Results 111 to 120 of about 1,163,263 (310)

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Chromosome Number of Sium Suave [PDF]

, 1970
Author Institution: Department of Biological Sciences, Kent State University, Kent, Ohio ...
Brockett, Bruce L.
core  

Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. [PDF]

, 2020
A significant number of X-linked genes escape from X chromosome inactivation and are associated with a distinct epigenetic signature. One epigenetic modification that strongly correlates with X-escape is reduced DNA methylation in promoter regions. Here,
Anderson, Johnathon D, Buchanan, Fiona KB, Cameron, David, Carter, Jasmine L, Coggins, Nicole B, Deng, Peter, Fink, Kyle D, Gonzalez, Casiana E, Halmai, Julian ANM, Halmai, Julian ANM, Lock, Samantha R, Nolta, Jan, O'Geen, Henriette, Segal, David J, Waldo, Jennifer J   +14 more
core   +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

Genome size, chromosome number, and rDNA organisation in Algerian populations of Artemisia herba-alba (Asteraceae), a basic plant for animal feeding facing overgrazing erosion

Anales del Jardín Botánico de Madrid, 2016
Artemisia herba-alba is a largely-distributed and often landscape-dominating taxon in arid areas of the Mediterranean and Irano-Turanian regions. In Algeria, in 2010 its communities covered 10% of the steppe territory, but its populations have been ...
Youcef Bougoutaia, Sònia Garcia, Teresa Garnatje, Meriem Kaid-Harche, Joan Vallès   +4 more
doaj   +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

Chromosome studies in Orchidaceae from Argentina

Genetics and Molecular Biology, 2009
The center of diversity of Argentinean orchids is in the northeast region of the country. Chromosome numbers and karyotype features of 43 species belonging to 28 genera are presented here.
Julio Rubén Daviña, Mauro Grabiele, Juan Carlos Cerutti, Diego Hernán Hojsgaard, Rubén Dario Almada, Irma Stella Insaurralde, Ana Isabel Honfi   +6 more
doaj  

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

Ancestral inference from haplotypes and mutations

, 2018
We consider inference about the history of a sample of DNA sequences, conditional upon the haplotype counts and the number of segregating sites observed at the present time.
Griffiths, Robert C., Tavaré, Simon
core   +1 more source