Results 31 to 40 of about 406 (136)
Structure of a membrane-embedded prenyltransferase homologous to UBIAD1. [PDF]
PLoS Biology, 2014 Membrane-embedded prenyltransferases from the UbiA family catalyze the Mg2+-dependent transfer of a hydrophobic polyprenyl chain onto a variety of acceptor molecules and are involved in the synthesis of molecules that mediate electron transport ...
Hua Huang +5 more
doaj +1 more source
Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution [PDF]
, 2018 Introduction. Multilamellar bodies (MLBs) are concentric cytoplasmic membranes which form through an autophagy-dependent mechanism. In the cornea, the presence of MLBs is associated with Schnyder corneal dystrophy (SCD).
Veréb, Zoltán +8 more
core +3 more sources
Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data. [PDF]
PLoS ONE, 2009 BACKGROUND: In families segregating a monogenic genetic disorder with a single disease gene introduction, patients share a mutation-carrying chromosomal interval with identity-by-descent (IBD). Such a shared chromosomal interval or haplotype, surrounding
Haiyan Jiang +6 more
doaj +1 more source
Schnyders corneal dystrophy: A case report
Indian Journal of Clinical and Experimental Ophthalmology, 2023 Schnyder corneal dystrophy (SCD) is a rare, autosomal dominant inherited dystrophy affecting the anterior stroma of the cornea. It is caused by a local metabolic defect mapped on the UBIAD1 gene chromosome 1p36. It is known to causes progressive bilateral opacification of the cornea due to an abnormal accumulation of phospholipids and cholesterol in ...
Mervin Jonathan Israel, Keerti Wali
openaire +1 more source
, 2009 Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids.
Weiss, Jayne S.; Kruth, Howard S.; Kuivaniemi, Helena; Tromp, Gerard; Karkera, Jayaprakash; Mahurkar, Sunil; Lisch, Walter; Dupps, William J; White, Peter S.; Winters, R. Scott; Kim, Chaesik; Rapuano, Christopher J.; Sutphin, John; Reidy, Jim; Hu, Fung-Rong +1 more
core +2 more sources
The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase
eLife, 2015 Schnyder corneal dystrophy (SCD) is an autosomal dominant disorder in humans characterized by abnormal accumulation of cholesterol in the cornea.
Marc M Schumacher +4 more
doaj +1 more source
Journal of Lipid Research, 2016 UbiA prenyltransferase domain-containing protein-1 (UBIAD1) utilizes geranylgeranyl pyrophosphate (GGpp) to synthesize the vitamin K2 subtype menaquinone-4.
Marc M. Schumacher +4 more
doaj +1 more source
Case Reports in Ophthalmological Medicine, Volume 2013, Issue 1, 2013., 2013 A 7‐year‐old girl had presented with high body temperature and joint pain which continued for 3 days. Because of the prolonged history of unexplained fever, rash, bilateral nonpurulent conjunctival injection, oropharyngeal erythema, strawberry tongue, and extreme of age, incomplete Kawasaki disease was considered and started on an intravenous ...
Elif Erdem +7 more
wiley +1 more source
Tropheryma whipplei Crystalline Keratopathy: Report of a Case and Updated Review of the Literature
Case Reports in Ophthalmological Medicine, Volume 2012, Issue 1, 2012., 2012 Purpose. To report a case of Tropheryma whipplei infection with crystalline keratopathy and review the recent literature on the presentation, diagnosis, and management of Whipple′s disease. Methods. Detailed case presentation and extensive literature search of Pubmed for all years through February 2012 using the following search terms: Whipple′s ...
Scott D. Schoenberger +5 more
wiley +1 more source
BioMed Research International, Volume 2005, Issue 3, Page 254-270, 2005., 2005 Arterial smooth muscle cells (SMCs) play a major role in atherosclerosis and restenosis. Differential display was used to compare transcription profiles of synthetic SMCs to proliferating rat cultured SMC line. An isolated cDNA band (6A3‐5) was shown by northern (7 kb) to be upregulated in the proliferating cell line.
Kazem Zibara +2 more
wiley +1 more source