Results 91 to 100 of about 2,401,068 (320)

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

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

MJL-1 is a nuclear envelope protein required for homologous chromosome pairing and regulation of synapsis during meiosis in C. elegans. [PDF]

Sci Adv, 2023
Kim HJ, Liu C, Zhang L, Dernburg AF.
europepmc   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

Advancing Research on Biomaterials and Biological Materials with Scanning Electron Microscopy under Environmental and Low Vacuum Conditions

Advanced Engineering Materials, EarlyView.
Herein, environmental scanning electron microscopy (ESEM) is discussed as a powerful extension of conventional SEM for life sciences. By combining high‐resolution imaging with variable pressure and humidity, ESEM allows the analysis of untreated biological materials, supports in situ monitoring of hydration‐driven changes, and advances the functional ...
Jendrian Riedel, Lea Dierker, Antoine Eyram Kwame, Kim Nora Wagner, Jonas J. Unterholzner, Jan‐Henning Dirks, Dorothea Brüggemann   +6 more
wiley   +1 more source

The Essential Function of SETDB1 in Homologous Chromosome Pairing and Synapsis during Meiosis. [PDF]

Cell Rep, 2021
Cheng EC, Hsieh CL, Liu N, Wang J, Zhong M, Chen T, Li E, Lin H.   +7 more
europepmc   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Limitations of stratifying sib‐pair data in common disease linkage studies: An example using chromosome 10p14‐10q11 in type 1 diabetes [PDF]

, 2002
Gillian C.L. Johnson, Bobby P. C. Koeleman, John A. Todd   +2 more
openalex   +1 more source

The transcriptional basis of chromosome pairing

Journal of Cell Science, 1997
ABSTRACT Pairing between homologous chromosomes is essential for successful meiosis; generally only paired homologs recombine and segregate correctly into haploid germ cells. Homologs also pair in some somatic cells (e.g. in diploid and polytene cells of Drosophila). How homologs find their partners is a mystery.
openaire   +3 more sources