Results 211 to 220 of about 254,836 (309)

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

A Comparative Study on Copy Number Variation in Subtypes of Breast Phyllodes Tumors. [PDF]

Breast Cancer (Auckl)
Liu Y, Zhang M, Huang H, Ren H, Li H, Wang C.   +5 more
europepmc   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Comparative study of tools for copy number variation detection using next-generation sequencing data. [PDF]

Sci Rep
Du R, Dong J, Jiang H, Qi M, Zhao Z.
europepmc   +1 more source

CN-SBM: Categorical Block Modelling For Primary and Residual Copy Number Variation [PDF]

Kevin Lam, William Daniels, J. Maxwell Douglas, Daniel Lai, Samuel Aparício, Benjamin Bloem-Reddy, Yong‐Jin Park   +6 more
openalex   +1 more source

Higher Amyloid and Tau Burden Is Associated With Faster Decline on a Digital Cognitive Test

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A 2‐min digital clock‐drawing test (DCTclock) captures more granular features of the clock‐drawing process than the pencil‐and‐paper clock‐drawing test, revealing more subtle deficits at the preclinical stage of Alzheimer's disease (AD). A previous cross‐sectional study demonstrated that worse DCTclock performance was associated with
Jessie Fanglu Fu, Talia Robinson, Marina Rodriguez Alonso, Adela Francis Malave, Roos J. Jutten, Michael J. Properzi, Brian C. Healy, Jackson C. Thompson, Grace Del Carmen Montenegro, Emma Thibault, Dana Penney, Randall Davis, Reisa A. Sperling, Kathryn V. Papp, Keith A. Johnson, Julie C. Price, Dorene M. Rentz   +16 more
wiley   +1 more source

Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes. [PDF]

Nat Genet
Ma W, Chaisson MJP.
europepmc   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

FT-like genes in Cannabis and hops: sex specific expression and copy-number variation may explain flowering time variation. [PDF]

BMC Genomics
Dowling CA, Michael TP, McCabe PF, Schilling S, Melzer R.   +4 more
europepmc   +1 more source

A computational pipeline for identifying copy number variation from single nucleotide polymorphism data and applications to congenital heart disease

, 2016
Daniel Seung Kim
openalex   +1 more source