The Singaraja laboratory is focused on two major themes: 1) factors regulating the metabolism of high density lipoproteins and reverse cholesterol transport and their relationships to cardiovascular disease, and 2) utilizing human genetics to identify and characterize novel pathways regulating cardiometabolic diseases. We utilize human Mendelian genetics, human clinical studies, mouse models, cell culture models and translational approaches to identify and validate targets modulating cardiometabolic diseases.
1) The roles of novel genes in HDL lipoprotein metabolism and atherosclerosis. Knock-out and tissue-specific knock-out mouse models, as well as human phenotyping and in vitro approaches are being used.
2) Deep phenotyping of humans with low-frequency and rare variants in genes influencing cardiometabolic traits, and mechanistic studies utilizing patient iPS cells.
3) Identification of novel genes underlying rare genetic diseases.
Dr. Roshni Singaraja is an Assistant Principal Investigator at the Translational Laboratories in Genetic Medicine at the Agency for Science, Technology and Research (A*STAR), and an Assistant Professor in the Department of Medicine at the Yong Loo Lin School of Medicine, National University of Singapore.
David Castano Mayan completed his Bachelors degree in Biology in 2005 from the University of Basque Country UPV/EHU. During his studies, he also worked for 1 year as an intern at Department of Microbiology. In 2012, after completing his BSc, he obtained a PhD in Biochemistry from the University of Basque Country UPV/EHU working on structural studies of a bi-domain protein with segmental flexibility involved in porphyria diseases. He then moved to the Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, where he worked with Cardiotrophin-1 (rCT-1), a protein member of the IL-6 cytokine family which is able to resolve hepatic steatosis in obese mice by mechanisms involving AMPK activation, and is a potential therapeutic target for NAFLD. David has published 12 papers in international peer reviewed journals, 3 of which he is the lead author on. He joined the Singaraja lab in 2015.
Shiqi completed her undergraduate thesis in State Key Laboratory of Microbial Metabolism, Shanghai Jiao Tong University, China in 2015 and graduated with a Bachelor of Science degree in Biotechnology. In the same year, she was admitted into the PhD program at the Yong Loo Lin School of Medicine, National University of Singapore. She started her PhD studies at TLGM in Dr. Roshni Singaraja’s lab in August 2015, and her research project will be focused on the impact of mutations in novel genes on lipid and glucose metabolism in humans.
Vera obtained her BSc degree in Biology in 2008 from the University of Trás-os-Montes e Alto Douro (UTAD), Portugal. While studying Biology, she also worked for one year as an intern at the Department of Physiology, Faculty of Medicine, University of Porto, Portugal. She then completed her Msc degree in Biotechnology for Health Sciences in 2010 from UTAD. In 2011, she joined the research group headed by Romeu Videira, Department of chemistry at UTAD, to work on a research project entitled “A lipidomic approach of Alzheimer’ disease - Study of lipid profile changes in brain mitochondria”. Vera was then awarded the Singapore International Graduate Award (SINGA) joining the Singaraja Lab in January 2016 as PhD student. Her research is focused on the impact of bile acids in the brain.
Maria graduated from the University of Milan, Italy with a BSc in Biology in 2013. In the same year she was admitted to the Biology Applied to Research in Biomedicine (BARB) Master’s degree program at the University of Milan, and obtained her MSc with honors in 2015. While enrolled in the MSc program, she spent one year at the research group headed by Dr. Giulio Pompilio in the Unit of Vascular Biology and Regenerative Medicine at Centro Cardiologico Monzino, Milan, where she worked to identify the role of Cyclophilin A in ischemia-induced neo-angiogenesis. Maria was awarded the Singapore International Pre-Graduate Award (SIPGA) and in February 2016 she joined the lab of Dr. Roshni Singaraja at the Translational Laboratory in Genetic Medicine (TLGM). Her research project is focused on determining novel mechanisms implicated in lipid and glucose metabolism and their pathological role in diabetes.
Yiran graduated from Zhejiang University, China with a BSc in Biological Science in 2016. Her undergraduate work mainly focused on the function of SMAD4 in the TGF-beta signaling pathway. In the same year, she was admitted into the PhD program at the Yong Loo Lin School of Medicine, National University of Singapore. She started her PhD studies at TLGM in Dr. Roshni Singaraja’s lab in October 2016.
Kai Ping graduated with a MSc in 2001 from Simon Fraser University, Canada, and a BSc from the National University of Singapore in biology. His MSc was on the developmental biology of Drosophila using molecular techniques. Thereafter, he had research stints at the Hospital for Sick Children in Toronto, Canada, and in Singapore: the Centre for Molecular Medicine, Division of Biomedical Sciences Johns Hopkins, Duke-NUS Graduate Medical School and the Institute of Medical Biology. Currently, as a member of the Translational Laboratories in Genetic Medicine, he is involved in a project to validate novel genes with impact on metabolic disease using human genetics, and human experimental clinical studies.
Kaviya Anand completed her Bachelors in Microbiology and Masters in Molecular Biology from University of Madras in 2012. She then worked as a Senior Research Fellow at the Centre for Plant Molecular Biology & Biotechnology, Tamil Nadu Agricultural University. In 2014,she joined the Madras Diabetes Research Foundation, India as a researcher. She has 2 publications in peer reviewed journals, one of which she is a lead author. Kaviya joined the Singaraja lab in 2016.
Trigueros-Motos L, van Capelleveen JC, Torta F, Castaño D, Zhang LH, Chai C, Kang M, Dimova LG, Schimmel AWM, Tietjen I, Radomski C, Tan LJ, Hwee TC, Narayanaswamy P, Wu D, Dorninger F, Yakala GK, Barhdadi A, Angeli V, Dubé MP, Berger J, Dallinga-Thie GM, Tietge UJF, Wenk MR, Hayden MR, Hovingh GK, Singaraja RR. ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels. Arterioscler Thromb Vasc Biol. 2017 Sep 7. pii: ATVBAHA.117.309574. doi: 10.1161/ATVBAHA.117.309574.
Skotte NH*, Sanders SS*, Singaraja RR*, Ehrnhoefer DE, Vaid K, Qiu X, Kannan S, Verma C, Hayden MR. Palmitoylation of caspase-6 by HIP14 regulates its activation. Cell Death Differ. 2016 Dec 2. doi: 10.1038/cdd.2016.139.
Sanders SS, Hou J, Sutton LM, Garside VC, Mui KK, Singaraja RR, Hayden MR, Hoodless PA. Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development. Dev Biol. 2015 Jan 15;397(2):257-66. doi: 10.1016/j.ydbio.2014.11.018. Epub 2014 Dec 3.
Sadananda SN, Foo JN, Toh MT, Cermakova L, Trigueros-Motos L, Chan T, Liany H, Collins JA, Gerami S, Singaraja RR, Hayden MR, Francis GA, Frohlich J, Khor CC, Brunham LR. Targeted next-generation sequencing to diagnose disorders of HDL cholesterol. J Lipid Res. 2015 Oct;56(10):1993-2001. doi: 10.1194/jlr.P058891. Epub 2015 Aug 8.
Herr KJ, Tsang YH, Ong JW, Li Q, Yap LL, Yu W, Yin H, Bogorad RL, Dahlman JE, Chan YG, Bay BH, Singaraja RR, Anderson DG, Koteliansky V, Viasnoff V, Thiery JP. Loss of α-catenin elicits a cholestatic response and impairs liver regeneration. Sci Rep. 2014 Oct 30;4:6835.
Kaur A, Patankar JV, de Haan W, Ruddle P, Wijesekara N, Groen AK, Verchere CB, Singaraja RR, Hayden MR. Loss of Cyp8b1 improves glucose homeostasis by increasing GLP-1. Diabetes. 2014 Oct 22. pii: DB_140716.
Butland SL, Sanders SS, Schmidt ME, Riechers SP, Lin DT, Martin DD, Vaid K, Graham RK, Singaraja RR, Wanker EE, Conibear E, Hayden MR. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Hum Mol Genet. 2014 Aug 1;23(15):4142-60.
Singaraja RR, Tietjen I, Hovingh GK, Franchini PL, Radomski C, Wong K, vanHeek M, Stylianou IM, Lin L, Wang L, Mitnaul L, Hubbard B, Winther M, Mattice M, Legendre A, Sherrington R, Kastelein JJ, Akinsanya K, Plump A, Hayden MR. Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans. J Lipid Res. 2014;55(8):1693-1701.
Rinninger F, Heine M, Singaraja RR, Hayden M, Brundert M, Ramakrishnan R, Heeren J. High Density Lipoprotein Metabolism in Low Density Lipoprotein Receptor-deficient Mice. J Lipid Res. 2014. In Press.
Bochem AE, van Capelleveen JC, Dallinga-Thie GM, Schimmel AW, Motazacker MM, Tietjen I, Singaraja RR, Hayden MR, Kastelein JJ, Stroes ES, Hovingh GK. Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families. Clin Genet. 2014;85(5):433-40.
Singaraja RR, Sivapalaratnam S, Hovingh K, Dubé MP, Castro-Perez J, Collins HL, Adelman SJ, Riwanto M, Manz J, Hubbard B, Tietjen I, Wong K, Mitnaul LJ, van Heek M, Lin L, Roddy TA, McEwen J, Dallinge-Thie G, van Vark-van der Zee L, Verwoert G, Winther M, van Duijn C, Hofman A, Trip MD, Marais AD, Asztalos B, Landmesser U, Sijbrands E, Kastelein JJ, Hayden MR. The impact of partial and complete loss-of-function mutations in endothelial lipase on high-density lipoprotein levels and functionality in humans.Circ Cardiovasc Genet. 2013;6(1):54-62.
Milnerwood AJ, Parsons MP, Young FB, Singaraja RR, Franciosi S, Volta M, Bergeron S, Hayden MR, Raymond LA. Memory and synaptic deficits in Hip14/DHHC17 knockout mice. Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20296-301. doi: 10.1073/pnas.1222384110. Epub 2013 Nov 25.
Wan J, Savas JN, Roth AF, Sanders SS, Singaraja RR, Hayden MR, Yates JR 3rd, Davis NG. Tracking brain palmitoylation change: predominance of glial change in a mouse model of Huntington's disease. Chem Biol. 2013 Nov 21;20(11):1421-34. doi: 10.1016/j.chembiol.2013.09.018. Epub 2013 Nov 7.
Wu DH, Singaraja RR. Clin Genet. Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia. 2013 Jun;83(6):526-7. doi: 10.1111/cge.12127. Epub 2013 Mar 18.
Chai EC, Singaraja RR. Opsismodysplasia: implications of mutations in the developmental gene INPPL1. Clin Genet. 2013 Jun;83(6):527-9. doi: 10.1111/cge.12136. Epub 2013 Mar 24.
Singaraja RR. TREM2: a new risk factor for Alzheimer's disease. Clin Genet. 2013 Jun;83(6):525-6. doi: 10.1111/cge.12108.
Sutton LM, Sanders SS, Butland SL, Singaraja RR, Franciosi S, Southwell AL, Doty CN, Schmidt ME, Mui KK, Kovalik V, Young FB, Zhang W, Hayden MR. Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease. Hum Mol Genet. 2013 Feb 1;22(3):452-65. doi: 10.1093/hmg/dds441. Epub 2012 Oct 16.
Tietjen I, Hovingh GK, Singaraja RR, Radomski C, Barhdadi A, McEwen J, Chan E, Mattice M, Legendre A, Franchini PL, Dubé MP, Kastelein JJ, Hayden MR. Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol. PLoS One. 2012;7(8):e37437.
Tietjen I, Hovingh GK, Singaraja R, Radomski C, McEwen J, Chan E, Mattice M, Legendre A, Kastelein JJ, Hayden MR. Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. Biochim Biophys Acta. 2012;1821(3):416-24.
Young FB, Franciosi S, Spreeuw A, Deng Y, Sanders S, Tam NC, Huang K, Singaraja RR, Zhang W, Bissada N, Kay C, Hayden MR. Low levels of human HIP14 are sufficient to rescue neuropathological, behavioural, and enzymatic defects due to loss of murine HIP14 in Hip14-/- mice. PLoS One. 2012;7(5):e36315. doi: 10.1371/journal.pone.0036315. Epub 2012 May 23.
Brunham LR, Tietjen I, Bochem AE, Singaraja RR, Franchini PL, Radomski C, Mattice M, Legendre A, Hovingh GK, Kastelein JJ, Hayden MR. Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans.Clin Genet. 2011;79(6):575-81.
Singaraja RR, Huang K, Sanders SS, Milnerwood AJ, Hines R, Lerch JP, Franciosi S, Drisdel RC, Vaid K, Young FB, Doty C, Wan J, Bissada N, Henkelman RM, Green WN, Davis NG, Raymond LA, Hayden MR. Altered palmitoylation and neuropathological deficits in mice lacking HIP14.Hum Mol Genet. 2011 Oct 15;20(20):3899-909. doi: 10.1093/hmg/ddr308. Epub 2011 Jul 20.
Ye D, Zhao Y, Hildebrand RB, Singaraja RR, Hayden MR, Van Berkel TJ, Van Eck M. The dynamics of macrophage infiltration into the arterial wall during atherosclerotic lesion development in low-density lipoprotein receptor knockout mice. Am J Pathol. 2011 Jan;178(1):413-22. doi: 10.1016/j.ajpath.2010.11.007. Epub 2010 Dec 23.
Kang MH, Singaraja R, Hayden MR. Adenosine-triphosphate-binding cassette transporter-1 trafficking and function. Trends Cardiovasc Med. 2010;20(2):41-9.
Chung S, Timmins JM, Duong M, Degirolamo C, Rong S, Sawyer JK, Singaraja RR, Hayden MR, Maeda N, Rudel LL, Shelness GS, Parks JS. Targeted deletion of hepatocyte ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolism.J Biol Chem. 2010;285(16):12197-209.
Singaraja RR, Kang MH, Vaid K, Sanders SS, Vilas GL, Arstikaitis P, Coutinho J, Drisdel RC, El-Husseini Ael D, Green WN, Berthiaume L, Hayden MR. Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function. Circ Res. 2009;105(2):138-47.
Karasinska JM, Rinninger F, Lütjohann D, Ruddle P, Franciosi S, Kruit JK, Singaraja RR, Hirsch-Reinshagen V, Fan J, Brunham LR, Bissada N, Ramakrishnan R, Wellington CL, Parks JS, Hayden MR. Specific loss of brain ABCA1 increases brain cholesterol uptake and influences neuronal structure and function.J Neurosci. 2009;29(11):3579-89.
Brunham LR, Singaraja RR, Duong M, Timmins JM, Fievet C, Bissada N, Kang MH, Samra A, Fruchart JC, McManus B, Staels B, Parks JS, Hayden MR. Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis. Arterioscler Thromb Vasc Biol. 2009;29(4):548-54.
Warby SC, Doty CN, Graham RK, Shively J, Singaraja RR, Hayden MR. Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments. Mol Cell Neurosci. 2009 Feb;40(2):121-7. doi: 10.1016/j.mcn.2008.09.007. Epub 2008 Oct 18.
Hines RM, Wu L, Hines DJ, Steenland H, Mansour S, Dahlhaus R, Singaraja RR, Cao X, Sammler E, Hormuzdi SG, Zhuo M, El-Husseini A. Synaptic imbalance, stereotypies, and impaired social interactions in mice with altered neuroligin 2 expression. J Neurosci. 2008 Jun 11;28(24):6055-67. doi: 10.1523/JNEUROSCI.0032-08.2008.
Warby SC, Doty CN, Graham RK, Carroll JB, Yang YZ, Singaraja RR, Overall CM, Hayden MR. Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus. Hum Mol Genet. 2008 Aug 1;17(15):2390-404. doi: 10.1093/hmg/ddn139. Epub 2008 Apr 29.
MacDonald ML, Singaraja RR, Bissada N, Ruddle P, Watts R, Karasinska JM, Gibson WT, Fievet C, Vance JE, Staels B, Hayden MR. Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice. J Lipid Res. 2008 Jan;49(1):217-29. Epub 2007 Oct 24.
Vaid KS, Guttman JA, Singaraja RR, Vogl AW. A kinesin is present at unique sertoli/spermatid adherens junctions in rat and mouse testes. Biol Reprod. 2007 Dec;77(6):1037-48. Epub 2007 Sep 12.
Valenza M, Carroll JB, Leoni V, Bertram LN, Björkhem I, Singaraja RR, Di Donato S, Lutjohann D, Hayden MR, Cattaneo E. Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation. Hum Mol Genet. 2007 Sep 15;16(18):2187-98. Epub 2007 Jul 5.
Hirsch-Reinshagen V, Chan JY, Wilkinson A, Tanaka T, Fan J, Ou G, Maia LF, Singaraja RR, Hayden MR, Wellington CL. Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo. J Lipid Res. 2007 Apr;48(4):914-23. Epub 2007 Jan 18.
Singaraja RR, Van Eck M, Bissada N, Zimetti F, Collins HL, Hildebrand RB, Hayden A, Brunham LR, Kang MH, Fruchart JC, Van Berkel TJ, Parks JS, Staels B, Rothblat GH, Fiévet C, Hayden MR. Both hepatic and extrahepatic ABCA1 have discrete and essential functions in the maintenance of plasma high-density lipoprotein cholesterol levels in vivo.Circulation. 2006;114(12):1301-9.
Singaraja RR, Visscher H, James ER, Chroni A, Coutinho JM, Brunham LR, Kang MH, Zannis VI, Chimini G, Hayden MR. Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro. Circ Res. 2006;99(4):389-97.
Singaraja RR, Stahmer B, Brundert M, Merkel M, Heeren J, Bissada N, Kang M, Timmins JM, Ramakrishnan R, Parks JS, Hayden MR, Rinninger F. Hepatic ATP-binding cassette transporter A1 is a key molecule in high-density lipoprotein cholesteryl ester metabolism in mice.Arterioscler Thromb Vasc Biol. 2006;26(8):1821-7.
Brunham LR, Singaraja RR, Hayden MR. Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis. Annu Rev Nutr. 2006;26:105-29.
Yanai A, Huang K, Kang R, Singaraja RR, Arstikaitis P, Gan L, Orban PC, Mullard A, Cowan CM, Raymond LA, Drisdel RC, Green WN, Ravikumar B, Rubinsztein DC, El-Husseini A, Hayden MR. Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function.Nat Neurosci. 2006 Jun;9(6):824-31. Epub 2006 May 14.
Van Eck M, Singaraja RR, Ye D, Hildebrand RB, James ER, Hayden MR, Van Berkel TJ. Macrophage ATP-binding cassette transporter A1 overexpression inhibits atherosclerotic lesion progression in low-density lipoprotein receptor knockout mice. Arterioscler Thromb Vasc Biol. 2006 Apr;26(4):929-34. Epub 2006 Feb 2.
Brunham LR, Singaraja RR, Pape TD, Kejariwal A, Thomas PD, Hayden MR. Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. PLoS Genet. 2005 Dec;1(6):e83. Epub 2005 Dec 30.
Singaraja RR, James ER, Crim J, Visscher H, Chatterjee A, Hayden MR. Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1. J Lipid Res. 2005 Oct;46(10):2061-71. Epub 2005 Jul 16.
Warby SC, Chan EY, Metzler M, Gan L, Singaraja RR, Crocker SF, Robertson HA, Hayden MR. Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo. Hum Mol Genet. 2005 Jun 1;14(11):1569-77. Epub 2005 Apr 20.
Coutinho JM, Singaraja RR, Kang M, Arenillas DJ, Bertram LN, Bissada N, Staels B, Fruchart JC, Fievet C, Joseph-George AM, Wasserman WW, Hayden MR. Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesis. J Lipid Res. 2005 Jun;46(6):1113-23. Epub 2005 Mar 16.
Huang K, Yanai A, Kang R, Arstikaitis P, Singaraja RR, Metzler M, Mullard A, Haigh B, Gauthier-Campbell C, Gutekunst CA, Hayden MR, El-Husseini A. Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins. Neuron. 2004 Dec 16;44(6):977-86.
Singaraja RR, Brunham LR, Visscher H, Kastelein JJ, Hayden MR. Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol. 2003 Aug 1;23(8):1322-32. Epub 2003 May 22.
Wellington CL, Brunham LR, Zhou S, Singaraja RR, Visscher H, Gelfer A, Ross C, James E, Liu G, Huber MT, Yang YZ, Parks RJ, Groen A, Fruchart-Najib J, Hayden MR. Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1. J Lipid Res. 2003 Aug;44(8):1470-80. Epub 2003 May 1.
Singaraja RR, Fievet C, Castro G, James ER, Hennuyer N, Clee SM, Bissada N, Choy JC, Fruchart JC, McManus BM, Staels B, Hayden MR. Increased ABCA1 activity protects against atherosclerosis. J Clin Invest. 2002;110(1):35-42.
Singaraja RR, Hadano S, Metzler M, Givan S, Wellington CL, Warby S, Yanai A, Gutekunst CA, Leavitt BR, Yi H, Fichter K, Gan L, McCutcheon K, Chopra V, Michel J, Hersch SM, Ikeda JE, Hayden MR. HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis. Hum Mol Genet. 2002 Nov 1;11(23):2815-28.
Attie AD, Hamon Y, Brooks-Wilson AR, Gray-Keller MP, MacDonald ML, Rigot V, Tebon A, Zhang LH, Mulligan JD, Singaraja RR, Bitgood JJ, Cook ME, Kastelein JJ, Chimini G, Hayden MR. Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken. J Lipid Res. 2002 Oct;43(10):1610-7.
See RH, Caday-Malcolm RA, Singaraja RR, Zhou S, Silverston A, Huber MT, Moran J, James ER, Janoo R, Savill JM, Rigot V, Zhang LH, Wang M, Chimini G, Wellington CL, Tafuri SR, Hayden MR. Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux. J Biol Chem. 2002 Nov 1;277(44):41835-42. Epub 2002 Aug 23.
Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002 Oct;32(2):326-30. Epub 2002 Aug 12.
Singaraja RR, Bocher V, James ER, Clee SM, Zhang LH, Leavitt BR, Tan B, Brooks-Wilson A, Kwok A, Bissada N, Yang YZ, Liu G, Tafuri SR, Fievet C, Wellington CL, Staels B, Hayden MR. Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1. J Biol Chem. 2001;276(36):33969-79.
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