LEN ALEXANDER PENNACCHIO

Summary

Affiliation: Lawrence Berkeley National Laboratory
Country: USA

Publications

  1. ncbi request reprint Insights from human/mouse genome comparisons
    Len A Pennacchio
    Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, California, USA
    Mamm Genome 14:429-36. 2003
  2. ncbi request reprint In vivo characterization of human APOA5 haplotypes
    Nadav Ahituv
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
    Genomics 90:674-9. 2007
  3. pmc VISTA Enhancer Browser--a database of tissue-specific human enhancers
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720 USA
    Nucleic Acids Res 35:D88-92. 2007
  4. pmc Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Nature 464:409-12. 2010
  5. pmc Large-scale discovery of enhancers from human heart tissue
    Dalit May
    Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA
    Nat Genet 44:89-93. 2012
  6. pmc Differences in enhancer activity in mouse and zebrafish reporter assays are often associated with changes in gene expression
    Ana Ariza-Cosano
    Centro Andaluz de Biologia del Desarrollo CABD, CSIC Universidad Pablo de Olavide Junta de Andalucía, Ctra Utrera km 1, Seville 41013, Spain
    BMC Genomics 13:713. 2012
  7. doi request reprint Enhancers: five essential questions
    Len A Pennacchio
    Genomics Division, One Cyclotron Road, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Nat Rev Genet 14:288-95. 2013
  8. pmc The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts
    Jan Bressler
    Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA
    BMC Med Genet 10:56. 2009
  9. pmc SNP-VISTA: an interactive SNP visualization tool
    Nameeta Shah
    Institute for Data Analysis and Visualization, IDAV, Department of Computer Science, University of California, Davis, One ShieldsAve, Davis, CA 95616, USA
    BMC Bioinformatics 6:292. 2005
  10. ncbi request reprint Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels
    Len A Pennacchio
    Genome Sciences Department, MS 84 171, Lawrence Berkeley National Laboratory, One Cyclotron Road, Berkeley, CA 94720, USA
    Hum Mol Genet 11:3031-8. 2002

Detail Information

Publications62

  1. ncbi request reprint Insights from human/mouse genome comparisons
    Len A Pennacchio
    Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, California, USA
    Mamm Genome 14:429-36. 2003
    ..Accordingly, this review focuses on the initial comparison of available mammalian genomes and describes various insights derived from such analysis...
  2. ncbi request reprint In vivo characterization of human APOA5 haplotypes
    Nadav Ahituv
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
    Genomics 90:674-9. 2007
    ....
  3. pmc VISTA Enhancer Browser--a database of tissue-specific human enhancers
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720 USA
    Nucleic Acids Res 35:D88-92. 2007
    ..These experimentally validated training sets are expected to provide a basis for a wide range of downstream computational and functional studies of enhancer function...
  4. pmc Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Nature 464:409-12. 2010
    ....
  5. pmc Large-scale discovery of enhancers from human heart tissue
    Dalit May
    Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA
    Nat Genet 44:89-93. 2012
    ....
  6. pmc Differences in enhancer activity in mouse and zebrafish reporter assays are often associated with changes in gene expression
    Ana Ariza-Cosano
    Centro Andaluz de Biologia del Desarrollo CABD, CSIC Universidad Pablo de Olavide Junta de Andalucía, Ctra Utrera km 1, Seville 41013, Spain
    BMC Genomics 13:713. 2012
    ..While isolated examples of trans-changes have been identified, the scale of their overall contribution to regulatory and phenotypic evolution remains unclear...
  7. doi request reprint Enhancers: five essential questions
    Len A Pennacchio
    Genomics Division, One Cyclotron Road, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Nat Rev Genet 14:288-95. 2013
    ....
  8. pmc The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts
    Jan Bressler
    Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA
    BMC Med Genet 10:56. 2009
    ..The combined study sample is comprised of 24,722 white, African-American, and Mexican-American participants...
  9. pmc SNP-VISTA: an interactive SNP visualization tool
    Nameeta Shah
    Institute for Data Analysis and Visualization, IDAV, Department of Computer Science, University of California, Davis, One ShieldsAve, Davis, CA 95616, USA
    BMC Bioinformatics 6:292. 2005
    ..The program is available at http://genome.lbl.gov/vista/snpvista1...
  10. ncbi request reprint Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels
    Len A Pennacchio
    Genome Sciences Department, MS 84 171, Lawrence Berkeley National Laboratory, One Cyclotron Road, Berkeley, CA 94720, USA
    Hum Mol Genet 11:3031-8. 2002
    ..Together, the APOA5*2 and APOA5*3 haplotypes are found in 25-50% of African-Americans, Hispanics and Caucasians and support the contribution of common human variation to quantitative phenotypes in the general population...
  11. pmc Comparative genomic tools and databases: providing insights into the human genome
    Len A Pennacchio
    Genome Sciences Department, MS 84 171, Lawrence Berkeley National Laboratory, One Cyclotron Road, Berkeley, CA 94720, USA
    J Clin Invest 111:1099-106. 2003
  12. ncbi request reprint Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice
    Len A Pennacchio
    Department of Genome Sciences, MS 84 171, One Cyclotron Rd, Lawrence Berkeley National Laboratory, Berkeley, Calif 94720, USA
    Arterioscler Thromb Vasc Biol 23:529-34. 2003
    ..In summary, APOA5 represents a newly discovered gene involved in triglyceride metabolism in both humans and mice whose mechanism of action remains to be deciphered...
  13. ncbi request reprint In vivo enhancer analysis of human conserved non-coding sequences
    Len A Pennacchio
    US Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA
    Nature 444:499-502. 2006
    ....
  14. ncbi request reprint Comparative genomics: a tool to functionally annotate human DNA
    Jan Fang Cheng
    Genomics Division, Lawrence Berkeley National Laboratory, CA, USA
    Methods Mol Biol 366:229-51. 2007
    ..These pursuits have led to the development of a variety of valuable databases and resources that should serve as a routine toolbox for biological discovery...
  15. pmc Ultraconservation identifies a small subset of extremely constrained developmental enhancers
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Nat Genet 40:158-60. 2008
    ..Developmental enhancers were equally prevalent in both populations, suggesting instead that ultraconservation identifies a small, functionally indistinct subset of similarly constrained cis-regulatory elements...
  16. ncbi request reprint Analysis of apolipoprotein A5, c3, and plasma triglyceride concentrations in genetically engineered mice
    Nadine Baroukh
    Department of Genome Sciences, Lawrence Berkeley National Laboratory, Berkeley, Calif 94720, USA
    Arterioscler Thromb Vasc Biol 24:1297-302. 2004
    ..In humans, common polymorphisms in both genes have also been associated with plasma triglyceride concentrations. These similar findings raised the issue of the relationship between these 2 genes and altered triglycerides...
  17. ncbi request reprint Phylo-VISTA: interactive visualization of multiple DNA sequence alignments
    Nameeta Shah
    Center for Image Processing and Integrated Computing, Department of Computer Science, One Shields Avenue, University of California, Davis, CA 95616 8562, USA
    Bioinformatics 20:636-43. 2004
    ..To be efficient these visualization algorithms must support the ability to accommodate consistently a wide range of evolutionary distances in a comparison framework based upon phylogenetic relationships...
  18. ncbi request reprint Comparative and functional analysis of cardiovascular-related genes
    Jan Fang Cheng
    Department of Genome Sciences, MS 84 171, One Cyclotron Road, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
    Pharmacogenomics 4:571-82. 2003
    ..These data have provided a glimpse into the variety of possible insights from deep vertebrate sequence comparisons and the identification of putative gene regulatory elements...
  19. ncbi request reprint The amphioxus genome and the evolution of the chordate karyotype
    Nicholas H Putnam
    Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA
    Nature 453:1064-71. 2008
    ..These genome-scale events shaped the vertebrate genome and provided additional genetic variation for exploitation during vertebrate evolution...
  20. pmc Human-specific gain of function in a developmental enhancer
    Shyam Prabhakar
    Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
    Science 321:1346-50. 2008
    ....
  21. ncbi request reprint Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons
    Qian Fei Wang
    Genome Sciences Department, Lawrence Berkeley National Laboratory, CA 94720, USA
    Hum Mol Genet 13:1049-56. 2004
    ....
  22. pmc Close sequence comparisons are sufficient to identify human cis-regulatory elements
    Shyam Prabhakar
    Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Genome Res 16:855-63. 2006
    ..Lastly, we determined that, in addition to strength of conservation, genomic location and/or density of surrounding conserved elements must also be considered in selecting candidate enhancers for in vivo testing at embryonic time points...
  23. pmc ChIP-Seq identification of weakly conserved heart enhancers
    Matthew J Blow
    Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA
    Nat Genet 42:806-10. 2010
    ..These results provide evidence for a large population of poorly conserved heart enhancers and suggest that the evolutionary conservation of embryonic enhancers can vary depending on tissue type...
  24. pmc Genomic views of distant-acting enhancers
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Nature 461:199-205. 2009
    ..Genome-wide approaches to their discovery and functional characterization are now available and provide a growing knowledge base for the systematic exploration of their role in human biology and disease susceptibility...
  25. pmc Predicting tissue-specific enhancers in the human genome
    Len A Pennacchio
    Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Genome Res 17:201-11. 2007
    ..These results indicate the power of combining complementary genomic data sets as an initial computational foray into a global view of tissue-specific gene regulation in vertebrates...
  26. ncbi request reprint Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants
    Itamar Grosskopf
    Department of Medicine, School of Medicine, Stanford University, California, USA
    Arterioscler Thromb Vasc Biol 25:2573-9. 2005
    ..ApoAV, a newly discovered apoprotein, affects plasma triglyceride level. To determine how this occurs, we studied triglyceride-rich lipoprotein (TRL) metabolism in mice deficient in apoAV...
  27. ncbi request reprint In vivo characterization of a vertebrate ultraconserved enhancer
    Francis Poulin
    Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA
    Genomics 85:774-81. 2005
    ....
  28. ncbi request reprint A PYY Q62P variant linked to human obesity
    Nadav Ahituv
    Genomics Division, One Cyclotron Road, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
    Hum Mol Genet 15:387-91. 2006
    ..Taken together, these results are the first to support that rare sequence variants within PYY can influence human susceptibility to obesity...
  29. ncbi request reprint Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene
    Nadine Baroukh
    Genomics Division, Lawrence Berkeley National Laboratory, MS 84 171, One Cyclotron Road, Berkeley, California 94720, USA
    Mamm Genome 16:91-5. 2005
    ....
  30. pmc Comparative genomic analysis as a tool for biological discovery
    Marcelo A Nobrega
    Genome Sciences Department, Lawrence Berkeley National Laboratory, One Cyclotron Road, Berkeley, CA 94720, USA
    J Physiol 554:31-9. 2004
    ..We also discuss emerging concepts as this field matures, such as how to properly select which species for comparison, which may differ significantly between independent studies...
  31. ncbi request reprint The sequence and analysis of duplication-rich human chromosome 16
    Joel Martin
    DOE Joint Genome Institute, 2800 Mitchell Avenue, Walnut Creek, California 94598, USA
    Nature 432:988-94. 2004
    ....
  32. pmc Enhancer identification through comparative genomics
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
    Semin Cell Dev Biol 18:140-52. 2007
    ..It is anticipated that cardiac-related genes and the identification of their distant-acting transcriptional enhancers are particularly poised to benefit from these modern capabilities...
  33. pmc Medical sequencing at the extremes of human body mass
    Nadav Ahituv
    Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
    Am J Hum Genet 80:779-91. 2007
    ..Together, these data suggest that multiple rare alleles contribute to obesity in the population and provide a medical sequencing-based approach to detect them...
  34. pmc Functional autonomy of distant-acting human enhancers
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720 USA
    Genomics 93:509-13. 2009
    ..These data indicate that human developmental enhancers are highly modular and functionally autonomous and suggest that genomic enhancer shuffling may have contributed to the evolution of complex gene expression patterns in vertebrates...
  35. pmc ChIP-seq accurately predicts tissue-specific activity of enhancers
    Axel Visel
    Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
    Nature 457:854-8. 2009
    ....
  36. pmc Deletion of ultraconserved elements yields viable mice
    Nadav Ahituv
    Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, United States of America
    PLoS Biol 5:e234. 2007
    ..These results, while not inclusive of all the possible phenotypic impact of the deleted sequences, indicate that extreme sequence constraint does not necessarily reflect crucial functions required for viability...
  37. pmc Lack of support for the association between GAD2 polymorphisms and severe human obesity
    Michael M Swarbrick
    Diabetes Center, University of California, San Francisco, California, USA
    PLoS Biol 3:e315. 2005
    ....
  38. pmc Lack of MEF2A mutations in coronary artery disease
    Li Weng
    US Department of Energy, Joint Genome Institute, Walnut Creek, California, USA
    J Clin Invest 115:1016-20. 2005
    ..These studies support that MEF2A mutations are not a common cause of CAD in white people and argue strongly against a role for the MEF2A 21-bp deletion in autosomal dominant CAD...
  39. pmc The amphioxus genome illuminates vertebrate origins and cephalochordate biology
    Linda Z Holland
    Marine Biology Research Division, Scripps Institution of Oceanography, La Jolla, California 92093 0202, USA
    Genome Res 18:1100-11. 2008
    ..Our results indicate that the amphioxus genome is elemental to an understanding of the biology and evolution of nonchordate deuterostomes, invertebrate chordates, and vertebrates...
  40. ncbi request reprint Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels
    Wai Man R Wong
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, UK
    Circ Res 92:969-75. 2003
    ..90+/-0.12 mg/dL) (P=0.035). These results demonstrate that genetic variation in and around APOA4, independent of the effects of triglyceride, is associated with risk of CHD and apoAIV levels, supporting an antiatherogenic role for apoAIV...
  41. ncbi request reprint The DNA sequence and biology of human chromosome 19
    Jane Grimwood
    Stanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Avenue, Palo Alto, California 94304, USA
    Nature 428:529-35. 2004
    ....
  42. ncbi request reprint Apolipoprotein AV accelerates plasma hydrolysis of triglyceride-rich lipoproteins by interaction with proteoglycan-bound lipoprotein lipase
    Martin Merkel
    Department of Internal Medicine IUniversity Hospital Hamburg Eppendorf, 20246 Hamburg, Germany
    J Biol Chem 280:21553-60. 2005
    ..A direct interaction between LPL and apoAV was found by ligand blotting. It is proposed, that apoAV reduces triglyceride levels by guiding VLDL and chylomicrons to proteoglycan-bound LPL for lipolysis...
  43. pmc Insulin-mediated down-regulation of apolipoprotein A5 gene expression through the phosphatidylinositol 3-kinase pathway: role of upstream stimulatory factor
    Maxime Nowak
    Parc Eurasanté Université de Lille 2, 885 Ave Eugène Avinée, 59120 Loos, France
    Mol Cell Biol 25:1537-48. 2005
    ..The effect of exogenous hyperinsulinemia in men showed a decrease in the plasma ApoAV level. These results suggest a potential contribution of the APOA5 gene in hypertriglyceridemia associated with hyperinsulinemia...
  44. ncbi request reprint The DNA sequence and comparative analysis of human chromosome 5
    Jeremy Schmutz
    Stanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Ave, Palo Alto, California 94304, USA
    Nature 431:268-74. 2004
    ..These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy...
  45. ncbi request reprint The liver X receptor ligand T0901317 down-regulates APOA5 gene expression through activation of SREBP-1c
    Heidelinde Jakel
    Departement d Atherosclerose, UR545 INSERM, Institut Pasteur de Lille and Faculté de Pharmacie de Lille, 1 rue du Pr Calmette BP 245, 59019 Lille Cedex, France, Genfit SA, Loos F 59120, France
    J Biol Chem 279:45462-9. 2004
    ....
  46. pmc Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia
    Sophie Eichenbaum-Voline
    Genomic and Molecular Medicine Group, Medical Research Council Clinical Sciences Centre, Hammersmith Hospital, London, UK
    Arterioscler Thromb Vasc Biol 24:167-74. 2004
    ....
  47. ncbi request reprint Mechanism of triglyceride lowering in mice expressing human apolipoprotein A5
    Jamila Fruchart-Najib
    Departement d Atherosclerose, UR 545 INSERM, Institut Pasteur de Lille et Université de Lille II, 1 rue du Pr Calmette BP 245, 59019 Lille Cedex, France
    Biochem Biophys Res Commun 319:397-404. 2004
    ..This shift of apoAV in VLDL appears to limit the increase of triglyceride by activating the lipoprotein lipase...
  48. ncbi request reprint Apolipoprotein A5, a crucial determinant of plasma triglyceride levels, is highly responsive to peroxisome proliferator-activated receptor alpha activators
    Ngoc Vu-Dac
    Departement d Atherosclerose, U 545 INSERM, Institut Pasteur de Lille and Faculté de Pharmacie de Lille, 1 rue Calmette BP 245, 59019 Lille Cedex, France
    J Biol Chem 278:17982-5. 2003
    ..These findings demonstrate that APOA5 is a highly responsive peroxisome proliferator-activated receptor alpha target gene and support its role as a major mediator for how fibrates reduce plasma triglycerides in humans...
  49. pmc A common allele on chromosome 9 associated with coronary heart disease
    Ruth McPherson
    Division of Cardiology, University of Ottawa Heart Institute, Ottawa K1Y4W7, Canada
    Science 316:1488-91. 2007
    ..Homozygotes for the risk allele make up 20 to 25% of Caucasians and have a approximately 30 to 40% increased risk of CHD...
  50. pmc Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment
    Christophe Marcais
    Laboratoire de Biochimie, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Pierre Benite Cedex, France
    J Clin Invest 115:2862-9. 2005
    ..Our observations strongly support in humans a role for APOA5 in lipolysis regulation and in familial hyperchylomicronemia...
  51. pmc Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
    Gregory V Kryukov
    Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02125, USA
    Am J Hum Genet 80:727-39. 2007
    ..Our results provide a justification for these types of candidate-gene (pathway) association studies and imply that mutation-selection balance may be a feasible evolutionary mechanism underlying some common diseases...
  52. pmc Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
    Stefano Romeo
    Donald W Reynolds Cardiovascular Clinical Research Center, the Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA
    Nat Genet 39:513-6. 2007
    ..Thus, resequencing of ANGPTL4 in a multiethnic population allowed analysis of the phenotypic effects of both rare and common variants while taking advantage of genetic variation arising from ethnic differences in population history...
  53. ncbi request reprint Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides
    Philippa J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University Street, London WC1E 6JJ, UK
    Hum Mol Genet 11:3039-46. 2002
    ..The molecular mechanisms for these effects remain to be determined...
  54. ncbi request reprint Transcriptional regulation of apolipoprotein A5 gene expression by the nuclear receptor RORalpha
    Annelise Genoux
    Departement d Atherosclerose, U 545 INSERM, Institut Pasteur de Lille and Faculté de Pharmacie de Lille, Lille Cedex, France
    Arterioscler Thromb Vasc Biol 25:1186-92. 2005
    ..In the present study, we identified the retinoic acid receptor-related orphan receptor-alpha (RORalpha) as a regulator of human APOA5 gene expression...
  55. ncbi request reprint Identification of a novel enhancer of brain expression near the apoE gene cluster by comparative genomics
    Ping Zheng
    Laboratory of Biochemical Genetics and Metabolism, The Rockefeller University, New York, NY 10021, USA
    Biochim Biophys Acta 1676:41-50. 2004
    ..These studies demonstrate that comparative sequence analysis is a successful strategy to predict candidate regulatory regions in vivo, although they do not imply that this element controls apoE expression physiologically...
  56. pmc Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11
    Michael Olivier
    Human and Molecular Genetics Center, Department of Physiology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    Genomics 83:912-23. 2004
    ..These results highlight the complex genetic relationship between APOA5 and APOC3 and support the notion that APOA5 represents an independent risk gene affecting plasma triglyceride concentrations in humans...
  57. ncbi request reprint Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1)
    Megan K Houseweart
    Department of Genetics, School of Medicine, Stanford University, Stanford, California 94305, USA
    J Neurobiol 56:315-27. 2003
    ..They also suggest that the identification of cathepsin B substrates may further reveal the molecular basis for EPM1...
  58. ncbi request reprint Human cathepsin L rescues the neurodegeneration and lethality in cathepsin B/L double-deficient mice
    Lisa Sevenich
    Institut für Molekulare Medizin und Zellforschung, Albert Ludwigs Universitat Freiburg, D 79104 Freiburg, Germany
    Biol Chem 387:885-91. 2006
    ..Human CTSL is expressed in the brain of these compound mutants, predominantly in neurons of the cerebral cortex and in Purkinje cells of the cerebellum, where it appears to prevent neuronal cell death...
  59. ncbi request reprint Cathepsin L is required for endothelial progenitor cell-induced neovascularization
    Carmen Urbich
    Molecular Cardiology, Department of Internal Medicine III, University of Frankfurt, Theodor Stern Kai 7, 60590 Frankfurt, Germany
    Nat Med 11:206-13. 2005
    ..We concluded that CathL has a critical role in the integration of circulating EPC into ischemic tissue and is required for EPC-mediated neovascularization...
  60. ncbi request reprint Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Bhaswati Pandit
    Center for Molecular Cardiology, Department of Pediatrics and Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    Nat Genet 39:1007-12. 2007
    ..Our findings further implicate increased RAS signaling in pathological cardiomyocyte hypertrophy...
  61. ncbi request reprint Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2
    Anne M Slavotinek
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, Room U585P, 533 Parnassus St, San Francisco, CA 94143 0748, USA
    Eur J Hum Genet 14:999-1008. 2006
    ..In addition, there is evidence for substantial genetic heterogeneity in CDH and diaphragmatic hernias can be non-penetrant in patients who have deletions involving CDH-critical regions...
  62. doi request reprint Glucose regulates the expression of the apolipoprotein A5 gene
    Maxime Nowak
    Institut Pasteur de Lille, Departement d Atherosclerose, Lille, France
    J Mol Biol 380:789-98. 2008
    ..We demonstrate that the APOA5 gene is up regulated by d-glucose and USF through phosphatase activation. These findings may provide a new cross-talk between glucose and lipid metabolism...

Research Grants11

  1. Genetic and Genomic Analysis of apoAV
    Len Pennacchio; Fiscal Year: 2006
    ..abstract_text> ..
  2. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2009
    ..Such a community resource is expected to significantly fill our void in gene regulatory annotation of the human genome and to decipher their mutation as a cause of human disease. . ..
  3. A High-Resolution Enhancer Atlas of the Developing Forebrain
    LEN ALEXANDER PENNACCHIO; Fiscal Year: 2010
    ..These studies are likely to have implications in defining the role of these switches for normal brain function and how they go awry in human brain diseases. ..
  4. A High-Resolution Enhancer Atlas of the Developing Forebrain
    Len Pennacchio; Fiscal Year: 2009
    ..These studies are likely to have implications in defining the role of these switches for normal brain function and how they go awry in human brain diseases. ..
  5. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2009
    ..Such a community resource is expected to significantly fill our void in gene regulatory annotation of the human genome and to decipher their mutation as a cause of human disease. . ..
  6. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2007
    ..Such a community resource is expected to significantly fill our void in gene regulatory annotation of the human genome and to decipher their mutation as a cause of human disease. . ..
  7. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2006
    ..Such a community resource is expected to significantly fill our void in gene regulatory annotation of the human genome and to decipher their mutation as a cause of human disease. . ..
  8. Generation of an In Vivo Human Genome Enhancer Dataset
    LEN ALEXANDER PENNACCHIO; Fiscal Year: 2010
    ..The identification of positive signatures of enhancers in vivo is expected to significantly fill our void in gene regulatory annotation of the human genome and to decipher their mutation as a cause of human disease. ..