Results 51 to 60 of about 1,942 (174)

Impact of the Interaction between 3′-UTR SNPs and microRNA on the Expression of Human Xenobiotic Metabolism Enzyme and Transporter Genes [PDF]

, 2012
Genetic variation in the expression of human XMETs leads to inter-individual variability in metabolism of therapeutic agents as well as differed susceptibility to various diseases.
David A Flockhart, Fan eYang, Lang eLi, Naga eChalasani, Rongrong eWei, Thomas J. Urban, Wanqing eLiu, Wanqing eLiu   +7 more
core   +2 more sources

P752 A nationwide survey of chronic enteropathy associated with SLCO2A1 gene in Japan [PDF]

Journal of Crohn's and Colitis, 2020
Abstract Background Chronic enteropathy associated with SLCO2A1 gene (CEAS) is an autosomal recessive disease caused by mutations in the SLCO2A1 gene which encodes a prostaglandin transporter. It is a rare intractable disease characterised by persistent blood and protein loss due to the small ...
J Umeno, Y Fuyuno, T Torisu, A Hirano, M Esaki, S Yanai, N Ohmiya, T Hisamatsu, K Watanabe, N Hosoe, H Ogata, F Hirai, T Hisabe, T Matsui, T Yao, T Kitazono, T Matsumoto   +16 more
openaire   +1 more source

Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report

Frontiers in Genetics, 2022
We reported a 22-year-old Emirati male with autosomal recessive primary hypertrophic osteoarthropathy caused by a possibly pathogenic homozygous non-synonymous variant in the SLCO2A1 gene (NM_005630.3: c.289C>T, p.
Areej Albawa'neh, Mariam Ghareeb Al Mansoori, Sehriban Diab, Fatma Al Jasmi, Fatma Al Jasmi, Nadia Akawi, Nadia Akawi   +6 more
doaj   +1 more source

Human gene copy number spectra analysis in congenital heart malformations [PDF]

, 2012
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P., Broeckel, Ulrich, Goetsch, Mary A., Harris, Susan, Hidestrand, Mats, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Struble, Craig, Tomita-Mitchell, Aoy, Tuffnell, Maureen E., Tweddell, James S.   +13 more
core   +2 more sources

Clinical and molecular features of thiazide-induced hyponatremia [PDF]

, 2018
Hypertension affects more than 30% of the world’s adult population and thiazide (and thiazide-like) diuretics are amongst the most widely used, effective and least costly treatments available, with all-cause mortality benefits equivalent to ACE ...
Channavajjhala, Sarath K., Clayton, Jenny, Glover, Mark, Hall, Ian P., Jia, Wenjing, Nadal, Jodie   +5 more
core   +2 more sources

Pachydermoperiostosis: a case report

Остеопороз и остеопатии, 2017
Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually ...
Valentina A. Fursenko, Tatiana A. Grebennikova, Alexey G. Nikitin, Zhanna E. Belaya   +3 more
doaj   +1 more source

Cranberry Proanthocyanidins Mitigate Reflux-Induced Transporter Dysregulation in an Esophageal Adenocarcinoma Model

Pharmaceuticals, 2023
We recently reported that cranberry proanthocyanidins (C-PACs) inhibit esophageal adenocarcinoma (EAC) by 83% through reversing reflux-induced bacterial, inflammatory and immune-implicated proteins and genes as well as reducing esophageal bile acids ...
Yun Zhang, Katherine M. Weh, Bridget A. Tripp, Jennifer L. Clarke, Connor L. Howard, Shruthi Sunilkumar, Amy B. Howell, Laura A. Kresty   +7 more
doaj   +1 more source

Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease [PDF]

, 2007
Gene expression profiling is a powerful method by which alterations in gene expression can be interrogated in a single experiment. The disease familial adenomatous polyposis (FAP) is associated with germline mutations in the APC gene, which result in ...
Nikola A Bowden, Amanda Croft, Rodney J Scott   +2 more
core   +1 more source

Mutations in theSLCO2A1Gene and Primary Hypertrophic Osteoarthropathy: A Clinical and Biochemical Characterization [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2013
We previously demonstrated that deficiency of the prostaglandin transporter (SLCO2A1) is a cause of primary hypertrophic osteoarthropathy (PHO). However, its clinical and metabolic characteristics have not been well defined.The objective of the study was to expand this mutational spectrum to better delineate the SLCO2A1 deficiency phenotype and ...
Zeng, Zhang, Jin-Wei, He, Wen-Zhen, Fu, Chang-Qing, Zhang, Zhen-Lin, Zhang   +4 more
openaire   +2 more sources

Characterizing the normal proteome of human ciliary body [PDF]

, 2013
BACKGROUND: The ciliary body is the circumferential muscular tissue located just behind the iris in the anterior chamber of the eye. It plays a pivotal role in the production of aqueous humor, maintenance of the lens zonules and accommodation by changing
Akhilesh Pandey, Anil K Madugundu, Dhanashree S Kelkar, Gourav Dey, HC Harsha, Krishna R Murthy, Mitali Bhattacharjee, Renu Goel, Shukti Chakravarti, Sneha M Pinto, Srinivas M Srikanth, Sujatha S Mohan, TS Prasad, Venkatarangaiah Krishna   +13 more
core   +1 more source