Results 291 to 300 of about 4,524,973 (357)

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

Comprehensive Analysis of Wild Rice Mitochondrial Genomes Reveals Structural Variation, Repeat Dynamics, and the Evolution of <i>orf182</i>. [PDF]

Plants (Basel)
Long W, Wang J, Luo L, Zhou L, Chen W, Luo L, Xu W, Li Y, Yan L, Cai Y, Xie H.   +10 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

Whole-genome sequence and functional annotation dataset of a proteolytic bacterium, <i>Deinococcus wulumuqiensis</i> FBCC-B5220. [PDF]

Data Brief
Choi A, Goh J, Hwang Y, Lee MH.
europepmc   +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

Whole genome and phylogenomic insights into Vibrio parahaemolyticus from Pacific White Shrimp reveal resistance and virulence traits in Bangladeshi aquaculture. [PDF]

PLoS One
Masum MHU, Uddin MS, Chamonara K, Sultana S, Islam S, Siddiqua A.   +5 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Whole genome sequence analysis of <i>Bifidobacterium animalis</i> subsp. <i>lactis</i> KL101 and comparative genomics with BB12. [PDF]

J Anim Sci Technol
Kim K, Lee J, Kang SJ, Oh S.
europepmc   +1 more source

Genome characteristics and type IV effector protein repertoire of Coxiella burnetii depend rather on Genomic Groups than on host species. [PDF]

BMC Microbiol
Brangsch H, Berens C, Fuchs S, Fitzgerald S, McNeilly TN, Lührmann A, Mertens-Scholz K.   +6 more
europepmc   +1 more source