Results 131 to 140 of about 1,205,521 (283)

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

HUMAN GENES CONTROLLING FEEDING BEHAVIOR OR BODY MASS AND THEIR FUNCTIONAL AND GENOMIC CHARACTERISTICS: A REVIEW

Вавиловский журнал генетики и селекции, 2015
The goals of this study were to create a compilation of genes controlling human body weight and feeding behavior and to summarize functional and genomic information on these genes. Information on 424 human genes was obtained from scientific publications,
E. V. Ignatieva, D. A. Afonnikov, E. I. Rogaev, N. A. Kolchanov   +3 more
doaj  

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

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

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

Integrating Circle-Seq with transcriptomics reveals genome-wide characterization of extrachromosomal circular DNA for dilated cardiomyopathy

Biology Direct
Background Extrachromosomal circular DNAs (eccDNAs) are commonly found in various tumors and play a critical role in promoting oncogenesis. However, little is known about the characteristics and nature of eccDNAs in human heart failure.
Zhenhao Lin, Fangjie Dai, Bo Li, Yongchao Zhao, Changqian Wang   +4 more
doaj   +1 more source

Kaelin Rapport - Histological Techniques for the Sex Determination of Skeletonized Human Remains [PDF]

, 2014
Determining the sex of skeletons is problematic in forensic and bio-archaeological research. Past studies demonstrate that bone cells can sometimes contain preserved sex chromosomal material in ancient samples. The sex chromosomes in skeletal remains may
Rapport, Kaelin
core   +1 more source

Gender in cardiovascular diseases: impact on clinical manifestations, management, and outcomes.

European Heart Journal, 2016
V. Regitz-Zagrosek, S. Oertelt-Prigione, E. Prescott, F. Franconi, E. Gerdts, A. Foryst-Ludwig, A. Maas, A. Kautzky-Willer, Dorit Knappe-Wegner, U. Kintscher, K. Ladwig, K. Schenck-Gustafsson, V. Stangl   +12 more
semanticscholar   +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

Long-range organization of tandem arrays of alpha satellite DNA at the centromeres of human chromosomes: high-frequency array-length polymorphism and meiotic stability.

Proceedings of the National Academy of Sciences of the United States of America, 1989
Rachel Wevrick, Huntington F Willard
semanticscholar   +1 more source