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La ricerca find articoli where soggetti phrase all words 'HERMANSKY-PUDLAK-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 99 riferimenti
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    1. Marks, MS; Seabra, MC
      The melanosome: Membrane dynamics in black and white

      NATURE REVIEWS MOLECULAR CELL BIOLOGY
    2. Baldeon, ME; Ceresa, BP; Casanova, JE
      Expression of constitutively active Rab5 uncouples maturation of the Salmonella-containing vacuole from intracellular replication

      CELLULAR MICROBIOLOGY
    3. Daugherty, BL; Straley, KS; Sanders, JM; Phillips, JW; Disdier, M; McEver, RP; Green, SA
      AP-3 adaptor functions in targeting P-selectin to secretory granules in endothelial cells

      TRAFFIC
    4. Yang, HY; Taylor, KD; Rotter, JI
      Inflammatory bowel disease - I. Genetic epidemiology

      MOLECULAR GENETICS AND METABOLISM
    5. Huizing, M; Sarangarajan, R; Strovel, E; Zhao, Y; Gahl, WA; Boissy, RE
      AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

      MOLECULAR BIOLOGY OF THE CELL
    6. Boehm, M; Bonifacino, JS
      Adaptins - The final recount

      MOLECULAR BIOLOGY OF THE CELL
    7. Robinson, MS; Bonifacino, JS
      Adaptor-related proteins

      CURRENT OPINION IN CELL BIOLOGY
    8. Rendu, F; Brohard-Bohn, B
      The platelet release reaction: granules' constituents, secretion and functions

      PLATELETS
    9. Oh, J; LeCras, TD; Spritz, RA
      Characterization and evolutionary comparison of rat Hps cDNA and exclusionof red-eyed dilution (r) locus

      MAMMALIAN GENOME
    10. Westbroek, W; Lambert, J; Naeyaert, JM
      The dilute locus and Griscelli syndrome: Gateways towards a better understanding of melanosome transport

      PIGMENT CELL RESEARCH
    11. Suzuki, T; Li, W; Zhang, Q; Novak, EK; Sviderskaya, EV; Wilson, A; Bennett, DC; Roe, BA; Swank, RT; Spritz, RA
      The gene mutated in cocoa mice, carrying a defect of organelle biogenesis,is a homologue of the human Hermansky-Pudlak syndrome-3 gene

      GENOMICS
    12. Huizing, M; Didier, A; Walenta, J; Anikster, Y; Gahl, WA; Kramer, H
      Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33

      GENE
    13. Israels, SJ; McMillan-Ward, EM; Easton, J; Robertson, C; McNicol, A
      CD63 associates with the alpha(IIb)beta(3) integrin-CD9 complex on the surface of activated platelets

      THROMBOSIS AND HAEMOSTASIS
    14. Blumstein, J; Faundez, V; Nakatsu, F; Saito, T; Ohno, H; Kelly, RB
      The neuronal form of adaptor protein-3 is required for synaptic vesicle formation from endosomes

      JOURNAL OF NEUROSCIENCE
    15. Tagboto, S; Carr, S; Varghese, A; Allen, A; Feehally, J; Furness, P
      IgA nephropathy, antineutrophil cytoplasmic antibodies and crescentic glomerulonephritis in a patient with the Hermansky-Pudlak syndrome

      AMERICAN JOURNAL OF NEPHROLOGY
    16. Bellier, S
      Lysosomal diseases of man and domestic animals

      REVUE DE MEDECINE VETERINAIRE
    17. Fryer, JP; Oetting, WS; Brott, MJ; King, RA
      Alternative splicing of the tryrosinase gene transcript in normal human melanocytes and lymphocytes

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    18. Gomez, PF; Luo, D; Hirosaki, K; Shinoda, K; Yamashita, T; Suzuki, J; Otsu, K; Ishikawa, K; Jimbow, K
      Identification of rab7 as a melanosome-associated protein involved in the intracellular transport of tyrosinase-related protein 1

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    19. Le Borgne, R; Planque, N; Martin, P; Dewitte, F; Saule, S; Hoflack, B
      The AP-3-dependent targeting of the melanosomal glycoprotein QNR-71 requires a di-leucine-based sorting signal

      JOURNAL OF CELL SCIENCE
    20. Hume, AN; Collinson, LM; Rapak, A; Gomes, AQ; Hopkins, CR; Seabra, MC
      Rab27a regulates the peripheral distribution of melanosomes in melanocytes

      JOURNAL OF CELL BIOLOGY
    21. Raposo, G; Tenza, D; Murphy, DM; Berson, JF; Marks, MS
      Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells

      JOURNAL OF CELL BIOLOGY
    22. Stinchcombe, JC; Barral, DC; Mules, EH; Booth, S; Hume, AN; Machesky, LM; Seabra, MC; Griffiths, GM
      Rab27a is required for regulated secretion in cytotoxic T lymphocytes

      JOURNAL OF CELL BIOLOGY
    23. Aguilar, RC; Boehm, M; Gorshkova, I; Crouch, RJ; Tomita, K; Saito, T; Ohno, H; Bonifacino, JS
      Signal-binding specificity of the mu 4 subunit of the adaptor protein complex AP-4

      JOURNAL OF BIOLOGICAL CHEMISTRY
    24. Stinchcombe, JC; Griffiths, GM
      Normal and abnormal secretion by haemopoietic cells

      IMMUNOLOGY
    25. Pereira-Leal, JB; Hume, AN; Seabra, MC
      Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease

      FEBS LETTERS
    26. Shamburek, RD; Brewer, HB; Gochuico, BR
      Erdheim-Chester disease: A rare multisystem histiocytic disorder associated with interstitial lung disease

      AMERICAN JOURNAL OF THE MEDICAL SCIENCES
    27. Ward, DM; Griffiths, GM; Stinchcombe, JC; Kaplan, J
      Analysis of the lysosomal storage disease Chediak-Higashi syndrome

      TRAFFIC
    28. Huizing, M; Anikster, Y; Gahl, WA
      Hermansky-Pudlak syndrome and related disorders of organelle formation

      TRAFFIC
    29. Li, W; Detter, JC; Weiss, HJ; Cramer, EM; Zhang, Q; Novak, EK; Favier, R; Kingsmore, SF; Swank, RT
      5 '-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene

      MOLECULAR GENETICS AND METABOLISM
    30. Faundez, VV; Kelly, RB
      The AP-3 complex required for endosomal synaptic vesicle biogenesis is associated with a casein kinase I alpha-like isoform

      MOLECULAR BIOLOGY OF THE CELL
    31. Nakatani, Y; Nakamura, N; Sano, J; Inayama, Y; Kawano, N; Yamanaka, S; Miyagi, Y; Nagashima, Y; Ohbayashi, C; Mizushima, M; Manabe, T; Kuroda, M; Yokoi, T; Matsubara, O
      Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    32. Wu, XF; Hammer, JA
      Making sense of melanosome dynamics in mouse melanocytes

      PIGMENT CELL RESEARCH
    33. Spritz, RA
      Hermansky-Pudlak syndrome and pale ear: Melanosome-making for the millennium

      PIGMENT CELL RESEARCH
    34. Dell'Angelica, EC; Mullins, C; Caplan, S; Bonifacino, JS
      Lysosome-related organelles

      FASEB JOURNAL
    35. Feng, LJ; Rigatti, BW; Novak, EK; Gorin, MB; Swank, RT
      Genomic structure of the mouse Ap3b1 gene in normal and pearl mice

      GENOMICS
    36. de Saint Basile, G
      Protein trafficking inherited disorders

      M S-MEDECINE SCIENCES
    37. Caplan, S; Dell'Angelica, EC; Gahl, WA; Bonifacino, JS
      Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex

      IMMUNOLOGY LETTERS
    38. Wilson, SM; Yip, R; Swing, DA; O'Sullivan, TN; Zhang, Y; Novak, EK; Swank, RT; Russell, LB; Copeland, NG; Jenkins, NA
      A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    39. Luzio, JP; Rous, BA; Bright, NA; Pryor, PR; Mullock, BM; Piper, RC
      Lysosome-endosome fusion and lysosome biogenesis

      JOURNAL OF CELL SCIENCE
    40. Yang, W; Li, CY; Ward, DM; Kaplan, J; Mansour, SL
      Defective organellar membrane protein trafficking in Ap3b1-deficient cells

      JOURNAL OF CELL SCIENCE
    41. Rohn, WM; Rouille, Y; Waguri, S; Hoflack, B
      Bi-directional trafficking between the trans-Golgi network and the endosomal/lysosomal system

      JOURNAL OF CELL SCIENCE
    42. Kretzschmar, D; Poeck, B; Roth, H; Ernst, R; Keller, A; Porsch, M; Strauss, R; Pflugfelder, GO
      Defective pigment granule biogenesis and aberrant behavior caused by mutations in the Drosophila AP-3 beta adaptin gene ruby

      GENETICS
    43. Horikawa, T; Araki, K; Fukai, K; Ueda, M; Ueda, T; Ito, S; Ichihashi, M
      Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes

      BRITISH JOURNAL OF DERMATOLOGY
    44. Reed, GL; Fitzgerald, ML; Polgar, J
      Molecular mechanisms of platelet exocytosis: insights into the "secrete" life of thrombocytes

      BLOOD
    45. Vancoillie, G; Lambert, J; Naeyaert, JM
      Melanocyte biology and its implications for the clinician

      EUROPEAN JOURNAL OF DERMATOLOGY
    46. Erickson, RP
      Southwestern Athabaskan (Navajo and Apache) genetic diseases

      GENETICS IN MEDICINE
    47. Introne, W; Boissy, RE; Gahl, WA
      Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

      MOLECULAR GENETICS AND METABOLISM
    48. Richards-Smith, B; Novak, EK; Jang, EK; He, P; Haslam, RJ; Castle, D; Whiteheart, SW; Swank, RT
      Analyses of proteins involved in vesicular trafficking in platelets of mouse models of Hermansky Pudlak syndrome

      MOLECULAR GENETICS AND METABOLISM
    49. Huang, LP; Kuo, YM; Gitschier, J
      The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

      NATURE GENETICS
    50. Oetting, WS; King, RA
      Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism

      HUMAN MUTATION
    51. Alhaidari, Z; Olivry, T; Ortonne, JP
      Melanocytogenesis and melanogenesis: genetic regulation and comparative clinical diseases

      VETERINARY DERMATOLOGY
    52. Ji, WZ; Herron, B; Jones, JM; Jenkins, NA; Gilbert, DJ; Copeland, NG; Swank, R; Flaherty, L; Meisler, MH
      Identification of genes within the Krd deletion on mouse chromosome 19

      MAMMALIAN GENOME
    53. Spritz, RA
      Multi-organellar disorders of pigmentation - intracellular traffic jams inmammals, flies and yeast

      TRENDS IN GENETICS
    54. Kerenyi, A; Schlammadinger, A; Ajzner, E; Szegedi, I; Kiss, C; Pap, Z; Boda, Z; Muszbek, L
      Comparison of PFA-100 closure time and template bleeding time of patients with inherited disorders causing defective platelet function

      THROMBOSIS RESEARCH
    55. McNicol, A; Israels, SJ
      Platelet dense granules: Structure, function and implications for haemostasis

      THROMBOSIS RESEARCH
    56. Sandberg-Gertzen, H; Eid, R; Jarnerot, G
      Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis

      SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
    57. Mullins, C; Hartnell, LM; Wassarman, DA; Bonifacino, JS
      Defective expression of the mu 3 subunit of the AP-3 adaptor complex in the Drosophila pigmentation mutant carmine

      MOLECULAR AND GENERAL GENETICS
    58. Stinchcombe, JC; Griffiths, GM
      Regulated secretion from hemopoietic cells

      JOURNAL OF CELL BIOLOGY
    59. Samaraweera, P; Donatien, PD; Qazi, S; Kobayashi, T; Hearing, VJ; Panthier, JJ; Orlow, SJ
      Identification and characterization of a melanocyte-specific novel 65-kDa peripheral membrane protein

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    60. Spritz, RA
      Multi-organellar disorders of pigmentation: tied up in traffic

      CLINICAL GENETICS
    61. Zhen, LJ; Jiang, S; Feng, LJ; Bright, NA; Peden, AA; Seymour, AB; Novak, EK; Elliott, R; Gorin, MB; Robinson, MS; Swank, RT
      Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse

      BLOOD
    62. Seri, M; Cusano, R; Forabosco, P; Cinti, R; Caroli, F; Picco, P; Bini, R; Morra, VB; De Michele, G; Lerone, M; Silengo, M; Pela, I; Borrone, C; Romeo, G; Devoto, M
      Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

      AMERICAN JOURNAL OF HUMAN GENETICS
    63. MCKEOWN LP; HANSMANN KE; WILSON O; GAHL W; GRALNICK HR; ROSENFELD KE; ROSENFELD SJ; HORNE MK; RICK ME
      PLATELET VON-WILLEBRAND-FACTOR IN HERMANSKY-PUDLAK SYNDROME

      American journal of hematology
    64. ARMSTRONG LW; ROM WN; MARTINIUK FT
      THE GENE FOR LYSOSOMAL PROTEIN CD63 IS NORMAL IN PATIENTS WITH HERMANSKY-PUDLAK-SYNDROME

      Lung
    65. GWYNN B; LUEDERS K; SANDS MS; BIRKENMEIER EH
      INTRACISTERNAL A-PARTICLE ELEMENT TRANSPOSITION INTO THE MURINE BETA-GLUCURONIDASE GENE CORRELATES WITH LOSS OF ENZYME-ACTIVITY - A NEW MODEL FOR BETA-GLUCURONIDASE DEFICIENCY IN THE C3H MOUSE

      Molecular and cellular biology (Print)
    66. SCHWARTZ DA; PETERSON MW
      OCCUPATIONAL LUNG-DISEASE

      Disease-a-month
    67. CARDEN SM; BOISSY RE; SCHOETTKER PJ; GOOD WV
      ALBINISM - MODERN MOLECULAR DIAGNOSIS

      British journal of ophthalmology
    68. MARSHALL RP; MCANULTY RJ; LAURENT GJ
      THE PATHOGENESIS OF PULMONARY FIBROSIS - IS THERE A FIBROSIS GENE

      International journal of biochemistry & cell biology
    69. LORENZ B
      ALBINISM - CURRENT CLINICAL AND MOLECULAR -GENETIC ASPECTS OF AN IMPORTANT DIFFERENTIAL-DIAGNOSIS OF CONGENITAL NYSTAGMUS

      Der Ophthalmologe
    70. BOISSY RE; NORDLUND JJ
      MOLECULAR-BASIS OF CONGENITAL HYPOPIGMENTARY DISORDERS IN HUMANS - A REVIEW

      Pigment cell research
    71. MAECKER HT; TODD SC; LEVY S
      THE TETRASPANIN SUPERFAMILY - MOLECULAR FACILITATORS

      The FASEB journal
    72. ISRAELS SJ; ODAIBO FS; ROBERTSON C; MCMILLAN EM; MCNICOL A
      DEFICIENT THROMBOXANE SYNTHESIS AND RESPONSE IN PLATELETS FROM PREMATURE-INFANTS

      Pediatric research
    73. HAYWARD CPM; CRAMER EM; KANE WH; ZHENG SL; BOUCHARD M; MASSE JM; RIVARD GE
      STUDIES OF A 2ND FAMILY WITH THE QUEBEC PLATELET DISORDER - EVIDENCE THAT THE DEGRADATION OF THE ALPHA-GRANULE MEMBRANE AND ITS SOLUBLE CONTENTS ARE NOT SECONDARY TO A DEFECT IN TARGETING PROTEINS TO ALPHA-GRANULES

      Blood
    74. YOUSSEFIAN T; MASSE JM; RENDU F; GUICHARD J; CRAMER EM
      PLATELET AND MEGAKARYOCYTE DENSE GRANULES CONTAIN GLYCOPROTEINS IB AND IIB-IIIA

      Blood
    75. ORLOW SJ
      ALBINISM - AN UPDATE

      Seminars in cutaneous medicine and surgery
    76. OETTING WS; BRILLIANT MH; KING RA
      THE CLINICAL SPECTRUM OF ALBINISM IN HUMANS

      Molecular medicine today
    77. RAMSAY M
      PROTEIN TRAFFICKING VIOLATIONS

      Nature genetics
    78. ISRAELS SJ; MCMILLAN EM; ROBERTSON C; SINGHROY S; MCNICOL A
      THE LYSOSOMAL GRANULE MEMBRANE-PROTEIN, LAMP-2, IS ALSO PRESENT IN PLATELET DENSE GRANULE MEMBRANES

      Thrombosis and haemostasis
    79. BERZ F; WEISS M; BELOHRADSKY BH
      ALBINISM, THROMBOPATHY, CEROID STORAGE DI SEASE - HERMANSKY-PUDLAK SYNDROME - SURVEY AND DESCRIPTION WITH IMMUNODEFICIENCY

      Klinische Padiatrie
    80. SWANK RT; REDDINGTON M; NOVAK EK
      INHERITED PROLONGED BLEEDING-TIME AND PLATELET STORAGE POOL DEFICIENCY IN THE SUBTLE GRAY (SUT) MOUSE

      Laboratory animal science
    81. MARK BL; JILKINA O; BHULLAR RP
      ASSOCIATION OF RAL GTP-BINDING PROTEIN WITH HUMAN PLATELET DENSE GRANULES

      Biochemical and biophysical research communications
    82. SAKUMA T; MONMA N; SATODATE R; SATOH T; TAKEDA R; KURIYA SI
      CEROID PIGMENT DEPOSITION IN CIRCULATING BLOOD MONOCYTES AND T-LYMPHOCYTES IN HERMANSKY-PUDLAK SYNDROME - AN ULTRASTRUCTURAL-STUDY

      Pathology international
    83. YAMAUCHI K; SHIMAMURA K
      PULMONARY FIBROSIS AND SEA-BLUE HISTIOCYTE INFILTRATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS

      The European respiratory journal
    84. OHBAYASHI C; KANOMATA N; IMAI Y; ITO H; SHIMASAKI H
      HERMANSKY-PUDLAK SYNDROME - A CASE-REPORT WITH ANALYSIS OF AUTOFLUORESCENT CEROID-LIKE PIGMENTS

      Gerontology
    85. MORGENSTERN E; BASTIAN D; DIERICHS R
      THE FORMATION OF COMPOUND GRANULES FROM DIFFERENT TYPES OF SECRETORY ORGANELLES IN HUMAN PLATELETS (DENSE GRANULES AND ALPHA-GRANULES) - A CRYOFIXATION-SUBSTITUTION STUDY USING SERIAL SECTIONS

      European journal of cell biology
    86. SMITH DA; MONK PN; PARTRIDGE LJ
      ANTIBODIES AGAINST HUMAN CD63 ACTIVATE TRANSFECTED RAT BASOPHILIC LEUKEMIA (RBL-2H3) CELLS

      Molecular immunology
    87. ELLIS JP; GRAY A; RICHARDS F
      OCULOCUTANEOUS ALBINISM AND BRUISING IN 2 SISTERS - PROBABLE HERMANSKY-PUDLAK SYNDROME

      Journal of the Royal Society of Medicine
    88. ORLOW SJ
      MELANOSOMES ARE SPECIALIZED MEMBERS OF THE LYSOSOMAL LINEAGE OF ORGANELLES

      Journal of investigative dermatology
    89. HOROWITZ ID
      DYSPNEA IN A 30-YEAR-OLD HISPANIC MAN WITH ALBINISM

      Chest
    90. WALL JE; BUIJSWILTS M; ARNOLD JT; WANG W; WHITE MM; JENNINGS LK; JACKSON CW
      A FLOW CYTOMETRIC ASSAY USING MEPACRINE FOR STUDY OF UPTAKE AND RELEASE OF PLATELET DENSE GRANULE CONTENTS

      British Journal of Haematology
    91. BARSH GS
      PIGMENTATION, PLEIOTROPY, AND GENETIC PATHWAYS IN HUMANS AND MICE

      American journal of human genetics
    92. SANDERSON IR
      UNUSUAL COLITIDES

      Bailliere's clinical gastroenterology
    93. KOTZOT D; RICHTER K; GIERTHFIEBIG K
      OCULOCUTANEOUS ALBINISM, IMMUNODEFICIENCY, HEMATOLOGICAL DISORDERS, AND MINOR ANOMALIES - A NEW AUTOSOMAL RECESSIVE SYNDROME

      American journal of medical genetics
    94. ESKINA EN; SMOLYANINOVA IL; SHAMSHINOVA AM
      DIAGNOSIS AND CARE FOR ALBINO PATIENTS

      Vestnik oftal'mologii
    95. SCHALLREUTER KU; LEMKE KR; HILL HZ; WOOD JM
      THIOREDOXIN REDUCTASE INDUCTION COINCIDES WITH MELANIN BIOSYNTHESIS IN BROWN AND BLACK GUINEA-PIGS AND IN MURINE MELANOMA-CELLS

      Journal of investigative dermatology
    96. CHAM BP; GERRARD JM; BAINTON DF
      GRANULOPHYSIN IS LOCATED IN THE MEMBRANE OF AZUROPHILIC GRANULES IN HUMAN NEUTROPHILS AND MOBILIZES TO THE PLASMA-MEMBRANE FOLLOWING CELL STIMULATION

      The American journal of pathology
    97. SCHALLREUTER KU; FRENK E; WOLFE LS; WITKOP CJ; WOOD JM
      HERMANSKY-PUDLAK SYNDROME IN A SWISS POPULATION

      Dermatology
    98. WITKOP CJ; BOWIE EJW; KRUMWIEDE MD; SWANSON JL; PLUMHOFF EA; WHITE JG
      SYNERGISTIC EFFECT OF STORAGE POOL DEFICIENT PLATELETS AND LOW PLASMAVON-WILLEBRAND-FACTOR ON THE SEVERITY OF THE HEMORRHAGIC DIATHESIS INHERMANSKY-PUDLAK SYNDROME

      American journal of hematology
    99. RAGHU G; HERT R
      INTERSTITIAL LUNG-DISEASES - GENETIC PREDISPOSITION AND INHERITED INTERSTITIAL LUNG-DISEASES

      Seminars in respiratory medicine


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Documento generato il 04/08/20 alle ore 17:03:47