Results 281 to 290 of about 674,070 (352)

Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies [PDF]

Coralea Stephanou, Stephan Menzel, Sjaak Philipsen, Petros Kountouris   +3 more
openalex   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 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

Genome-wide association study identifies quantitative trait loci associated with resistance to Verticillium dahliae race 3 in tomato. [PDF]

Plant Genome
Adhikari TB, Olukolu BA, Pandey A, Philbrick AN, Panthee DR, Shekasteband R, Gardner RG, Dean RA, Louws FJ.   +8 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

Genome-wide association study identifies <i>ABCG1</i> as a susceptibility locus for tick-borne encephalitis. [PDF]

iScience
Gampawar PG, Sagmeister MG, Růžek D, Schweintzger NA, Hofer E, Kohlmaier B, Švendová V, Bogovič P, Zajkowska JM, Krbková L, Štruncová V, Mickienė A, Kohlfürst DS, Sonnleitner A, Fořtová A, Berankova M, Pychova M, Zavadska D, Sallah N, Pichler A, Sedláček D, Chrdle A, Haudum C, Obermayer-Pietsch B, Hoffmann P, Nöthen MM, Tammesoo ML, Metspalu A, Husa P, Stiasny K, Binder A, Berghold A, Strle F, Hibberd ML, Zenz W, EU-TICK-BO study group.   +35 more
europepmc   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

TidyGWAS: a scalable approach for standardized cleaning of genome-wide association study summary statistics. [PDF]

Bioinform Adv
Harder A, Guintivano J, Pasman JA, Sullivan PF, Lu Y.   +4 more
europepmc   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source