OCA2

Summary

Gene Symbol: OCA2
Description: oculocutaneous albinism II
Alias: BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, PED, SHEP1, P protein, eye color 2 (central brown), eye color 3 (brown), hair color 3 (brown), melanocyte-specific transporter protein, oculocutaneous albinism II (pink-eye dilution homolog, mouse), pink-eyed dilution protein homolog, total brown iris pigmentation
Species: human

Top Publications

  1. ncbi Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
    Manfred Kayser
    Department of Forensic Molecular Biology, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands
    Am J Hum Genet 82:411-23. 2008
  2. ncbi Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method
    W Branicki
    Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, Krakow, Poland
    Ann Hum Genet 72:184-92. 2008
  3. ncbi Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma
    Anne Sophie Jannot
    Unite INSERM 535 Génétique Epidémiologique et Structure des Populations Humaines, Hopital Paul Brousse, Villejuif, France
    Eur J Hum Genet 13:913-20. 2005
  4. ncbi A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Am J Hum Genet 82:424-31. 2008
  5. ncbi A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
    David L Duffy
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Hum Genet 80:241-52. 2007
  6. ncbi A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    Invest Ophthalmol Vis Sci 49:868-72. 2008
  7. ncbi P gene as an inherited biomarker of human eye color
    Timothy R Rebbeck
    Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Epidemiol Biomarkers Prev 11:782-4. 2002
  8. ncbi Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico
    Pedro J Santiago Borrero
    Department of Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico
    J Invest Dermatol 126:85-90. 2006
  9. ncbi A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)
    Atsushi Kato
    Department of Dermatology, Osaka City University Graduate School of Medicine, 1 4 3, Asahimachi Abenoku, Osaka 545 8585, Japan
    J Dermatol Sci 31:189-92. 2003
  10. ncbi MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)
    Richard A King
    Department of Genetics, University of Minnesota, Minneapolis, MN, 55455, USA
    Am J Hum Genet 73:638-45. 2003

Research Grants

  1. Flavoenzymes in Pyrimidine Metabolism
    Bruce A Palfey; Fiscal Year: 2010
  2. BIOGENESIS OF MELANOSOMES
    Seth J Orlow; Fiscal Year: 2010
  3. BIOGENESIS OF MELANOSOMES
    Seth Orlow; Fiscal Year: 2009
  4. Missing Mutations in Oculocutaneous and Ocular Albinism
    Richard Spritz; Fiscal Year: 2006
  5. Center for Molecular & Cellular Studies of Ped Disease
    JOSEPH ST GEME; Fiscal Year: 2007
  6. Use of Beta-Lapachone for Lung Cancer Chemotherapy
    David Boothman; Fiscal Year: 2007
  7. Use of Beta-Lapachone for Lung Cancer Chemotherapy
    David Boothman; Fiscal Year: 2007
  8. GENETIC STUDIES OF HUMAN PIGMENTATION DISORDERS
    Richard Spritz; Fiscal Year: 2000
  9. The function of proteins associated with albinism
    MURRAY BRILLIANT; Fiscal Year: 2005
  10. BIOGENESIS OF MELANOSOMES
    Seth Orlow; Fiscal Year: 2007

Detail Information

Publications169 found, 100 shown here

  1. ncbi Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
    Manfred Kayser
    Department of Forensic Molecular Biology, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands
    Am J Hum Genet 82:411-23. 2008
    ..Single nucleotide polymorphisms (SNPs) in the HERC2 gene and, to a lesser extent, in the neighboring OCA2 gene were independently associated to iris color variation. OCA2 has been implicated in iris color previously...
  2. ncbi Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method
    W Branicki
    Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, Krakow, Poland
    Ann Hum Genet 72:184-92. 2008
    ..A number of genes are considered to affect normal variation in human pigmentation. Recent studies have indicated that OCA2 is the crucial gene involved in the high variation of iris colour present among populations of European descent...
  3. ncbi Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma
    Anne Sophie Jannot
    Unite INSERM 535 Génétique Epidémiologique et Structure des Populations Humaines, Hopital Paul Brousse, Villejuif, France
    Eur J Hum Genet 13:913-20. 2005
    The occuloalbinism 2 (OCA2) gene, localized at 15q11, encodes a melanosomal transmembrane protein that is involved in the most common form of human occulo-cutaneous albinism, a human genetic disorder characterized by fair pigmentation and ..
  4. ncbi A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Am J Hum Genet 82:424-31. 2008
    ..demonstrated that haplotypes of three single nucleotide polymorphisms (SNPs) within the first intron of the OCA2 gene are extremely strongly associated with variation in human eye color...
  5. ncbi A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
    David L Duffy
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Hum Genet 80:241-52. 2007
    We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color...
  6. ncbi A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    Invest Ophthalmol Vis Sci 49:868-72. 2008
    ..a clinically mild presentation of oculocutaneous albinism (OCA), due to mutations in either the TYR (OCA1) or OCA2 (P) genes...
  7. ncbi P gene as an inherited biomarker of human eye color
    Timothy R Rebbeck
    Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Epidemiol Biomarkers Prev 11:782-4. 2002
    ..The P gene is located on chromosome 15q11.2-q12, which is also the location of a putative eye pigmentation gene (EYCL3) inferred to exist by linkage analysis...
  8. ncbi Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico
    Pedro J Santiago Borrero
    Department of Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico
    J Invest Dermatol 126:85-90. 2006
    ..We describe screening 229 Puerto Rican OCA patients for these mutations, and for mutations in the OCA2 gene. We found the HPS1 mutation in 42.8% of cases, the HPS3 deletion in 17%, the TYR G47D mutation in 3...
  9. ncbi A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)
    Atsushi Kato
    Department of Dermatology, Osaka City University Graduate School of Medicine, 1 4 3, Asahimachi Abenoku, Osaka 545 8585, Japan
    J Dermatol Sci 31:189-92. 2003
    Oculocutaneous albinism type II (OCA2) is an autosomal recessively inherited disorder, characterized by white hair and skin, and loss of pigment in the eyes. Mutations in P gene have been shown to result in OCA2...
  10. ncbi MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)
    Richard A King
    Department of Genetics, University of Minnesota, Minneapolis, MN, 55455, USA
    Am J Hum Genet 73:638-45. 2003
    ..Mutations in the P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2) in all eight, and mutations in the MC1R gene were responsible for the red (rather than yellow/blond) hair in the ..
  11. ncbi Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa
    R Kerr
    Department of Human Genetics, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa
    Hum Mutat 15:166-72. 2000
    ..OCA type 2 (tyrosinase-positive) is the most common recessively inherited disorder among southern African Blacks. OCA2 is also seen in southern African Caucasoids, but is less frequent...
  12. ncbi Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci
    Anthony L Cook
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
    J Invest Dermatol 129:392-405. 2009
    Single nucleotide polymorphisms (SNPs) within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P genes have been associated with natural variation of pigmentation traits in human populations...
  13. ncbi Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival
    Elizabeth M Azzato
    J Natl Cancer Inst 102:650-62. 2010
    ....
  14. ncbi A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation
    Jiali Han
    Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, and Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 4:e1000074. 2008
    ..52). One variant in the MATP gene was associated with hair color. A variant in the HERC2 gene upstream of the OCA2 gene showed the strongest and independent association with hair color compared with other SNPs in this region, ..
  15. ncbi Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes
    I Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Biochem Genet 45:535-42. 2007
    ..G1129A (R163Q) at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, were investigated in a total of 1,809 individuals in 16 populations from ..
  16. ncbi Multilocus OCA2 genotypes specify human iris colors
    Tony Frudakis
    DNAPrint Genomics, Inc, 1621 W University Pkwy, Sarasota, FL 34243, USA
    Hum Genet 122:311-26. 2007
    ..Recent studies have shown that OCA2 polymorphism underlies most of the natural variability in human iris pigmentation but to date, only a few ..
  17. ncbi Genetic determinants of hair, eye and skin pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:1443-52. 2007
    ..3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.
  18. ncbi Organization and sequence of the human P gene and identification of a new family of transport proteins
    S T Lee
    Department of Medical Genetics, University of Wisconsin School of Medicine, Madison 53706, USA
    Genomics 26:354-63. 1995
    ..Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice...
  19. ncbi Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism
    Karen Grønskov
    edical Genetics Laboratory Center, Kennedy Center, Glostrup, Denmark
    Invest Ophthalmol Vis Sci 50:1058-64. 2009
    ..The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism...
  20. ncbi Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches
    Markus N Preising
    Regensburg University Medical Center, Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics, Franz Josef Strauss, Regensburg, Germany
    Mol Vis 13:1851-5. 2007
    ..To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported...
  21. ncbi A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831
    Nature 361:72-6. 1993
    ..The human P gene corresponds to the D15S12 locus within the chromosome segment 15q11-q13, which is typically deleted in patients with Prader-Willi and ..
  22. ncbi Skin pigmentation, biogeographical ancestry and admixture mapping
    Mark D Shriver
    Department of Anthropology, Penn State University, 409 Carpenter Bld, University Park, PA 16802, USA
    Hum Genet 112:387-99. 2003
    ..We have also applied two methods of admixture mapping to test for the effects of three candidate genes (TYR, OCA2, MC1R) on pigmentation...
  23. ncbi Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
    S T Lee
    Department of Medical Genetics, University of Wisconsin, Madison 53706
    N Engl J Med 330:529-34. 1994
    ..The P protein is a transmembrane polypeptide that may transport small molecules such as tyrosine, the precursor of melanin...
  24. ncbi Oculocutaneous albinism
    Karen Grønskov
    Kennedy Center, National Research Center for Genetics, visual Impairment and Mental Retardation, GL, Landevej 7, 2600 Glostrup, Denmark
    Orphanet J Rare Dis 2:43. 2007
    ..the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time...
  25. ncbi Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4
    Gertrude E Costin
    Pigment Cell Biology Section, Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    J Cell Sci 116:3203-12. 2003
    ..The P protein and MATP have 12 transmembrane regions and are predicted to function as transporters...
  26. ncbi Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community
    Helene C Johanson
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia
    J Hum Genet 55:103-11. 2010
    Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene...
  27. ncbi Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation
    G Stevens
    Department of Human Genetics, School of Pathology, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg
    Hum Genet 99:523-7. 1997
    Oculocutaneous albinism (OCA2) is the most common autosomal recessive disorder in the South African Negroid population, occurring with a prevalence of 1/3900 individuals. The OCA2 locus, P, has been mapped to chromosome 15q11-q13 and a 2...
  28. ncbi Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient
    Caroline Rooryck
    Service de Genetique Medicale, Centre Hospitalier Universitaire, Bordeaux, France
    Pigment Cell Res 19:239-42. 2006
    ..heterogeneous autosomal recessive disorder with mutations identified in several genes: OCA1 (tyrosinase, TYR), OCA2 (OCA2), OCA3 (tyrosinase-related protein 1, TYRP1), and OCA4 (membrane-associated transporter protein, MATP)...
  29. ncbi Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
    Diego J Hoyle
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
    Pigment Cell Melanoma Res 24:275-81. 2011
    ..b>OCA2, the product of the gene defective in oculocutaneous albinism type 2, is a melanosomal membrane protein with ..
  30. ncbi Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene
    P Manga
    Department of Human Genetics, South African Institute for Medical Research, Johannesburg, South Africa
    Am J Hum Genet 61:1095-101. 1997
    ..There are three forms that account for almost all OCA types in this region. Tyrosinase-positive OCA (OCA2), which is the most common, affects approximately 1/3,900 newborns and has a carrier frequency of approximately 1/..
  31. ncbi [Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations]
    Hong yi Li
    Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat Sen University, Guangzhou 510080, China
    Zhonghua Yi Xue Za Zhi 87:1123-5. 2007
    To investigate the genotype of oculocutaneous albinism type II (OCA2) and perform prenatal gene diagnosis for OCA2.
  32. ncbi Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families
    Li Hongyi
    Department of Medical Genetics, Zhongshan Medical College, Sun Yat Sen University, Guangzhou, Guangdong Province, China
    Prenat Diagn 27:502-6. 2007
    The prenatal genetic diagnosis and counseling of oculocutaneous albinism type II (OCA2) by detecting mutations in the OCA2 gene
  33. ncbi High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients
    Caroline Rooryck
    Laboratoire de Génétique Humaine EA4137, Universite Victor Segalen Bordeaux 2, 146 rue Leo Saignat, 33076 Bordeaux, France
    Hum Genet 129:199-208. 2011
    Oculocutaneous albinism type 2 (OCA2) represents about 30% of OCA worldwide...
  34. ncbi Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Leg Med (Tokyo) 13:215-7. 2011
    Two mutants, OCA2∗481Thr (c.1441G>A, p.Ala481Thr) and OCA2∗615Arg (c.1844A>G, p.His615Arg), in the OCA2 (oculocutaneous albinism type II) gene are associated with hypopigmentation in East Asians...
  35. ncbi [DNA-based diagnosis of Angelman syndrome and Prader-Willi syndrome]
    S Saitoh
    Department of Human Genetics, Nagasaki University School of Medicine
    No To Hattatsu 25:501-7. 1993
    ..repeat polymorphism (DNRP) analyses revealed that 67% of AS patients have DNA deletions ranging from D15S9 to D15S12 loci. An exception was 3 sib cases whose deletion involved only 2 loci, D15S10 and GABRB3...
  36. ncbi Determinants of antipyretic misuse in children up to 5 years of age: a cross-sectional study
    Natalya Bilenko
    The S Daniel Abraham International Center for Health and Nutrition, Ben Gurion University of the Negev, Beer Sheva, Israel
    Clin Ther 28:783-93. 2006
    ....
  37. ncbi [Dynamic study on effect of Chinese medicine compound Yiliuyin on angiogenesis in transplanted S180 tumor of mouse]
    Zhipeng Han
    Department of Immunology, Institute of Basic Medical Science, Hebei Medical University, Shijiazhuang 050017, China
    Zhongguo Zhong Yao Za Zhi 34:212-6. 2009
    ....
  38. ncbi Characterization of OCA2 cDNA in different porcine breeds and analysis of its potential effect on skin pigmentation in a red Iberian strain
    A Fernandez
    Departamento de Mejora Genética Animal, SGIT INIA, Crta Coruna km 7, 28040 Madrid, Spain
    Anim Genet 37:166-70. 2006
    Although the function of the OCA2 gene product has not been totally clarified, variation in OCA2 has been associated with skin and hair pigmentation in human and mouse...
  39. ncbi Albinism (OCA2) in Amerindians
    Charles M Woolf
    School of Life Sciences, Arizona State University, Tempe, Arizona 85287 4501, USA
    Am J Phys Anthropol . 2005
    ..2-12 results in tyrosinase-positive albinism (OCA2)...
  40. ncbi Analysis of litter size and weight in mice differing in Ped gene phenotype and the Q region of the H-2 complex
    C M Warner
    Department of Biology, Northeastern University, Boston, MA 02115
    J Reprod Immunol 19:303-13. 1991
    A gene has been described, Ped (Preimplantation embryo development), that influences the rate of cleavage of preimplantation mouse embryos...
  41. ncbi Functional adaptation of venous smooth muscle response to vasoconstriction in proximal, distal, and varix segments of varicose veins
    Joseph D Raffetto
    Division of Vascular and Endovascular Surgery, Brigham and Women s Hospital, Boston, Mass 02115, USA
    J Vasc Surg 51:962-71. 2010
    ....
  42. ncbi Angiographic and flow patterns of retinal choroidal anastomoses in age-related macular degeneration with occult choroidal neovascularization
    Ruth Axer-Siegel
    Department of Ophthalmology, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel
    Ophthalmology 109:1726-36. 2002
    ....
  43. ncbi Antibiotic resistance patterns of uropathogens in pediatric emergency department patients
    Thomas George McLoughlin
    Department of Emergency Medicine, University of Florida, Jacksonville, FL, USA
    Acad Emerg Med 10:347-51. 2003
    To evaluate the prevalence of resistance of the various urinary tract infection (UTI) pathogens obtained from patients in an urban pediatric emergency department (PED), and to identify risk factors for infection with resistant strains.
  44. ncbi Coding of pediatric behavioral and mental disorders
    Jerry L Rushton
    Child Health Evaluation and Research Unit, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109 0456, USA
    Pediatrics 110:e8. 2002
    ..However, very little information is available on how physicians who care for children approach diagnosis and coding dilemmas for behavioral and mental disorders, which often present unique additional challenges...
  45. ncbi A health promotion intervention for families in a Medicaid managed care plan
    V T Chande
    Department of Pediatrics, University of Pittsburgh, Children s Hospital of Pittsburgh, PA, USA
    Acad Emerg Med 6:823-7. 1999
    To determine whether implementation of an intervention based on a model of health promotion will encourage patients to seek care from their primary care provider (PCP) and reduce visits to the pediatric ED (PED) for minor illness.
  46. ncbi Genetics and imaging to assess oocyte and preimplantation embryo health
    C M Warner
    Department of Biology, Northeastern University, Boston, MA 02115, USA
    Reprod Fertil Dev 16:729-41. 2004
    ..A major gene that regulates the rate of preimplantation development is the preimplantation embryo development (Ped) gene, discovered in our laboratory...
  47. ncbi [Adjacent segment degeneration after lumbosacral fusion in spondylolisthesis: a retrospective radiological and clinical analysis]
    P Zencica
    Ortopedická klinika FN Brno Bohunice
    Acta Chir Orthop Traumatol Cech 77:124-30. 2010
    ..Clinical evaluations included back pain or neurologic symptomatology which emerged later in the post-operative period in patients with adjacent segment degeneration...
  48. ncbi Evaluation of epithelial cell proliferating activity and fibroblast nuclear kariometry in recurrent pterygium treated with mitomycin C
    Gildasio Castello de Almeida Junior
    Departamento de Oftalmologia, Faculdade de Medicina de Sao Jose do Rio Preto, Sao Jose do Rio Preto, SP, Brasil
    Arq Bras Oftalmol 71:568-75. 2008
    ..Ki-67 antigen to evaluate epithelial cell proliferation and fibroblast nuclear kariometry were used to assist treatment evaluation...
  49. ncbi Tracheal intubation practice and maintaining skill competency: survey of pediatric emergency department medical directors
    Joseph D Losek
    Pediatric Department, Medical University of South Carolina, SC 29425, USA
    Pediatr Emerg Care 24:294-9. 2008
    ..The purpose of this survey study was to determine the practice of TI in pediatric emergency departments (PEDs) and the methods used by PED medical directors to maintain TI competency among PED physicians.
  50. ncbi Lower Miocene stratigraphy along the Panama Canal and its bearing on the Central American Peninsula
    Michael Xavier Kirby
    Center for Tropical Paleoecology and Archaeology, Smithsonian Tropical Research Institute, Balboa, Republic of Panama
    PLoS ONE 3:e2791. 2008
    ..of a stratigraphic dispute: To wit, is the terrestrial Cucaracha Formation older or younger than the marine La Boca Formation? Previous stratigraphic studies of the Panama Canal Basin have suggested that the Cucaracha Formation ..
  51. ncbi Survey of academic pediatric emergency departments regarding use of evaluation and management codes
    Joseph D Losek
    Division of Pediatric Emergency Critical Care, Medical University of South Carolina, Charleston, USA
    Pediatr Emerg Care 21:578-81. 2005
    ..to identify factors associated with their use by academic pediatric emergency departments (PEDs), and to compare PED E/M code utilization rates with rates reported by Centers for Medicare and Medicaid Services for general emergency ..
  52. ncbi Optical coherence tomography-measured pigment epithelial detachment height as a predictor for retinal pigment epithelial tears associated with intravitreal bevacizumab injections
    Clement K Chan
    Southern California Desert Retina Consultants, Palm Springs, California 92263, USA
    Retina 30:203-11. 2010
    ..tomography-related factors in age-related macular degeneration eyes with retinal pigment epithelial detachment (PED) that may predispose retinal pigment epithelial (RPE) tears associated with intravitreal bevacizumab injections.
  53. ncbi A novel signaling intermediate, SHEP1, directly couples Eph receptors to R-Ras and Rap1A
    V C Dodelet
    Burnham Institute, La Jolla, California 92037, USA
    J Biol Chem 274:31941-6. 1999
    ..Using a yeast two-hybrid screen, we have identified a novel signaling intermediate, SHEP1 (SH2 domain-containing Eph receptor-binding protein 1), which is expressed in the embryonic and adult brain...
  54. ncbi Morphologic changes in acute central serous chorioretinopathy evaluated by fourier-domain optical coherence tomography
    Hisataka Fujimoto
    Department of Ophthalmology, Osaka University Medical School, Suita, Osaka, Japan
    Ophthalmology 115:1494-500, 1500.e1-2. 2008
    ..To investigate morphologic alterations around fluorescein leakage sites using Fourier-domain optical coherence tomography (FD OCT) in acute central serous chorioretinopathy (CSC)...
  55. ncbi GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
    Yvonne G Weber
    Neurologische Klinik and Institut für Anatomie und Zellbiologie, Universitat Ulm, Ulm, Germany
    J Clin Invest 118:2157-68. 2008
    ..In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations...
  56. ncbi Angiographic lesion of polypoidal choroidal vasculopathy on indocyanine green and fluorescein angiography
    Fumi Gomi
    Department of Ophthalmology, Osaka University Medical School, Yamadaoka, Suita, Japan
    Graefes Arch Clin Exp Ophthalmol 245:1421-7. 2007
    ..The purpose of this study was to evaluate angiographic findings and compare the lesion sizes of PCV on ICGA and FA using confocal scanning laser ophthalmoscopy (SLO) and fundus camera...
  57. ncbi [Clinical experience of percutaneous endoscopic gastrostomy, jejunostomy, duodenostomy in 120 patients]
    Zhi Wei Jiang
    Research Institute of General Surgery, General Hospital of Nanjing Military Area, Nanjing 210002, China
    Zhonghua Wai Ke Za Zhi 43:18-20. 2005
    ..To report clinical experience of percutaneous endoscopic gastrostomy, duodenostomy, jejunostomy in 120 patients, focusing on its technique and indications...
  58. ncbi Computer modeling of patient flow in a pediatric emergency department using discrete event simulation
    Geoffrey R Hung
    Division of Emergency Medicine, Department of Pediatrics, BC Children s Hospital, Vancouver, British Columbia, Canada
    Pediatr Emerg Care 23:5-10. 2007
    ..Accurate predictions of patient flow and resource utilization in the pediatric emergency department (PED) are important in determining what aspects of PED activity could be modified to improve patient flow, reduce ..
  59. ncbi Insertion of long lines in the pediatric emergency department
    A M Arnett
    Department of Pediatric Emergency Medicine, Boston Medical Center, Boston University, Massachusetts 02118, USA
    Pediatr Emerg Care 15:318-21. 1999
    The purpose of this study was: 1) to evaluate the role of the pediatric emergency department (PED) in placing peripherally inserted midline or central catheters (long lines), and 2) to review indications and complications to use this ..
  60. ncbi Fever phobia: a survey of caregivers of children seen in a pediatric emergency department
    Michael P Poirier
    Eastern Virginia Medical School, Children s Hospital of the King s Daughters, Norfolk, 23507, USA
    Clin Pediatr (Phila) 49:530-4. 2010
    Fever continues to be the most common complaint of children seen in a Pediatric Emergency Department (PED). Previous studies have assessed the prevalence of fever phobia in various populations...
  61. ncbi Protein kinase C (PKC)-alpha activation inhibits PKC-zeta and mediates the action of PED/PEA-15 on glucose transport in the L6 skeletal muscle cells
    G Condorelli
    Dipartimento di Biologia e Patologia Cellulare e Molecolare, Federico II University of Naples, Via S. Pansini 5, 80131 Naples, Italy
    Diabetes 50:1244-52. 2001
    Overexpression of the PED/PEA-15 protein in muscle and adipose cells increases glucose transport and impairs further insulin induction...
  62. ncbi Impact of sexual assault nurse examiners on the evaluation of sexual assault in a pediatric emergency department
    Kirsten Bechtel
    Department of Pediatrics, Yale University School of Medicine, and Section of Pediatric Emergency Medicine, Yale New Haven Children s Hospital, New Haven, CT 06504, USA
    Pediatr Emerg Care 24:442-7. 2008
    ..To date, the effectiveness of sexual assault nurse examiners (SANEs) on the evaluation and management of pediatric and adolescent sexual assault victims in a pediatric emergency department (PED) has not been evaluated.
  63. ncbi Posterior lumbar epidural fat as a functional structure? Histologic specificities
    R Beaujeux
    Department of Radiology A, Hpitaux Universitaires de Strasbourg, France
    Spine (Phila Pa 1976) 22:1264-8; discussion 1269. 1997
    ..A topographic and histologic study was done to describe the location of the lumbar epidural fat and to find potential tissular specificities...
  64. ncbi Evaluation of a web-based asynchronous pediatric emergency medicine learning tool for residents and medical students
    Kreg Burnette
    Department of Pediatric Emergency Medicine, University Medical Center, St Rose Dominican Hospital Siena, KB Las Vegas, NV, USA
    Acad Emerg Med 16:S46-50. 2009
    ....
  65. ncbi Intravitreal injection of triamcinolone combined with bevacizumab for choroidal neovascularization associated with large retinal pigment epithelial detachment in age-related macular degeneration
    Leila el Matri
    Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Boulevard 9 avril 1006 Bab saadoun, Tunis, Tunisia
    Graefes Arch Clin Exp Ophthalmol 248:779-84. 2010
    ..triamcinolone acetonide (IVTA) injection with intravitreal bevacizumab (IVB) in treating choroidal neovascularization (CNV) associated with large retinal pigment epithelial detachment (PED) in age-related macular degeneration (AMD).
  66. ncbi A mindfulness-based group psychoeducational intervention targeting sexual arousal disorder in women
    Lori A Brotto
    University of British Columbia, Vancouver, British Columbia, Canada
    J Sex Med 5:1646-59. 2008
    ..In recent years, mindfulness has been incorporated into sex therapy and has been found effective for genital arousal disorder among women with acquired sexual complaints secondary to gynecologic cancer...
  67. ncbi Usefulness of the serum electrolyte panel in the management of pediatric dehydration treated with intravenously administered fluids
    Joe E Wathen
    Department of Pediatrics, Section of Emergency Medicine, University of Colorado Health Sciences Center Children s Hospital, Denver, Colorado, USA
    Pediatrics 114:1227-34. 2004
    ..Our study purpose was to evaluate the usefulness of routinely ordering a SEP in the treatment of dehydrated pediatric patients receiving intravenous fluids (IVFs)...
  68. ncbi The effect of Pediococcus acidilactici on the gut microbiota and immune status of on-growing red tilapia (Oreochromis niloticus)
    R M W Ferguson
    Aquaculture and Fish Nutrition Research Group, School of Marine Science and Engineering, Marine Institute, University of Plymouth, Plymouth, UK
    J Appl Microbiol 109:851-62. 2010
    ..To assess Pediococcus acidilactici as a dietary supplement for on-growing red tilapia (Oreochromis niloticus)...
  69. ncbi Predictors of anti-VEGF-associated retinal pigment epithelial tear using FA and OCT analysis
    Allen Chiang
    Jules Stein Eye Institute, University of California Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA
    Retina 28:1265-9. 2008
    ..tomography (OCT) predictors for retinal pigment epithelial (RPE) tear in eyes with pigment epithelium detachment (PED) associated with neovascular age-related macular degeneration treated with intravitreal vascular endothelial growth ..
  70. ncbi [Nasal foreign body in infants]
    I Claudet
    Service d Urgences Pédiatriques, Hopital des Enfants, Toulouse Cedex 9, France
    Arch Pediatr 16:1245-51. 2009
    Provide a descriptive analysis of children admitted to a tertiary care pediatric emergency department (PED) for a nasal foreign body (NFB) and describe the current knowledge and management of such accidents.
  71. ncbi Effects of supplementary urea-minerals lick block on the kinetics of fibre digestion, nutrient digestibility and nitrogen utilization of low quality roughages
    Yue Ming Wu
    College of Animal Sciences, Zhejiang University, Hangzhou 310029, China
    J Zhejiang Univ Sci B 6:793-7. 2005
    ..RS and hay had similar values in the potential extent of digestion (PED) and digestion rate of PED (kd) of fibrous materials, but the discrete lag time for RS was lower than that for hay...
  72. ncbi Ceftriaxone use in the emergency department: are we doing it right?
    Shabnam Jain
    Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA
    Pediatr Emerg Care 18:259-64. 2002
    To evaluate the patterns of ceftriaxone use in an urban pediatric emergency department (PED) and to determine if overuse exists based on published guidelines for management of febrile infants.
  73. ncbi Streptococcal pharyngitis: impact of a high-sensitivity antigen test on physician outcome
    C A Needham
    Department of Laboratory Medicine, Lahey Clinic, Burlington, Massachusetts, USA
    J Clin Microbiol 36:3468-73. 1998
    ..a walk-in clinic (WIC), primarily saw adult patients, and one clinic, a pediatric and adolescent medicine clinic (PED), primarily saw pediatric patients...
  74. ncbi Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2
    Maider Ibarrola-Villava
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    Exp Dermatol 19:836-44. 2010
    ..The OCA2 gene has emerged as a new and significant determinant of human iris colour variation...
  75. ncbi Prescribing errors in a pediatric emergency department
    Michael L Rinke
    Department of Pediatrics, Johns Hopkins Hospital, Baltimore, MD, USA
    Pediatr Emerg Care 24:1-8. 2008
    To determine the frequency, prescriber, and type of prescribing errors in written in-house orders and ambulatory prescriptions in a pediatric emergency department (PED).
  76. ncbi Rewirable gene regulatory networks in the preimplantation embryonic development of three mammalian species
    Dan Xie
    Department of Bioengineering, University of Illinois at Urbana Champaign, Urbana, Illinois 61801, USA
    Genome Res 20:804-15. 2010
    Mammalian preimplantation embryonic development (PED) is thought to be governed by highly conserved processes...
  77. ncbi Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)
    Rebecca R Bellone
    Department of Biology, University of Tampa, Tampa, FL 33606, USA
    Genetics 179:1861-70. 2008
    ..the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR...
  78. ncbi Inhibition of xenogeneic response in porcine endothelium using RNA interference
    Min Zhu
    Key Laboratory of Organ Transplantation, Ministry of Education Institute of Organ Transplantation, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    Transplantation 79:289-96. 2005
    ..In this study, we use siRNA for silencing of alpha1,3GT with the purpose of reducing expression of the alpha-Gal epitope and subsequently decreasing immunogenicity of porcine endothelial cells...
  79. ncbi Percutaneous endoscopic discectomy for far lateral lumbar disc herniations: prospective study and outcome of 66 patients
    M Sasani
    Neurosurgery Department, VKV American Hospital, Istanbul, Turkey
    Minim Invasive Neurosurg 50:91-7. 2007
    ..Numerous surgical approaches have been described. Percutaneous endoscopic discectomy (PED) is one of the minimally invasive techniques; after mastering this procedure it is a practical method that is used ..
  80. ncbi Pediatric emergency department directors' benchmarking survey: fiscal year 2001
    Kathy N Shaw
    Division of Emergency Medicine, The Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Pediatr Emerg Care 19:143-7. 2003
    ..To answer basic questions, using precise definitions, regarding emergency department (ED) utilization, wait times, services, and attending physician staffing of representative pediatric EDs (PEDs)...
  81. ncbi Polypoidal choroidal vasculopathy: natural history
    Masanobu Uyama
    Department of Ophthalmology, Kansai Medical University, Moriguchi, Osaka, Japan
    Am J Ophthalmol 133:639-48. 2002
    ..The present study was performed to clarify the long-term natural history of polypoidal choroidal vasculopathy (PCV)...
  82. ncbi PED/PEA-15 induces autophagy and mediates TGF-beta1 effect on muscle cell differentiation
    S Iovino
    Department of Cellular and Molecular Biology and Pathology, University of Naples Federico II, Italy
    Cell Death Differ 19:1127-38. 2012
    ..of the autophagy-promoting protein phosphoprotein enriched in diabetes/phosphoprotein enriched in astrocytes (PED/PEA-15) progressively declines during L6 and C2C12 skeletal muscle cell differentiation...
  83. ncbi Pandemic influenza extension areas in an urban pediatric hospital
    Rachel L Charney
    Department of Pediatrics, Saint Louis University School of Medicine, St Louis, Missouri 63104, USA
    Prehosp Disaster Med 27:75-80. 2012
    ..The development and results of a tiered surge plan to care for these patients at a Pediatric Emergency Department (PED) were studied...
  84. ncbi Bacteremia in feverish children presenting to the emergency department: a retrospective study and literature review
    Silvia Bressan
    Department of Pediatrics, University of Padova, Italy
    Acta Paediatr 101:271-7. 2012
    ..in well-appearing children with fever without source (FWS) presenting to the pediatric emergency department (PED), after pneumococcal conjucate vaccine - 7 valent (PCV-7) widespread introduction in the Veneto region of north-..
  85. ncbi Implementation of adapted PECARN decision rule for children with minor head injury in the pediatric emergency department
    Silvia Bressan
    Department of Pediatrics, University of Padova, Padova, Italy
    Acad Emerg Med 19:801-7. 2012
    ..at very low risk of clinically important traumatic brain injuries (ciTBI) in the pediatric emergency department (PED)...
  86. ncbi Expression and purification of the D4 region of PLD1 and characterization of its interaction with PED-PEA15
    Francesca Viparelli
    Istituto di Biostrutture e Bioimmagini IBB, CNR, Via Mezzocannone 16, 80134 Napoli, Italy
    Protein Expr Purif 59:302-8. 2008
    ..PLD1 interacts with the small phosphoprotein PED-PEA15 by an unknown mechanism that, by enhancing PLD1 stability, apparently increases its enzymatic activity; the ..
  87. ncbi MicroRNA expression in preimplantation mouse embryos from Ped gene positive compared to Ped gene negative mice
    Michael J Byrne
    Biology Department, Northeastern University, 134 Mugar Hall, 360 Huntington Avenue, Boston, MA, 02115, USA
    J Assist Reprod Genet 25:205-14. 2008
    The mouse preimplantation embryo development (Ped) gene product, Qa-2, influences the rate of preimplantation embryonic development and overall reproductive success...
  88. ncbi Mural destabilization after aneurysm treatment with a flow-diverting device: a report of two cases
    Timothy Hampton
    Department of Cerebrovascular and Endovascular Neurosurgery, King s College Hospital, London, UK
    J Neurointerv Surg 3:167-71. 2011
    ..increase in aneurysm volume-following the treatment of intradural aneurysms with the Pipeline Embolization Device (PED)...
  89. ncbi Fabrication of three-dimensional scaffolds using precision extrusion deposition with an assisted cooling device
    Q Hamid
    Department of Mechanical Engineering and Mechanics, Drexel University, Philadelphia, PA, USA
    Biofabrication 3:034109. 2011
    ..An expanded library of biomaterials will enable the precision extrusion deposition (PED) device to construct three-dimensional scaffolds with enhanced biological, chemical and mechanical cues that will ..
  90. ncbi Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 128:2442-50. 2008
    ..Caucasian patients, we performed DNA sequence analysis of the four genes associated with "classical" OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (..
  91. ncbi SLC45A2: a novel malignant melanoma-associated gene
    L P Fernandez
    Human Genetics Group, Human Cancer Genetics Program, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Hum Mutat 29:1161-7. 2008
    ..A total of 23 SNPs in six candidate genes (ASP, OCA2, TYR, TYRP1, SILV, and SLC45A) belonging to the pigmentation pathway were genotyped...
  92. ncbi Precession electron diffraction using a digital sampling method
    Daliang Zhang
    Inorganic and Structural Chemistry and Berzelii Center EXSELENT on Porous Materials, Department of Materials and Environmental Chemistry, Arrhenius Laboratory, Stockholm University, SE 106 91 Stockholm, Sweden State Key Laboratory of Inorganic Synthesis and Preparative Chemistry, Jilin University, Changchun 130012, China
    Ultramicroscopy 111:47-55. 2010
    A software-based method for collecting precession electron diffraction (PED) patterns is described. The PED patterns are obtained on a computer controlled transmission electron microscope...
  93. ncbi One-year results of combined photodynamic therapy and intravitreal bevacizumab injection for retinal pigment epithelial detachment secondary to age-related macular degeneration
    Chiharu Shima
    Department of Ophthalmology, Osaka University Medical School, Suita, Osaka, Japan
    Graefes Arch Clin Exp Ophthalmol 247:899-906. 2009
    To evaluate the efficacy of combined photodynamic therapy (PDT) and intravitreal bevacizumab injection in eyes with a serous pigment epithelial detachment (PED) associated with age-related macular degeneration (AMD).
  94. ncbi Adolescent depression: views of health care providers in a pediatric emergency department
    Peter F Cronholm
    Department of Family Medicine and Community Health, University of Pennsylvania, Philadelphia, PA 19104 4283, USA
    Pediatr Emerg Care 26:111-7. 2010
    Pediatric emergency department (PED) providers are strategically positioned to identify adolescents with depression...
  95. ncbi High-dose estrogen as salvage hormonal therapy for highly refractory metastatic breast cancer: a retrospective chart review
    Reshma L Mahtani
    Boca Raton Comprehensive Cancer Center, Boca Raton, Florida 33428, USA
    Clin Ther 31:2371-8. 2009
    ..This is due in part to the introduction of tamoxifen in the 1970s, which was proven to be equivalent in efficacy and associated with fewer adverse events (AEs)...
  96. ncbi miR-212 increases tumor necrosis factor-related apoptosis-inducing ligand sensitivity in non-small cell lung cancer by targeting the antiapoptotic protein PED
    Mariarosaria Incoronato
    Fondazione IRCCS SDN, Naples, Italy
    Cancer Res 70:3638-46. 2010
    b>PED/PEA-15 (PED) is a death effector domain family member of 15 kDa with a broad antiapoptotic function found overexpressed in a number of different human tumors, including lung cancer...
  97. ncbi [Photodynamic therapy with verteporfin combined with intravitreal injection of bevacizumab for occult and classic CNV in AMD]
    M Maier
    Augenklinik, Klinikum rechts der Isar der TU Munchen
    Klin Monbl Augenheilkd 225:653-9. 2008
    ..Especially cases of occult CNV with pigment epithelium detachment (PED) are not likely to respond positively to standard photodynamic therapy, often ending up in PED enlargement or ..
  98. ncbi Enhanced depth imaging optical coherence tomography of retinal pigment epithelial detachment in age-related macular degeneration
    Richard F Spaide
    Vitreous Retina Macula Consultants of New York and the LuEsther T Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York 10022, USA
    Am J Ophthalmol 147:644-52. 2009
    ..To describe the internal structure of pigment epithelial detachments (PEDs) seen in eyes with age-related macular degeneration (AMD) as imaged with enhanced depth imaging (EDI) spectral-domain optical coherence tomography (OCT)...
  99. ncbi Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function
    Anand Sitaram
    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Biol Cell 20:1464-77. 2009
    Oculocutaneous albinism type 2 is caused by defects in the gene OCA2, encoding a pigment cell-specific, 12-transmembrane domain protein with homology to ion permeases...
  100. ncbi Markers of overcrowding in a pediatric emergency department
    Antonia S Stang
    Pediatric Emergency Department, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
    Acad Emerg Med 17:151-6. 2010
    ..The objective of this study was to identify markers of overcrowding in pediatric emergency departments (PEDs) according to expert opinion and then to use statistical methods to further explore the underlying construct of overcrowding...

Research Grants73

  1. Flavoenzymes in Pyrimidine Metabolism
    Bruce A Palfey; Fiscal Year: 2010
    ..c. Optional Explanation: 6. * Project Summary/Abstract 6933-PalfeyBA_PA07070_ProjSumAbst_M0i3m0e50T7y.ped:f application/pdf 7. * Project Narrative 2036-PalfeyBA_PA07070_ProjNarr_0305M0i7m.pedTf ype: application/pdf 8...
  2. BIOGENESIS OF MELANOSOMES
    Seth J Orlow; Fiscal Year: 2010
    ..In the absence of functional P protein, tyrosinase fails to mature, significantly reducing melanin synthesis and skin pigmentation...
  3. BIOGENESIS OF MELANOSOMES
    Seth Orlow; Fiscal Year: 2009
    ..In the absence of functional P protein, tyrosinase fails to mature, significantly reducing melanin synthesis and skin pigmentation...
  4. Missing Mutations in Oculocutaneous and Ocular Albinism
    Richard Spritz; Fiscal Year: 2006
    ..albinism (OCA) involves the eyes, skin and hair, and is associated with mutations in four genes: TYR, OCA2, TYRP1, and MATP...
  5. Center for Molecular & Cellular Studies of Ped Disease
    JOSEPH ST GEME; Fiscal Year: 2007
    ..Our previous success in training and developing the scientific careers of junior supports the long-term goal of this CHRCDA to develop successful academic pediatric scientists. ..
  6. Use of Beta-Lapachone for Lung Cancer Chemotherapy
    David Boothman; Fiscal Year: 2007
    ..D. Zhenghong Lee, Ph.D. Steven Dubinett, M.D. William G. Bornmann, Ph.D. Charles Hoppel, M.D. Erik Bey, Ph.D. At Yu, Ph.D. Sharven Sherma, Ph.D. Melissa Bentle Andrew Wiedmann Andrew Bruening CONSULTANTS/COLLABORATORS...
  7. Use of Beta-Lapachone for Lung Cancer Chemotherapy
    David Boothman; Fiscal Year: 2007
    ..D. Zhenghong Lee, Ph.D. Steven Dubinett, M.D. William G. Bornmann, Ph.D. Charles Hoppel, M.D. Erik Bey, Ph.D. At Yu, Ph.D. Sharven Sherma, Ph.D. Melissa Bentle Andrew Wiedmann Andrew Bruening CONSULTANTS/COLLABORATORS...
  8. GENETIC STUDIES OF HUMAN PIGMENTATION DISORDERS
    Richard Spritz; Fiscal Year: 2000
    ..aim is to continue mutational and functional analyses of known OCA genes, particularly the P gene, associated with OCA2. The second specific aim is to complete the positional cloning of the gene for Hermansky-Pudlak syndrome, a form of ..
  9. The function of proteins associated with albinism
    MURRAY BRILLIANT; Fiscal Year: 2005
    ..function of the proteins encoded by the P and MATP genes that are associated with forms of oculocutaneous albinism (OCA2 and OCA4, respectively)...
  10. BIOGENESIS OF MELANOSOMES
    Seth Orlow; Fiscal Year: 2007
    ..We believe that the proposed experimentation will greatly advance our understanding of the pathogenesis of OCA2, of normal variations in ethnic skin coloration, and of pigmentary defects in amelanotic melanomas, in addition to ..
  11. NFATc3 in chronic hypoxic pulmonary hypertension
    Laura Gonzalez Bosc; Fiscal Year: 2009
    ..pdfMime Type: application/pdf 9. Facilities & Other Resources 5931-Gonzalez_Bosc_Facilities_and_ReMsoimureceTsy.ped:f application/pdf 10. Equipment 9632-Gonzalez_Bosc_Equipment...
  12. Behavioral and Neural Correlates of Melodic Intonation Therapy
    Gottfried Schlaug; Fiscal Year: 2009
    ..c. Optional Explanation: 6. * Project Summary/Abstract 4313-Schlaug_RO1rev_MITvsSRT_SumMmiamryeHTLy.ped:f application/pdf 7. * Project Narrative 5952-Schlaug_RO1rev_MITvsSRT_NarraMtivme.pTdyfpe: application/pdf 8...
  13. T-tubule remodeling and Ca2+-dependent arrhythmogenesis in cardiomyopathies.
    Long Sheng Song; Fiscal Year: 2009
    ..Facilities & Other Resources 6666-Song_R01_(Facilities_&_Other_ReMsoimureceTsy)p.ped: fapplication/pdf 10. Equipment 9362-Song_R01_(Major_Equipment)...
  14. Recurrent Abdominal Pain in Children
    Robert Shulman; Fiscal Year: 2003
    ..e., beyond their pediatrician) (RAP-Ped); and those who do not have RAP symptoms (Controls) in order to describe and compare among these children (ages 7-..
  15. Glycemic control in pediatric critical illness: The Ped-E-Trol trial
    MARK RANSFORD RIGBY; Fiscal Year: 2010
    ..more conservative control in children requiring intensive care. The "Ped-E-Trol" ("Pediatric ICUs at Emory Glycemic Control) Trial will study 1,004 children admitted to the ICU for medical,..
  16. A novel therapeutic for the treatment of persistent corneal epithelial defects
    Bennie H Jeng; Fiscal Year: 2010
    Persistent epithelial defects (PED) of the cornea are uncommon, but in addition to the immediate adverse effect on vision, persistent defects can have serious consequences for the health of the eye including infection, scarring, ..
  17. Recurrent Abdominal Pain in Children
    Robert Shulman; Fiscal Year: 2006
    ..tertiary medical attention (RAP-GI); who have RAP but do not seek medical attention beyond their pediatrician (RAP-Ped); and those who do not have RAP symptoms (Controls)...
  18. PROTEIN PAINTING OF PREIMPLANTATION EMBRYOS
    Carol Warner; Fiscal Year: 2003
    ..one gene that influences growth rate of preimplantation embryos and pregnancy outcome has been identified, the Ped gene. The product of the Ped gene is Qa-2 protein...
  19. Emergency Department Brief Intervention to Increase Carbon Monoxide Detector Use
    LARA BETH TRIFILETTI MCKENZIE; Fiscal Year: 2010
    ..or usual care (a flyer on CO poisoning);both of which will be delivered in the Pediatric Emergency Department (PED) waiting room...
  20. Emergency Department Brief Intervention to Increase Carbon Monoxide Detector Use
    LARA TRIFILETTI MCKENZIE; Fiscal Year: 2009
    ..or usual care (a flyer on CO poisoning); both of which will be delivered in the Pediatric Emergency Department (PED) waiting room...
  21. Simplified Pump Oxygenator for Pediatric Use Phase II
    Mark Gartner; Fiscal Year: 2003
    Ension, Inc. is seeking to complete the development of an integrated cardiopulmonary bypass system, Ped- AMMO, that is specifically designed for use in neonatal and small-sized pediatric patients, less than 10 kg body weight...
  22. PED GENE ACTION IN DEVELOPMENT AND REPRODUCTION
    Carol Warner; Fiscal Year: 2005
    ..One example is the mouse Preimplantation embryo development (Ped) gene...
  23. Brief Child Safety Interventions in Emergency Department
    Andrea Gielen; Fiscal Year: 2004
    ..driven and innovative brief intervention for child safety delivered in the Pediatric Emergency Department (PED) of the Johns Hopkins Hospital, which serves a high risk, inner city population...
  24. Pediatric Eye Disease Investigator Group
    Roy Beck; Fiscal Year: 2007
    This application is for a five-year extension of funding for the Pediatric Eye Disease Investigator Group (PEDIG). PED is supported through a single grant to the PEDIG Coordinating Center (CC), which funds all aspects of the group ..
  25. BM12: Brief Motivational Interviewing to Reduce Child BMI
    KEN A RESNICOW; Fiscal Year: 2010
    ..Group 2 (PED only) will include the same assessments, enrollment criterion and educational materials as UC...
  26. BM12: Brief Motivational Interviewing to Reduce Child BMI
    Ken Resnicow; Fiscal Year: 2009
    ..Group 2 (PED only) will include the same assessments, enrollment criterion and educational materials as UC...
  27. Genetic Analysis of Zebrafish Biliary Mutants
    Randolph Matthews; Fiscal Year: 2007
    ..for mda, a biliary development mutant identified in a mutagenesis screen utilizing a unique lipid reporter, PED-6...
  28. HUMAN FACTORS TO DESIGN SAFE PEDIATRIC SEDATION SYSTEMS
    George Blike; Fiscal Year: 2003
    ..Scenarios will be reproducible using a pediatric simulator (Ped-sim TM, Medical Education Technologies, Inc.)...