Results 241 to 250 of about 850,713 (297)

Genome wide association study unveils the genetic basis of Orobanche crenata resistance in pea. [PDF]

Theor Appl Genet
Wohor OZ, Rispail N, Rubiales D.
europepmc   +1 more source

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

Genome-wide association study of pediatric bacteremia and sepsis

Lawless D, Hodel FA, Thorball CW, Xu ZM, Borghesi A, Giannoni E, Trück J, Stocker M, Posfay-Barbe KM, Heininger U, Bernhard-Stirnemann S, Niederer-Loher A, Kahlert CR, Natalucci G, Relly C, Berger C, Riedel T, Aebi C, Agyeman P, Fellay J, Schlapbach LJ.   +20 more
europepmc   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Genome-Wide Association Study and Candidate Gene Analysis of Seed Shattering Trait in <i>Psathyrostachys juncea</i>. [PDF]

Genes (Basel)
Lv Y, Yun L, Mu Y, Li B, Jia X, Jia M.
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

Genome-wide association study reveals genetic mechanisms underlie eye disorders and comorbidities. [PDF]

HGG Adv
Hsiung CN, Chou WC, Hsu CH, Chen L.
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

Genome-Wide Association Study of Morphological Defects in Nellore Cattle Using a Binary Trait Framework. [PDF]

Genes (Basel)
Campos MAF, Rojas de Oliveira H, Mulim HA, Oliveira EDS, Fonseca PAS, Camargo GMF, Costa RB.   +6 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