These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 19191226)

  • 1. Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
    Deuquet J; Abrami L; Difeo A; Ramirez MC; Martignetti JA; van der Goot FG
    Hum Mutat; 2009 Apr; 30(4):583-9. PubMed ID: 19191226
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.
    Antaya RJ; Cajaiba MM; Madri J; Lopez MA; Ramirez MC; Martignetti JA; Reyes-Múgica M
    Am J Dermatopathol; 2007 Feb; 29(1):99-103. PubMed ID: 17284973
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization of the interaction between anthrax toxin and its cellular receptors.
    Liu S; Leung HJ; Leppla SH
    Cell Microbiol; 2007 Apr; 9(4):977-87. PubMed ID: 17381430
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
    Dowling O; Difeo A; Ramirez MC; Tukel T; Narla G; Bonafe L; Kayserili H; Yuksel-Apak M; Paller AS; Norton K; Teebi AS; Grum-Tokars V; Martin GS; Davis GE; Glucksman MJ; Martignetti JA
    Am J Hum Genet; 2003 Oct; 73(4):957-66. PubMed ID: 12973667
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.
    Lee JY; Tsai YM; Chao SC; Tu YF
    Clin Exp Dermatol; 2005 Mar; 30(2):176-9. PubMed ID: 15725249
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
    Deuquet J; Lausch E; Guex N; Abrami L; Salvi S; Lakkaraju A; Ramirez MC; Martignetti JA; Rokicki D; Bonafe L; Superti-Furga A; van der Goot FG
    EMBO Mol Med; 2011 Apr; 3(4):208-21. PubMed ID: 21328543
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.
    Heine C; Quitsch A; Storch S; Martin Y; Lonka L; Lehesjoki AE; Mole SE; Braulke T
    Mol Membr Biol; 2007; 24(1):74-87. PubMed ID: 17453415
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.
    Fong K; Rama Devi AR; Lai-Cheong JE; Chirla D; Panda SK; Liu L; Tosi I; McGrath JA
    Clin Exp Dermatol; 2012 Aug; 37(6):635-8. PubMed ID: 22300424
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
    Hanks S; Adams S; Douglas J; Arbour L; Atherton DJ; Balci S; Bode H; Campbell ME; Feingold M; Keser G; Kleijer W; Mancini G; McGrath JA; Muntoni F; Nanda A; Teare MD; Warman M; Pope FM; Superti-Furga A; Futreal PA; Rahman N
    Am J Hum Genet; 2003 Oct; 73(4):791-800. PubMed ID: 14508707
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis.
    Wang YY; Wen CQ; Wei Z; Jin X
    J Pediatr Hematol Oncol; 2011 Dec; 33(8):e355-7. PubMed ID: 22042284
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
    Gadisseur A; Berneman Z; Schroyens W; Michiels JJ
    Acta Haematol; 2009; 121(2-3):128-38. PubMed ID: 19506359
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.
    El-Kamah GY; Fong K; El-Ruby M; Afifi HH; Clements SE; Lai-Cheong JE; Amr K; El-Darouti M; McGrath JA
    Br J Dermatol; 2010 Jul; 163(1):213-5. PubMed ID: 20331448
    [No Abstract]   [Full Text] [Related]  

  • 13. Infantile systemic hyalinosis: Case report and review of the literature.
    Lindvall LE; Kormeili T; Chen E; Ramirez MC; Grum-Tokars V; Glucksman MJ; Martignetti JA; Zaragoza MV; Dyson SW
    J Am Acad Dermatol; 2008 Feb; 58(2):303-7. PubMed ID: 18222328
    [TBL] [Abstract][Full Text] [Related]  

  • 14. EDEM1 regulates ER-associated degradation by accelerating de-mannosylation of folding-defective polypeptides and by inhibiting their covalent aggregation.
    Olivari S; Cali T; Salo KE; Paganetti P; Ruddock LW; Molinari M
    Biochem Biophys Res Commun; 2006 Nov; 349(4):1278-84. PubMed ID: 16987498
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Correctors promote folding of the CFTR in the endoplasmic reticulum.
    Loo TW; Bartlett MC; Clarke DM
    Biochem J; 2008 Jul; 413(1):29-36. PubMed ID: 18361776
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
    Zeitz C; Forster U; Neidhardt J; Feil S; Kälin S; Leifert D; Flor PJ; Berger W
    Hum Mutat; 2007 Aug; 28(8):771-80. PubMed ID: 17405131
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
    Sawkar AR; Schmitz M; Zimmer KP; Reczek D; Edmunds T; Balch WE; Kelly JW
    ACS Chem Biol; 2006 May; 1(4):235-51. PubMed ID: 17163678
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Integrity of all four transmembrane domains of the tetraspanin uroplakin Ib is required for its exit from the ER.
    Tu L; Kong XP; Sun TT; Kreibich G
    J Cell Sci; 2006 Dec; 119(Pt 24):5077-86. PubMed ID: 17158912
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Laboratory diagnosis and molecular classification of von Willebrand disease.
    Gadisseur A; Hermans C; Berneman Z; Schroyens W; Deckmyn H; Michiels JJ
    Acta Haematol; 2009; 121(2-3):71-84. PubMed ID: 19506352
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.
    Shen WZ; Ding QL; Jin PP; Wang XF; Jiang YZ; Li SM; Wang HL
    Blood Cells Mol Dis; 2009; 42(1):44-50. PubMed ID: 18976939
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.