Results 91 to 100 of about 129,882 (243)

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

Comparative Bioinformatic Analysis of the Proteomes of Rabbit and Human Sex Chromosomes

Animals
Studying proteins associated with sex chromosomes can provide insights into sex-specific proteins. Membrane proteins accessible through the cell surface may serve as excellent targets for diagnostic, therapeutic, or even technological purposes, such as ...
Patrícia Pinto-Pinho, João Soares, Pedro Esteves, Rosário Pinto-Leite, Margarida Fardilha, Bruno Colaço   +5 more
doaj   +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

Tracing the origin and geographic distribution of an ancestral form of the modern human Y chromosome Reconstrucción del origen y distribución geográfica de una forma ancestral del cromosoma Y del hombre moderno

Revista Chilena de Historia Natural, 2001
We screened a total of 841 Y chromosomes representing 36 human populations of wide geographical distribution for the presence of a Y-specific Alu insert (YAP+ chromosomes). The Alu element was found in 77 cases.
CLAUDIO M BRAVI, GRACIELA BAILLIET, VERÓNICA L MARTÍNEZ-MARIGNAC, NESTOR O BIANCHI   +3 more
doaj  

Y-chromosome evolution in humans

, 2015
The human Y-chromosome has increasingly reduced its size through its evolutionary history, currently being the shortest of the 23 human chromosomes. This raises questions as to whether it will continue to shorten, and if so, down to which size ? Did it already stop losing genes, or will it eventually disappear completely ?
Vázquez Mochales, Ana María, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +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

Small variant benchmark from a complete assembly of X and Y chromosomes

Nature Communications
The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions.
Justin Wagner, Nathan D. Olson, Jennifer McDaniel, Lindsay Harris, Brendan J. Pinto, David Jáspez, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, José M. Lorenzo-Salazar, Carlos Flores, Sayed Mohammad Ebrahim Sahraeian, Giuseppe Narzisi, Marta Byrska-Bishop, Uday S. Evani, Chunlin Xiao, Juniper A. Lake, Peter Fontana, Craig Greenberg, Donald Freed, Mohammed Faizal Eeman Mootor, Paul C. Boutros, Lisa Murray, Kishwar Shafin, Andrew Carroll, Fritz J. Sedlazeck, Melissa Wilson, Justin M. Zook   +26 more
doaj   +1 more source

3D Multicellular Scaffold Based Model for Advancing Bone Disorder Research

Advanced Functional Materials, EarlyView.
A scalable 3D multicellular in vitro bone model engineered by integrating osteoblasts, osteoclasts, and endothelial cells on biodegradable scaffolds. The system recapitulates key features of human bone remodeling and disease pathology. As a proof of concept, the model mimics osteogenesis imperfecta, demonstrating its potential as a physiologically ...
Gali Guterman‐Ram, Majd Machour, Janette Zavin, Roy Meretzki, Reut Lev‐Ari, Shulamit Levenberg   +5 more
wiley   +1 more source

A Smart Bio‐Battery Facilitates Diabetic Bone Defect Repair Via Inducing Macrophage Reprogramming and Synergistically Modulating Bone Remodeling Coupling

Advanced Functional Materials, EarlyView.
This research presents a novel implantable bio‐battery, GF‐OsG, tailored for diabetic bone repair. GF‐OsG generates microcurrents in high‐glucose conditions to enhance vascularization, shift macrophages to the M2 phenotype, and regulate immune responses.
Nanning Lv, Haifu Sun, Wenxiang Tang, Yonggang Li, Zhonglai Qian, Lihui Hong, Chong Chen, Hongye Li, Jiaxiang Bai, Yusen Qiao, Mingming Liu   +10 more
wiley   +1 more source

The Human Y Chromosome [PDF]

Cell, 2003
openaire   +1 more source