Results 201 to 210 of about 2,679,408 (299)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

The effects of nicotine exposure on depression: An integrative analysis combining network toxicology, molecular docking, and Mendelian randomization. [PDF]

Tob Induc Dis
Li D, Huang Y, Zhou T, Wang Z, Ren C.
europepmc   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Expanding vaginal microbiome pangenomes via a custom MIDAS database reveals <i>Lactobacillus crispatus</i> accessory genes associated with cervical dysplasia. [PDF]

mSystems
Dubin CA, Zhao C, Pollard KS, Oskotsky T, Golob JL, Sirota M.   +5 more
europepmc   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Bridging genetic knowledge gaps in a biodiversity hotspot through conservation training. [PDF]

Bioscience
Enguídanos García A, Cuesta-Porta V, Abrego L J, Almanza M, Alvelo Villegas KZ, Antaneda H J, Bonner L, Carpintero OJ, Collado GN, Córdoba González D, Díaz Vergara M, Guerra-Lima ZI, Noriega JD, de León Herrera DS, Domingo AI, Durán O, Garrido-Trujillo A, González Y, Justo Riverol SC, Guerrero Romero A, León Correoso N, Molina LEP, Montalvo E, Pérez-González CM, Rivera M, Vásquez Acosta JL, Vásquez M, Vega-Atencio A, Zhuo W, Galià-Camps C.   +29 more
europepmc   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Genotype and Cardiac Rhabdomyoma Phenotype Analyses in Tuberous Sclerosis Complex Diseases. [PDF]

Int J Genomics
Chen X, Yao R, Sheng W, Li J, Chen Y, Fu L, Bei F.   +6 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Leveraging Large and Diverse Biobanks to Evaluate Gene-Disease Associations in Hypertrophic Cardiomyopathy. [PDF]

J Pers Med
Dababneh SF, Ong K, Yeung D, Hawkins NM, Krahn A, Laksman Z, Tadros R, Roston TM.   +7 more
europepmc   +1 more source