BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

264 related articles for article (PubMed ID: 33528045)

  • 1. Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
    Egot M; Lasne D; Poirault-Chassac S; Mirault T; Pidard D; Dreano E; Elie C; Gandrille S; Marchelli A; Baruch D; Rendu J; Fauré J; Flaujac C; Gratacap MP; Sié P; Gaussem P; Salomon R; Baujat G; Bachelot-Loza C
    Br J Haematol; 2021 Mar; 192(5):909-921. PubMed ID: 33528045
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.
    Lasne D; Baujat G; Mirault T; Lunardi J; Grelac F; Egot M; Salomon R; Bachelot-Loza C
    Br J Haematol; 2010 Sep; 150(6):685-8. PubMed ID: 20629659
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.
    Zhang X; Jefferson AB; Auethavekiat V; Majerus PW
    Proc Natl Acad Sci U S A; 1995 May; 92(11):4853-6. PubMed ID: 7761412
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Oculocerebrorenal syndrome of Lowe protein controls cytoskeletal reorganisation during human platelet spreading.
    Bura A; de Matteis MA; Bender M; Swinkels M; Versluis J; Jansen AJG; Jurak Begonja A
    Br J Haematol; 2023 Jan; 200(1):87-99. PubMed ID: 36176266
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pivotal role of PDK1 in megakaryocyte cytoskeletal dynamics and polarization during platelet biogenesis.
    Geue S; Aurbach K; Manke MC; Manukjan G; Münzer P; Stegner D; Brähler C; Walker-Allgaier B; Märklin M; Borst CE; Quintanilla-Fend L; Rath D; Geisler T; Salih HR; Seizer P; Lang F; Nieswandt B; Gawaz M; Schulze H; Pleines I; Borst O
    Blood; 2019 Nov; 134(21):1847-1858. PubMed ID: 31578203
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P
    Chen H; Lu C; Tan Y; Weber-Boyvat M; Zheng J; Xu M; Xiao J; Liu S; Tang Z; Lai C; Li M; Olkkonen VM; Yan D; Zhong W
    J Biol Chem; 2023 Jun; 299(6):104812. PubMed ID: 37172724
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.
    Sethi S; Sethi N; Mehta S; Kaur S; Makkar V; Sohal PM
    Saudi J Kidney Dis Transpl; 2020; 31(1):285-288. PubMed ID: 32129227
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ADAP deficiency impairs megakaryocyte polarization with ectopic proplatelet release and causes microthrombocytopenia.
    Spindler M; van Eeuwijk JMM; Schurr Y; Nurden P; Nieswandt B; Stegner D; Reinhold A; Bender M
    Blood; 2018 Aug; 132(6):635-646. PubMed ID: 29950291
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.
    Sugimoto K; Nishi H; Miyazawa T; Fujita S; Okada M; Takemura T
    Tohoku J Exp Med; 2014 Mar; 232(3):163-6. PubMed ID: 24614960
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature:
    Gianesello L; Arroyo J; Del Prete D; Priante G; Ceol M; Harris PC; Lieske JC; Anglani F
    Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34680992
    [TBL] [Abstract][Full Text] [Related]  

  • 11. OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
    Montjean R; Aoidi R; Desbois P; Rucci J; Trichet M; Salomon R; Rendu J; Fauré J; Lunardi J; Gacon G; Billuart P; Dorseuil O
    Hum Mol Genet; 2015 Feb; 24(4):994-1006. PubMed ID: 25305077
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
    Song E; Luo N; Alvarado JA; Lim M; Walnuss C; Neely D; Spandau D; Ghaffarieh A; Sun Y
    Sci Rep; 2017 May; 7(1):1442. PubMed ID: 28473699
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
    Faucherre A; Desbois P; Satre V; Lunardi J; Dorseuil O; Gacon G
    Hum Mol Genet; 2003 Oct; 12(19):2449-56. PubMed ID: 12915445
    [TBL] [Abstract][Full Text] [Related]  

  • 14. OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
    Festa BP; Berquez M; Gassama A; Amrein I; Ismail HM; Samardzija M; Staiano L; Luciani A; Grimm C; Nussbaum RL; De Matteis MA; Dorchies OM; Scapozza L; Wolfer DP; Devuyst O
    Hum Mol Genet; 2019 Jun; 28(12):1931-1946. PubMed ID: 30590522
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
    Jänne PA; Suchy SF; Bernard D; MacDonald M; Crawley J; Grinberg A; Wynshaw-Boris A; Westphal H; Nussbaum RL
    J Clin Invest; 1998 May; 101(10):2042-53. PubMed ID: 9593760
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.
    Suchy SF; Olivos-Glander IM; Nussabaum RL
    Hum Mol Genet; 1995 Dec; 4(12):2245-50. PubMed ID: 8634694
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
    van Rahden VA; Brand K; Najm J; Heeren J; Pfeffer SR; Braulke T; Kutsche K
    Hum Mol Genet; 2012 Dec; 21(23):5019-38. PubMed ID: 22907655
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Structure and function of the Lowe syndrome protein OCRL1.
    Lowe M
    Traffic; 2005 Sep; 6(9):711-9. PubMed ID: 16101675
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Critical role of Src-Syk-PLC{gamma}2 signaling in megakaryocyte migration and thrombopoiesis.
    Mazharian A; Thomas SG; Dhanjal TS; Buckley CD; Watson SP
    Blood; 2010 Aug; 116(5):793-800. PubMed ID: 20457868
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Loss of OCRL increases ciliary PI(4,5)P
    Prosseda PP; Luo N; Wang B; Alvarado JA; Hu Y; Sun Y
    J Cell Sci; 2017 Oct; 130(20):3447-3454. PubMed ID: 28871046
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.