Results 101 to 110 of about 379,249 (335)
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 +3 more
wiley +1 more source
GeneLink: a database to facilitate genetic studies of complex traits [PDF]
, 2004 BACKGROUND: In contrast to gene-mapping studies of simple Mendelian disorders, genetic analyses of complex traits are far more challenging, and high quality data management systems are often critical to the success of these projects.
Bailey-Wilson, Joan E +13 more
core +2 more sources
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 +13 more
wiley +1 more source
CNV and nervous system diseases - what's new? [PDF]
, 2008 Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core +3 more sources
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 +12 more
wiley +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 +5 more
wiley +1 more source
Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation
Neural Plasticity, 2012 The development of genetic technologies has led to the identification of several copy number variations (CNVs) in the human genome. Genome rearrangements affect dosage-sensitive gene expression in normal brain development.
Jun Nomura, Toru Takumi
doaj +1 more source
Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function
Endocrine Connections, 2017 Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella +6 more
doaj +1 more source
De novo appearance of the ph-1 chromosome in a previously monosomic bone marrow (45,XX,-6): conversion of a myeloproliferative disorder to acute myelogenous leukemia [PDF]
, 1975 G Kohn, N Manny, A Eldor, MM Cohen
openalex +1 more source
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 +10 more
wiley +1 more source