Results 261 to 270 of about 2,026,261 (344)

Practice Recommendations for Genetic Testing of Ataxias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +1 more source

Ribosomal DNA arrays are the most H-DNA rich element in the human genome. [PDF]

NAR Genom Bioinform
Chantzi N, Chan CSY, Patsakis M, Nayak A, Montgomery A, Mouratidis I, Georgakopoulos-Soares I.   +6 more
europepmc   +1 more source

Single‐Cell RNA Seq in Sydenham Chorea Shows B Cell HLA‐DR/DQ Upregulation and Plasma Cell Proteasomal Activation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han, Brooke A. Keating, Brian S. Gloss, Xianzhong Lau, Ruwani Dissanayake, Hiroya Nishida, Jessica Hayes, Shrujna Patel, Shekeeb S. Mohammad, Russell C. Dale   +9 more
wiley   +1 more source

Variation in the Content of Three Tandem Repeats of the Human Genome (Ribosomal, Satellite III, and Telomere) in Peripheral Blood Leukocyte DNA of People of Different Ages (5-101 Years). [PDF]

J Aging Res
Ershova ES, Umriukhin PE, Zinchenko RA, Vasilieva TP, Kostyuk SE, Shabalin NY, Salimova TA, Malinovskaya EM, Veiko NN, Kostyuk SV.   +9 more
europepmc   +1 more source

Exploring Nasal Structural‐Microbial Interactions in Multiple Sclerosis‐Associated Olfactory Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Olfactory dysfunction is frequently observed in patients with multiple sclerosis (MS); however, its underlying mechanisms remain poorly understood. To date, no studies have directly examined the nasal mucosal microbiota in MS. This study aimed to explore potential relationships among olfactory function, nasal microbiota composition,
Zidan Gao, Zhuoma Danzhen, Yao Li, Junyu Zhu, Lan Chu, Zhang Yang   +5 more
wiley   +1 more source

WHO guidance for human genome data collection, access, use and sharing: why granularity maximisation in informed consent should be reconsidered. [PDF]

BMJ Glob Health
Thaldar D, Edgcumbe A.
europepmc   +1 more source

CSF Mitochondrial DNA: Biomarker of Body Composition and Energy Metabolism in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebrospinal fluid (CSF) cell‐free mitochondrial DNA (cf‐mtDNA) is a potential biomarker for Parkinson's disease (PD), but its clinical relevance remains unclear. We investigated associations between CSF cf‐mtDNA levels, body composition, nutritional status, and metabolic biomarkers in PD. Methods CSF cf‐mtDNA levels, defined as the
Yasuaki Mizutani, Tsuyoshi Nakai, Yasuhiro Maeda, Reiko Ohdake, Atsuhiro Higashi, Toshiki Maeda, Ryunosuke Nagao, Sayuri Shima, Kazuya Kawabata, Akihiro Ueda, Mizuki Ito, Hirohisa Watanabe   +11 more
wiley   +1 more source

Identifying somatic driver mutations in cancer with a language model of the human genome. [PDF]

Comput Struct Biotechnol J
Zeng G, Zhao C, Li G, Huang Z, Zhuang J, Liang X, Yu X, Fang S.   +7 more
europepmc   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Ethical Aspects of Human Genome Research in Sports-A Narrative Review. [PDF]

Genes (Basel)
Bojarczuk A.
europepmc   +1 more source