Research Topics
Species | Samir S DeebSummaryAffiliation: University of Washington Country: USA Publications
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Publications
A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivityS S Deeb
Department of Medicine, University of Washington, Seattle 98195, USA
Nat Genet 20:284-7. 1998..These findings suggest that the PPARgamma2 Pro12Ala variant may contribute to the observed variability in BMI and insulin sensitivity in the general population...
Interindividual and topographical variation of L:M cone ratios in monkey retinasS S Deeb
Department of Medicine, University of Washington, Seattle 98195, USA
J Opt Soc Am A Opt Image Sci Vis 17:538-44. 2000..The correlation between mRNA ratios and physiological cone gain ratio supports the conclusion that both measures reflect the relative number of L and M cones...
Genetics of color vision deficienciesSamir S Deeb
Departments of Medicine and Genome Sciences, University of Washington, Seattle, Wash, USA
Dev Ophthalmol 37:170-87. 2003..A number of mutations in the genes encoding the cone-specific alpha- and beta-subunits of the cation channel and the alpha-subunit of transducin have been implicated in this disorder...
Identification of novel retinal target genes of thyroid hormone in the human WERI cells by expression microarray analysisYan Liu
Division of Medical Genetics, Departments of Medicine and Genome Sciences, University of Washington, Box 357720, Seattle, WA 98195 7720, USA
Vision Res 47:2314-26. 2007..In addition, we found a number of novel TH-targets that are not currently known to be retinal genes. This is the first report of human retinal targets regulated by thyroid hormone...
Transcriptional regulation of the human hepatic lipase (LIPC) gene promoterLaura E Rufibach
Department of Medical Genetics, University of Washington, Seattle, USA
J Lipid Res 47:1463-77. 2006..The overall effect these transcription factors have on HL expression will ultimately depend on the interplay between these various factors and their relative intracellular concentrations...
The effect of hepatic lipase on coronary artery disease in humans is influenced by the underlying lipoprotein phenotypeJohn D Brunzell
University of Washington, Department of Medicine, Division of Metabolism, Endocrinology and Nutrition, Box 356426, 1959 NE Pacific Avenue, Seattle, Washington 98195, USA
Biochim Biophys Acta 1821:365-72. 2012..This article is part of a Special Issue entitled Advances in High Density Lipoprotein Formation and Metabolism: A Tribute to John F. Oram (1945-2010)...
Cone visual pigments of the Australian marsupials, the stripe-faced and fat-tailed dunnarts: sequence and inferred spectral propertiesJessica Strachan
Department of Medicine, University of Washington, Seattle, USA
Vis Neurosci 21:223-9. 2004..The MWS pigments of the two species differ by two, and UVS by three amino acid positions. No evidence was obtained for a third cone pigment in either species...
Ethnic differences in hepatic lipase and HDL in Japanese, black, and white Americans: role of central obesity and LIPC polymorphismsMolly C Carr
Division of Metabolism, Endocrinology, and Nutrition, Department of Medicine, University of Washington, Seattle, WA, USA
J Lipid Res 45:466-73. 2004....
Distinguishing L from M photopigment coding sequences by hybridization to novel locked nucleic acid (LNA) oligonucleotide probesChristina Pettan-Brewer
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA
Vis Neurosci 25:283-7. 2008..This result strongly suggests that these probes would be instrumental in rapidly distinguishing L from M cone in the entire retina, and in defining the cone mosaic during development and in adults...
Energy balance in congenital generalized lipodystrophy type ISasha Taleban
General Clinical Research Center, University of Washington, USA
Metabolism 57:1155-61. 2008..Appetite-regulating hormone levels in CGL-1 suggest that multiple factors act to control appetite in these individuals...
Hepatic lipase and dyslipidemia: interactions among genetic variants, obesity, gender, and dietSamir S Deeb
Divisions of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA
J Lipid Res 44:1279-86. 2003..The dyslipidemia with high HL activity is a potentially proatherogenic lipoprotein profile in the metabolic syndrome, in Type 2 diabetes, and in familial combined hyperlipidemia...
Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 geneAvery H Weiss
Roger H Johnson Clinical Vision Laboratory, Division of Ophthalmology, Seattle Children s Hospital, Seattle, WA 98105, USA
Ophthalmic Genet 33:187-95. 2012..To document an infant with a cone photoreceptor disorder associated with severe thyroid hormone resistance due to compound heterozygosity in the thyroid hormone receptor beta 2 (TRβ2) encoding gene THRβ2...
Genetics of variation in human color vision and the retinal cone mosaicSamir S Deeb
Departments of Medicine, Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98185, USA
Curr Opin Genet Dev 16:301-7. 2006..The transcription factors NR2E3, TRbeta2 and RXRgamma play crucial roles in establishment of the retinal cone mosaic during eye development...
The cone visual pigments of an Australian marsupial, the tammar wallaby (Macropus eugenii): sequence, spectral tuning, and evolutionSamir S Deeb
Department of Medicine, University of Washington, Seattle, USA
Mol Biol Evol 20:1642-9. 2003..Introns interrupt the coding sequences of the wallaby, mouse, and human MWS pigment sequences at the same corresponding nucleotide positions. However, the length of introns varies widely among these species...
Apolipoprotein L-I is positively associated with hyperglycemia and plasma triglycerides in CAD patients with low HDLTimothy S E Albert
Department of Medicine, University of Washington, Seattle, WA, USA
J Lipid Res 46:469-74. 2005..In conclusion, we found TG and HG to be the strongest predictors of apoL-I within a dyslipidemic CAD population. These data provide further characterization of the novel HDL-associated apoL-I...
Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase geneJonas Peterson
Division of Metabolism, Endocrinology, and Nutrition, Department of Medicine, Box 356426, University of Washington Medical Center, Seattle, WA 98195 6426, USA
J Lipid Res 43:398-406. 2002..These results stress the importance of conformational evaluation of mutant LPL. Absence of catalytic activity does not necessarily imply that the substituted amino acid plays a specific direct role in catalysis...
The Role of the PGC1alpha Gly482Ser Polymorphism in Weight Gain due to Intensive Diabetes TherapySamir S Deeb
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
PPAR Res 2009:649286. 2009..We conclude that T2DM and the Gly482Ser polymorphism in PGC1alpha contribute to the effect of intensive diabetes therapy on weight gain in males with T1DM...
Mutually exclusive expression of the L and M pigment genes in the human retinoblastoma cell line WERI: Resetting by cell divisionSamir S Deeb
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA
Vis Neurosci 23:371-8. 2006..Third, determination of L and M cone identity may not require external molecular cues during differentiation, and is consistent with the idea that L and M cones are not intrinsically different...
Molecular genetics of color-vision deficienciesSamir S Deeb
Department of Medicine, University of Washington, Seattle, USA
Vis Neurosci 21:191-6. 2004..A number of mutants in the genes encoding the cone-specific alpha- and beta-subunits of the cGMP-gated cation channel as well as in the alpha-subunit of transducin have been implicated in this disorder...
Molecular genetics of colour vision deficienciesSamir S Deeb
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA
Clin Exp Optom 87:224-9. 2004....
Köbberling type of familial partial lipodystrophy: an underrecognized syndromeKaren L Herbst
Department of Medicine, University of Washington, Seattle, Washington, USA
Diabetes Care 26:1819-24. 2003..The latter disorder is associated with mutations in the LMNA gene. FPLD1 is thought to be rare. Here, we report 13 subjects with FPLD1, suggesting that this syndrome is more common than previously thought...
Expression of rinx/vsx1 during postnatal eye development in cone-bipolar, differentiating ganglion, and lens fiber cellsTakaaki Hayashi
Department of Medicine, University of Washington, Seattle, WA, USA
Jpn J Ophthalmol 49:93-105. 2005..To investigate the expression pattern of the homeobox transcription factor Rinx (also referred to as Vsx1) during postnatal eye development of the mouse...
Hepatic lipase: a marker for cardiovascular disease risk and response to therapyAlberto Zambon
Department of Medical and Surgical Sciences, University of Padova, Italy
Curr Opin Lipidol 14:179-89. 2003..The potential impact of genetic determinants of hepatic lipase activity in modulating both the development of coronary and carotid atherosclerosis will be discussed based on hepatic lipase proposed roles in lipoprotein metabolism...
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genesWolfgang M Jagla
Department of Neuro-Ophthalmology, University Eye Hospital, Roentgenweg 11, , Germany
Hum Mol Genet 11:23-32. 2002....
Differential effect of PPARgamma2 variants in the development of type 2 diabetes between native Japanese and Japanese AmericansMasami Nemoto
Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Jikei University School of Medicine, 3 25 8 Nishishinbashi, Minato ku, Tokyo 105 8461, Japan
Diabetes Res Clin Pract 57:131-7. 2002..The data with emigrants suggests the possible interaction of gene-environment in the development of type 2 diabetes...
Association between the --514 C-->T polymorphism of the hepatic lipase gene promoter and unstable carotid plaque in patients with severe carotid artery stenosisElisabetta Faggin
Dipartimento di Medicina Clinica e Sperimentale, Universita di, Padova, Italy
J Am Coll Cardiol 40:1059-66. 2002..We investigated the potential association between -514 C-->T polymorphism in the promoter of the hepatic lipase gene (LIPC) and the prevalence of inflammatory cells in the plaque of patients with severe carotid artery stenosis...
Common hepatic lipase gene promoter variant predicts the degree of neointima formation after carotid endarterectomy: impact of plaque composition and lipoprotein phenotypeAlberto Zambon
Department of Medical and Surgical Sciences, University of Padua, Italy
Atherosclerosis 185:121-6. 2006..We investigated the potential relationship between these polymorphisms and the maximum-intima-media thickness (M-IMT) after carotid endarterectomy...
X-linked high myopia associated with cone dysfunctionTerri L Young
Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
Arch Ophthalmol 122:897-908. 2004..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia...
Cone visual pigments of monotremes: filling the phylogenetic gapMatthew J Wakefield
ARC, Centre for Kangaroo Genomics, Bioinformatics, The Walter and Eliza Hall Institute, Parkville, Australia
Vis Neurosci 25:257-64. 2008..So far, the echidna and platypus are the only mammals that share the gene structure of the LWS-SWS2 pigment gene complex with reptiles, birds and fishes...
