Results 281 to 290 of about 3,155,630 (345)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

A genome-wide association study reveals additive and recessive alleles affecting male fertility in pigs. [PDF]

J Anim Sci Biotechnol
Sá P, Gòdia M, Godinho RM, Sevillano CA, Harlizius B, Madsen O, Bovenhuis H.   +6 more
europepmc   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Genome-wide association study of pulpal and apical diseases. [PDF]

Nat Commun
Salminen A, Hyvärinen K, Ritari J, Leppilahti JM, Palotie U, Vuollo V, Kambur O, FinnGen, Estonian Biobank Research Team, Reis K, Reigo A, Palta P, Perola M, Sinisalo J, Havulinna AS, Mäntylä P, Gürsoy UK, Suominen AL, Rice DP, Anttonen V, Nieminen P, Pussinen PJ.   +21 more
europepmc   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Genome-wide association study of chlamydia reinfection in African American women. [PDF]

Front Immunol
Tiwari HK, Patki A, Srinivasasainagendra V, Vejandla SC, Sadeesh A, Gupta K, Appah M, Geisler WM.   +7 more
europepmc   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source

Lifecourse genome-wide association study meta-analysis refines the critical life stages for adiposity's influence on breast cancer risk. [PDF]

Sci Adv
Power GM, Bhatta L, Hughes AM, Medina-Gomez C, Richmond A, Leyden G, Lloyd-Lewis B, Sanderson E, Richmond R, Corfield EC, McCartney D, Hayward C, Fontes Marques I, Rivadeneira F, Åsvold BO, Hemani G, Felix JF, Brumpton B, Havdahl A, Davey Smith G.   +19 more
europepmc   +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 for Milk Protein Content in Romanian Dual-Purpose Cattle. [PDF]

Life (Basel)
Bratu DG, Blaga Ș, Zanfira BC, Mircu C, Spătaru II, Torda I, Mizeranschi AE, Ilie DE, Cziszter LT, Vizitiu DA, Boldura OM, Huțu I.   +11 more
europepmc   +1 more source