Genomes and Genes
Affiliation: Merck Research Laboratories
- Identification of the gene responsible for Best macular dystrophyK Petrukhin
Department of Human Genetics, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
Nat Genet 19:241-7. 1998..The 3' UTR of the candidate gene contains a region of antisense complementarity to the 3' UTR of the ferritin heavy-chain gene (FTH1), indicating the possibility of antisense interaction between VMD2 and FTH1 transcripts...
- Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictionsK Petrukhin
Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, NY
Hum Mol Genet 3:1647-56. 1994..It appears that the mechanism of alternative splicing serves to regulate the amount of functional WD protein produced in brain, kidney, placenta, and possibly in liver...
- Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 geneP S Bernstein
Department of Ophthalmology and Visual Sciences, Moran Eye Center, Columbia University, 630 West 168th Street, New York, NY 10032, USA
Invest Ophthalmol Vis Sci 42:3331-6. 2001..In the current study, the potential involvement was investigated of an ELOVL4 gene variation in adSTGD-like and other macular dystrophy phenotypes segregating in a large unrelated pedigree from Utah (K4175)...
- A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophyK Zhang
Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Nat Genet 27:89-93. 2001..Our results are therefore the first to implicate the biosynthesis of fatty acids in the pathogenesis of inherited macular degeneration...
- Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epitheliumA D Marmorstein
Department of Ophthalmic Research, Cole Eye Institute, and Department of Cell Biology, Lerner Research Institute, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland OH 44195, USA
Proc Natl Acad Sci U S A 97:12758-63. 2000..The basolateral plasma membrane localization of bestrophin suggests the possibility that bestrophin plays a role in generating the altered electrooculogram of individuals with Best disease...
- Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cellsF Chen
Department of Human Genetics, Merck Research Laboratories, West Point, PA 19486, USA
Proc Natl Acad Sci U S A 96:15149-54. 1999....
- Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathiesR Allikmets
Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, MD 21702 1201, USA
Hum Genet 104:449-53. 1999....
- The mutation spectrum of the bestrophin protein--functional implicationsB Bakall
Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
Hum Genet 104:383-9. 1999..Computer simulations of the structural elements in the bestrophin protein show that this protein is probably membrane bound, with four putative transmembrane regions...
- Identification of a novel transcription regulator from Proteus mirabilis, PMTR, revealed a possible role of YJAI protein in balancing zinc in Escherichia coliM Noll
Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, Oregon 97201, USA
J Biol Chem 273:21393-401. 1998..We propose that YJAI is an important component of the zinc-balancing mechanism in E. coli, the up-regulation of which with PMTR results in an increased tolerance to zinc...
- Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analysesA B Shah
Department of Genetics and Development, Columbia University, New York, NY 10032, USA
Am J Hum Genet 61:317-28. 1997..Finally, lymphoblast cell lines from individuals homozygous for His1069Glu and 4 other mutations all demonstrated significantly decreased copper-stimulated ATPase activity...
- Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartmentsX L Yang
Department of Biochemistry, Akita University School of Medicine, 1 1 1 Hondo, Akita, Akita 010, Japan
Biochem J 326:897-902. 1997..These results suggest that the alternative WD proteins act as key regulators of copper metabolism, perhaps by performing distinct roles in the intracellular transport and export of copper...
- Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22T Klockars
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, 00300, Finland
Genomics 35:71-8. 1996..Here we report a complete physical map of about 350 kb covering the critical chromosomal region of CLN5, which will facilitate the final isolation of the CLN5 gene...
- Evaluation of the ELOVL4 gene in patients with age-related macular degenerationR Ayyagari
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
Ophthalmic Genet 22:233-9. 2001..However, for the detection of modest effects of multiple alleles in a complex disease, the analysis of larger cohorts of patients may be required...