]

Nucleic Acids Res
Walker MWG, Akematsu T, Aslan E, Villano DJ, Fried HS, Lan H, Sternberg SH, Landweber LF.   +7 more
europepmc   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

Advanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe, Samantha Kaonis, Natalie Calahan, Neda Kabi, Soham Ghosh   +4 more
wiley   +1 more source