Results 231 to 240 of about 2,011,170 (298)

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

JG2: an updated version of the Japanese population-specific reference genome. [PDF]

Hum Genome Var
Sriwichaiin S, Makino S, Funayama T, Otsuki A, Kawashima J, Okamura Y, Tadaka S, Katsuoka F, Kumada K, Tsutsumi S, Kinoshita K, Yamamoto M, Tamiya G, Takayama J.   +13 more
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

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

P192: CRISPR-mediated base editing of the Irish infantile Tay-Sachs mutation

Genetics in Medicine Open
Madison Hernandez, Cynthia Tifft
doaj   +1 more source

Mutations and Recombination at G4 DNA-Forming Sequences Exacerbated by CPT-Resistant Mutant Topoisomerase 1 Is Dependent on SUMOylation. [PDF]

Int J Mol Sci
Singh S, Zhu X, Kim N.
europepmc   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Horizontally transferred cell-free chromatin particles function as autonomous 'satellite genomes' and vehicles for transposable elements within host cells. [PDF]

Elife
Banerjee S, Shende SS, Kata L, Lopes RS, Praveen S, Joshi R, Khare NK, Raghuram GV, Shabrish S, Mittra I.   +9 more
europepmc   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Should scientists be allowed to bring distant human ancestors back to life? [PDF]

PLoS Biol
Caplan AL.
europepmc   +1 more source