Low-grade inflammation as a key mediator of the pathogenesis of osteoarthritis

WH Robinson, CM Lepus, Q Wang, H Raghu… - Nature Reviews …, 2016 - nature.com
Osteoarthritis (OA) has long been viewed as a degenerative disease of cartilage, but
accumulating evidence indicates that inflammation has a critical role in its pathogenesis …

Functional profiling of the Saccharomyces cerevisiae genome

G Giaever, AM Chu, L Ni, C Connelly, L Riles… - nature, 2002 - nature.com
Determining the effect of gene deletion is a fundamental approach to understanding gene
function. Conventional genetic screens exhibit biases, and genes contributing to a …

[HTML][HTML] Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology

I Schrijver, N Aziz, DH Farkas, M Furtado… - The Journal of Molecular …, 2012 - Elsevier
This report of the Whole Genome Analysis group of the Association for Molecular Pathology
illuminates the opportunities and challenges associated with clinical diagnostic genome …

[HTML][HTML] Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians

P Bayrak-Toydemir, R Mao, S Lewin, J McDonald - Genetics in Medicine, 2004 - Elsevier
Abstract Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a
relatively common, underdiagnosed autosomal-dominant disorder of arteriovenous …

[HTML][HTML] New-onset IgG autoantibodies in hospitalized patients with COVID-19

SE Chang, A Feng, W Meng, SA Apostolidis… - Nature …, 2021 - nature.com
COVID-19 is associated with a wide range of clinical manifestations, including autoimmune
features and autoantibody production. Here we develop three protein arrays to measure IgG …

HIV/STD risk behaviors and perceptions among rural-to-urban migrants in China

X Li, X Fang, D Lin, R Mao, J Wang… - AIDS Education and …, 2004 - Guilford Press
Data from 2,153 sexually active rural-to-urban migrants in China were analyzed to examine
the relationship between the movement of rural-to-urban migration and increased HIV/STD …

[HTML][HTML] Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

V Lukacs, J Mathur, R Mao, P Bayrak-Toydemir… - Nature …, 2015 - nature.com
Piezo1 ion channels are mediators of mechanotransduction in several cell types including
the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in …

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

P Bayrak‐Toydemir, J McDonald… - American journal of …, 2006 - Wiley Online Library
Hereditary hemorrhagic telangiectasia (HHT) is a genetically and clinically heterogeneous
multisystem vascular dysplasia. Mutations of the endoglin and ACVRL1 genes are known to …

Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain

R Mao, CL Zielke, HR Zielke, J Pevsner - Genomics, 2003 - Elsevier
Down syndrome (DS) results from complete or partial triplication of human chromosome 21.
It is assumed that the neurological and other symptoms are caused by the overexpression of …

Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations

P Bayrak‐Toydemir, J McDonald… - American journal of …, 2006 - Wiley Online Library
Hereditary hemorrhagic telangiectasia (HHT) is a genetically heterogeneous vascular
dysplasia with multiple telangiectases and arteriovenous malformations and it is caused by …