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La ricerca find articoli where soggetti phrase all words 'CHEDIAK-HIGASHI-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 169 riferimenti
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    1. Burg, ND; Pillinger, MH
      The neutrophil: Function and regulation in innate and humoral immunity

      CLINICAL IMMUNOLOGY
    2. Joliat, MJ; Shultz, LD
      The molecular bases of spontaneous immunological mutations in the mouse and their homologous human diseases

      CLINICAL IMMUNOLOGY
    3. Marks, MS; Seabra, MC
      The melanosome: Membrane dynamics in black and white

      NATURE REVIEWS MOLECULAR CELL BIOLOGY
    4. de Saint Basile, G; Fischer, A
      The role of cytotoxicity in lymphocyte homeostasis

      CURRENT OPINION IN IMMUNOLOGY
    5. Meyle, J; Gonzales, JR
      Influences of systemic diseases on periodontitis in children and adolescents

      PERIODONTOLOGY 2000
    6. Samaranayake, YH; Samaranayake, LP
      Experimental oral candidiasis in animal models

      CLINICAL MICROBIOLOGY REVIEWS
    7. Yang, KD; Hill, HR
      Granulocyte function disorders: aspects of development, genetics and management

      PEDIATRIC INFECTIOUS DISEASE JOURNAL
    8. Okano, M
      Epstein-Barr virus in patients with immunodeficiency disorders

      BIOMEDICINE & PHARMACOTHERAPY
    9. Yin, EZ; Frush, DP; Donnelly, LF; Buckley, RH
      Primary immunodeficiency disorders in pediatric patients: Clinical features and imaging findings

      AMERICAN JOURNAL OF ROENTGENOLOGY
    10. Borges, R; Jaen, R; Freire, F; Gomez, JF; Villafruela, C; Yanes, E
      Morphological and functional characterization of beige mouse adrenomedullary secretory vesicles

      CELL AND TISSUE RESEARCH
    11. Henderson, JM; Bergman, S; Salama, A; Koterwas, G
      Management of the oral and maxillofacial surgery patient with thrombocytopenia

      JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
    12. Trigg, ME; Schugar, R
      Chediak-Higashi syndrome: hematopoietic chimerism defect corrects genetic

      BONE MARROW TRANSPLANTATION
    13. Ivanovich, J; Mallory, S; Storer, T; Ciske, D; Hing, A
      12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    14. Fischer, A
      Primary immunodeficiency diseases: an experimental model for molecular medicine

      LANCET
    15. Narayanan, S; Peerschke, EIB
      Biochemical hematology of platelets and leukocytes

      ADVANCES IN CLINICAL CHEMISTRY, VOL 36
    16. 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
    17. Wang, JW; Howson, J; Haller, E; Kerr, WG
      Identification of a novel lipopolysaccharide-inducible gene with key features of both a kinase anchor proteins and chs1/beige proteins

      JOURNAL OF IMMUNOLOGY
    18. Colucci, F; Rosmaraki, E; Bregenholt, S; Samson, SI; Di Bartolo, V; Turner, M; Vanes, L; Tybulewicz, V; Di Santo, JP
      Functional dichotomy in natural killer cell signaling: Vav1-dependent and -independent mechanisms

      JOURNAL OF EXPERIMENTAL MEDICINE
    19. 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
    20. Stinchcombe, JC; Griffiths, GM
      Normal and abnormal secretion by haemopoietic cells

      IMMUNOLOGY
    21. Goncalves, AS; Appelberg, R
      Effects of recombinant granulocyte-colony stimulating factor administration during Mycobacterium avium infection in mice

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    22. Drouin, A; Favier, R; Masse, JM; Debili, N; Schmitt, A; Elbim, C; Guichard, J; Adam, M; Gougerot-Pocidalo, MA; Cramer, EM
      Newly recognized cellular abnormalities in the gray platelet syndrome

      BLOOD
    23. Stinchcombe, JC; Page, LJ; Griffiths, GM
      Secretory lysosome biogenesis in cytotoxic T lymphocytes from normal and Chediak Higashi syndrome patients

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

      TRAFFIC
    25. Nishikawa, T; Nishimura, M
      Mapping of the beige (bg) Gene on Rat Chromosome 17

      EXPERIMENTAL ANIMALS
    26. Chollet-Martin, S; Gougerot-Pocidalo, MA
      Hereditary polymorphonuclear neutrophil deficiencies.

      TRANSFUSION CLINIQUE ET BIOLOGIQUE
    27. Kamani, NR; Infante, AJ
      Chronic granulomatous disease and other disorders of neutrophil function

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    28. Overwijk, WW; Restifo, NP
      Autoimmunity and the immunotherapy of cancer: Targeting the "self" to destroy the "other"

      CRITICAL REVIEWS IN IMMUNOLOGY
    29. Andrews, NW
      Regulated secretion of conventional lysosomes

      TRENDS IN CELL BIOLOGY
    30. Watanabe, K; Noda, K; Hamano, S; Koga, M; Kishihara, K; Nomoto, K; Tada, I
      The crucial role of granulocytes in the early host defense against Strongyloides ratti infection in mice

      PARASITOLOGY RESEARCH
    31. Stephan, JL; Galambrun, C
      Reactive haemophagocytic syndrome in children

      ARCHIVES DE PEDIATRIE
    32. Liang, JS; Lu, MY; Tsai, MJ; Lin, DT; Lin, KH
      Bone marrow transplantation from an HLA-matched unrelated donor for treatment of Chediak-Higashi syndrome

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    33. Chico, Y; Lafita, M; Ramirez-Duque, P; Merino, F; Ochoa, B
      Alterations in erythrocyte membrane lipid and fatty acid composition in Chediak-Higashi Syndrome

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    34. Setaluri, V
      Sorting and targeting of melanosomal membrane proteins: Signals, pathways,and mechanisms

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

      FASEB JOURNAL
    36. Callan, MB; Griot-Wenk, ME; Hackner, SG; Giger, U
      Persistent thrombopathy causing bleeding in 2 domestic shorthaired cats

      JOURNAL OF VETERINARY INTERNAL MEDICINE
    37. Hauser, RA; Friedlander, J; Baker, MJ; Thomas, J; Zuckerman, KS
      Adult Chediak-Higashi parkinsonian syndrome with dystonia

      MOVEMENT DISORDERS
    38. de Saint Basile, G
      Protein trafficking inherited disorders

      M S-MEDECINE SCIENCES
    39. Tanabe, F; Cui, SH; Ito, M
      Abnormal down-regulation of PKC is responsible for giant granule formationin fibroblasts from CHS (beige) mice - a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts

      JOURNAL OF LEUKOCYTE BIOLOGY
    40. Farah, CS; Ashman, RB; Challacombe, SJ
      Oral candidosis

      CLINICS IN DERMATOLOGY
    41. Kunieda, T; Ide, H; Nakagiri, M; Yoneda, K; Konfortov, B; Ogawa, H
      Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28

      ANIMAL GENETICS
    42. Yamakuchi, H; Agaba, M; Hirano, T; Hara, K; Todoroki, J; Mizoshita, K; Kubota, C; Tabara, N; Sugimoto, Y
      Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu)

      ANIMAL GENETICS
    43. Galligan, CL; Coomber, BL
      Effects of human IL-8 isoforms on bovine neutrophil function in vitro

      VETERINARY IMMUNOLOGY AND IMMUNOPATHOLOGY
    44. Shiraishi, M; Ikeda, M; Fujishiro, T; Fukuyama, K; Ito, K
      Characteristics of collagen-induced Ca2+ mobilization in bovine platelets

      CELL CALCIUM
    45. Stock, W; Hoffman, R
      White blood cells 1: non-malignant disorders

      LANCET
    46. Ellison, AR; Yang, L; Voytek, C; Margolis, TP
      Establishment of latent herpes simplex virus type 1 infection in resistant, sensitive, and immunodeficient mouse strains

      VIROLOGY
    47. Faigle, W; Raposo, G; Amigorena, S
      Antigen presentation and lysosomal membrane traffic in the Chediak-Higashisyndrome

      PROTOPLASMA
    48. Segal, BH; Holland, SM
      Primary phagocytic disorders of childhood

      PEDIATRIC CLINICS OF NORTH AMERICA
    49. Horwitz, ME
      Stem-cell transplantation for inherited immunodeficiency disorders

      PEDIATRIC CLINICS OF NORTH AMERICA
    50. Lekstrom-Himes, JA; Gallin, JI
      Immunodeficiency diseases caused by defects in phagocytes

      NEW ENGLAND JOURNAL OF MEDICINE
    51. Olkkonen, VM; Ikonen, E
      Mechanisms of disease - Genetic defects of intracellular-membrane transport

      NEW ENGLAND JOURNAL OF MEDICINE
    52. Blute, RD; Oliva, E; Goldberg, SN; Scully, RE; Dretler, SP; Oliva, E; Foster, JA
      A 32-year-old man with a lesion of the urinary bladder - Schistosomiasis of the urinary bladder (infection with S-haematobium)

      NEW ENGLAND JOURNAL OF MEDICINE
    53. Shibutani, T; Gen, K; Shibata, M; Horiguchi, Y; Kondo, N; Iwayama, Y
      Long-term follow-up of periodontitis in a patient with Chediak-Higashi syndrome. A case report

      JOURNAL OF PERIODONTOLOGY
    54. Delcourt-Debruyne, EMC; Boutigny, HRA; Hildebrand, HF
      Features of severe periodontal disease in a teenager with Chediak-Higashi syndrome

      JOURNAL OF PERIODONTOLOGY
    55. Triplett, DA
      Coagulation and bleeding disorders: Review and update

      CLINICAL CHEMISTRY
    56. 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
    57. Gwynn, B; Ciciotte, SL; Hunter, SJ; Washburn, LL; Smith, RS; Andersen, SG; Swank, RT; Dell'Angelica, EC; Bonifacino, JS; Eicher, EM; Peters, LL
      Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism

      BLOOD
    58. Reed, GL; Fitzgerald, ML; Polgar, J
      Molecular mechanisms of platelet exocytosis: insights into the "secrete" life of thrombocytes

      BLOOD
    59. Okano, M; Gross, TG
      A review of Epstein-Barr virus infection in patients with immunodeficiencydisorders

      AMERICAN JOURNAL OF THE MEDICAL SCIENCES
    60. Shotelersuk, V; Dell'Angelica, EC; Hartnell, L; Bonifacino, JS; Gahl, WA
      A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

      AMERICAN JOURNAL OF MEDICINE
    61. Moore, KJ
      Utilization of mouse models in the discovery of human disease genes

      DRUG DISCOVERY TODAY
    62. Vancoillie, G; Lambert, J; Naeyaert, JM
      Melanocyte biology and its implications for the clinician

      EUROPEAN JOURNAL OF DERMATOLOGY
    63. Dufourcq-Lagelouse, R; Pastural, E; Barrat, FJ; Feldmann, J; le Deist, F; Fischer, A; Basile, GD
      Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    64. Qureshi, ST; Skamene, E; Malo, D
      Comparative genomics and host resistance against infectious diseases

      EMERGING INFECTIOUS DISEASES
    65. Huang, LP; Kuo, YM; Gitschier, J
      The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

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

      HUMAN MUTATION
    67. Kwak, E; Gerald, N; Larochelle, DA; Vithalani, KK; Niswonger, ML; Maready, M; De Lozanne, A
      LvsA, a protein related to the mouse beige protein, is required for cytokinesis in Dictyostelium

      MOLECULAR BIOLOGY OF THE CELL
    68. Cavarra, E; Martorana, PA; de Santi, M; Bartalesi, B; Cortese, S; Gambelli, F; Lungarella, G
      Neutrophil influx into the lungs of beige mice is followed by elastolytic damage and emphysema

      AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
    69. Dufourcq-Lagelouse, R; Lambert, N; Duval, M; Viot, G; Vilmer, E; Fischer, A; Prieur, M; de Saint Basile, G
      Chediak-Higashi syndrome associated with maternal uniparental isodisomy ofchromosome 1

      EUROPEAN JOURNAL OF HUMAN GENETICS
    70. Arceci, RJ
      The histiocytoses: The fall of the Tower of Babel

      EUROPEAN JOURNAL OF CANCER
    71. Baldus, M; Zunftmeister, V; Geibel-Werle, G; Claus, B; Mewes, D; Uppenkamp, M; Nebe, T
      Chediak-Higashi-Steinbrinck syndrome (CHS) in a 27-year-old woman - effects of G-CSF treatment

      ANNALS OF HEMATOLOGY
    72. Mori, M; Nishikawa, T; Higuchi, K; Nishimura, M
      Deletion in the beige gene of the beige rat owing to recombination betweenLINE1s

      MAMMALIAN GENOME
    73. Dufourcq-Lagelouse, R; Pastural, E; Barrat, FJ; Le Deist, F; Fischer, A; de Saint Basile, G
      Genetic defects of T-lymphocyte activation control evolving into a lymphohistiocyte activation syndrome

      ARCHIVES DE PEDIATRIE
    74. Kinane, D
      Blood and lymphoreticular disorders

      PERIODONTOLOGY 2000
    75. Passmore, LA; Kaesmann-Kellner, B; Weber, BHF
      Novel and recurrent mutations in the tyrosinase gene and the P gene in theGerman albino population

      HUMAN GENETICS
    76. Kreder, D; Krut, O; Adam-Klages, S; Wiegmann, K; Scherer, G; Plitz, T; Jensen, JM; Proksch, E; Steinmann, J; Pfeffer, K; Kronke, M
      Impaired neutral sphingomyelinase activation and cutaneous barrier repair in FAN-deficient mice

      EMBO JOURNAL
    77. McNicol, A; Israels, SJ
      Platelet dense granules: Structure, function and implications for haemostasis

      THROMBOSIS RESEARCH
    78. Lem, L; Riethof, DA; Scidmore-Carlson, M; Griffiths, GM; Hackstadt, T; Brodsky, FM
      Enhanced interaction of HLA-DM with HLA-DR in enlarged vacuoles of hereditary and infectious lysosomal diseases

      JOURNAL OF IMMUNOLOGY
    79. Simmen, T; Schmidt, A; Hunziker, W; Beermann, F
      The tyrosinase tail mediates sorting to the lysosomal compartment in MDCK cells via a di-leucine and a tyrosine-based signal

      JOURNAL OF CELL SCIENCE
    80. Stinchcombe, JC; Griffiths, GM
      Regulated secretion from hemopoietic cells

      JOURNAL OF CELL BIOLOGY
    81. Becker, KG
      Comparative genetics of type 1 diabetes and autoimmune disease - Common loci, common pathways?

      DIABETES
    82. Spritz, RA
      Multi-organellar disorders of pigmentation: tied up in traffic

      CLINICAL GENETICS
    83. Nakazawa, T; Agematsu, K; Yasui, K; Onodera, T; Inoue, R; Kaneko, H; Kondor, N; Yamamoto, M; Kayagaki, N; Yagita, H; Okumura, K; Komiyama, A
      Cytolytic mechanisms involved in non-MHC-restricted cytotoxicity in Chediak-Higashi syndrome

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    84. Flores, NA; Stavrou, BM; Sheridan, DJ
      The effects of diadenosine polyphosphates on the cardiovascular system

      CARDIOVASCULAR RESEARCH
    85. Duran-McKinster, C; Rodriguez-Jurado, R; Ridaura, C; Orozco-Covarrubias, MADL; Tamayo, L; Ruiz-Maldonando, R
      Elejalde syndrome - A melanolysosomal neurocutaneous syndrome - Clinical and morphological findings in 7 patients

      ARCHIVES OF DERMATOLOGY
    86. Ohadi, M; Lalloz, MRA; Sham, P; Zhao, JH; Dearlove, AM; Shiach, C; Kinsey, S; Rhodes, M; Layton, DM
      Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping

      AMERICAN JOURNAL OF HUMAN GENETICS
    87. Dufourcq-Lagelouse, R; Jabado, N; Le Deist, F; Stephan, JL; Souillet, G; Bruin, M; Vilmer, E; Schneider, M; Janka, G; Fischer, A; Basile, GD
      Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity

      AMERICAN JOURNAL OF HUMAN GENETICS
    88. VONMOERS A; VANLANDEGHEM FKH; COHN RD; BAUMGARTEN E; BURGER J; STOLTENBURGDIDINGER G
      DYSTROPHINOPATHY IN A BOY WITH CHEDIAK-HIGASHI-SYNDROME

      Neuromuscular disorders
    89. SAGAI T; KOIDE T; ENDO M; TANOUE K; KIKKAWA Y; YONEKAWA H; ISHIGURO S; TAMAI M; MATSUDA Y; WAKANA S; SHIROISHI T
      RIM2 (RECOMBINATION-INDUCED MUTATION-2) IS A NEW ALLELE OF PEARL AND A MOUSE MODEL OF HUMAN HERMANSKY-PUDLAK-SYNDROME (HPS) - GENETIC AND PHYSICAL MAPPING

      Mammalian genome
    90. FUSHUKU S; OKAMOTO K; DEGUCHI E; AKUZAWA M
      CHANGES OF PLATELET CYTOSKELETAL PROTEINS FOLLOWING PLATELET-AGGREGATION INDUCED BY COLLAGEN AND PLATELET MEMBRANE GLYCOPROTEIN IN JAPANESEBLACK CATTLE WITH DELTA-STORAGE POOL DEFICIENCY

      Journal of veterinary medical science
    91. SWANK RT; NOVAK EK; MCGARRY MP; RUSINIAK ME; FENG LJ
      MOUSE MODELS OF HERMANSKY-PUDLAK-SYNDROME - A REVIEW

      Pigment cell research
    92. HAMMEL I; DVORAK AM; FOX P; SHIMONI E; GALLI SJ
      DEFECTIVE CYTOPLASMIC GRANULE FORMATION II - DIFFERENCES IN PATTERNS OF RADIOLABELING OF SECRETORY GRANULES IN BEIGE VERSUS NORMAL MOUSE PANCREATIC ACINAR-CELLS AFTER [H-3]GLYCINE ADMINISTRATION IN-VIVO

      Cell and tissue research
    93. SPRITZ RA
      GENETIC-DEFECTS IN CHEDIAK-HIGASHI-SYNDROME AND THE BEIGE MOUSE

      Journal of clinical immunology
    94. DEGOPEGUI RR; FELDMAN BF
      ACQUIRED AND INHERITED PLATELET DYSFUNCTION IN SMALL ANIMALS

      The Compendium on continuing education for the practicing veterinarian
    95. MANCINI AJ; CHAN LS; PALLER AS
      PARTIAL ALBINISM WITH IMMUNODEFICIENCY - GRISCELLI-SYNDROME - REPORT OF A CASE AND REVIEW OF THE LITERATURE

      Journal of the American Academy of Dermatology
    96. PAGE LJ; DARMON AJ; UELLNER R; GRIFFITHS GM
      L IS FOR LYTIC GRANULES - LYSOSOMES THAT KILL

      Biochimica et biophysica acta. Molecular cell research
    97. TEN RM
      PRIMARY IMMUNODEFICIENCIES

      Mayo Clinic proceedings
    98. FUJIMORI H; OZAKI K; NOMURA S; NISHIKAWA T; PANHOU H; NISHIMURA M; NARAMA I
      CHARACTERIZATION OF PLATELET ABNORMALITIES OF TESTER-MORIYAMA (TM) RATS WITH STORAGE POOL DEFICIENCY

      Laboratory animal science
    99. CARDEN SM; BOISSY RE; SCHOETTKER PJ; GOOD WV
      ALBINISM - MODERN MOLECULAR DIAGNOSIS

      British journal of ophthalmology
    100. CAVARRA E; MARTORANA PA; CORTESE S; GAMBELLI F; DISIMPLICIO P; LUNGARELLA G
      NEUTROPHILS IN BEIGE MICE SECRETE NORMAL AMOUNTS OF CATHEPSIN-G AND A46 KDA LATENT FORM OF ELASTASE THAT CAN BE ACTIVATED EXTRACELLULARLY BY PROTEOLYTIC ACTIVITY

      Biological chemistry


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Documento generato il 20/10/20 alle ore 22:35:16