BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 10384394)

  • 1. Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.
    Gärtner J; Preuss N; Brosius U; Biermanns M
    J Inherit Metab Dis; 1999 May; 22(3):311-3. PubMed ID: 10384394
    [No Abstract]   [Full Text] [Related]  

  • 2. A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.
    Maxwell MA; Nelson PV; Chin SJ; Paton BC; Carey WF; Crane DI
    Hum Genet; 1999; 105(1-2):38-44. PubMed ID: 10480353
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
    Walter C; Gootjes J; Mooijer PA; Portsteffen H; Klein C; Waterham HR; Barth PG; Epplen JT; Kunau WH; Wanders RJ; Dodt G
    Am J Hum Genet; 2001 Jul; 69(1):35-48. PubMed ID: 11389485
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).
    Wanders RJ; Mooijer PA; Dekker C; Suzuki Y; Shimozawa N
    J Inherit Metab Dis; 1999 May; 22(3):314-8. PubMed ID: 10384395
    [No Abstract]   [Full Text] [Related]  

  • 5. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
    Tamura S; Matsumoto N; Imamura A; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
    Biochem J; 2001 Jul; 357(Pt 2):417-26. PubMed ID: 11439091
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
    Poll-The BT; Gootjes J; Duran M; De Klerk JB; Wenniger-Prick LJ; Admiraal RJ; Waterham HR; Wanders RJ; Barth PG
    Am J Med Genet A; 2004 May; 126A(4):333-8. PubMed ID: 15098231
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.
    Rosewich H; Ohlenbusch A; Gärtner J
    J Med Genet; 2005 Sep; 42(9):e58. PubMed ID: 16141001
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
    Imamura A; Tamura S; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Orii T; Kondo N; Osumi T; Fujiki Y
    Hum Mol Genet; 1998 Dec; 7(13):2089-94. PubMed ID: 9817926
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
    Maxwell MA; Allen T; Solly PB; Svingen T; Paton BC; Crane DI
    Hum Mutat; 2002 Nov; 20(5):342-51. PubMed ID: 12402331
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders.
    Brosius U; Gärtner J
    Cell Mol Life Sci; 2002 Jun; 59(6):1058-69. PubMed ID: 12169017
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic and molecular bases of peroxisome biogenesis disorders.
    Suzuki Y; Shimozawa N; Orii T; Tsukamoto T; Osumi T; Fujiki Y; Kondo N
    Genet Med; 2001; 3(5):372-6. PubMed ID: 11545691
    [No Abstract]   [Full Text] [Related]  

  • 12. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.
    Geisbrecht BV; Collins CS; Reuber BE; Gould SJ
    Proc Natl Acad Sci U S A; 1998 Jul; 95(15):8630-5. PubMed ID: 9671729
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids.
    MacLean GE; Argyriou C; Di Pietro E; Sun X; Birjandian S; Saberian P; Hacia JG; Braverman NE
    J Cell Biochem; 2019 Mar; 120(3):3243-3258. PubMed ID: 30362618
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.
    Hiebler S; Masuda T; Hacia JG; Moser AB; Faust PL; Liu A; Chowdhury N; Huang N; Lauer A; Bennett J; Watkins PA; Zack DJ; Braverman NE; Raymond GV; Steinberg SJ
    Mol Genet Metab; 2014 Apr; 111(4):522-532. PubMed ID: 24503136
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
    Imamura A; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Fujiki Y; Orii T; Osumi T; Wanders RJ; Kondo N
    Pediatr Res; 2000 Oct; 48(4):541-5. PubMed ID: 11004248
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
    Tamura S; Okumoto K; Toyama R; Shimozawa N; Tsukamoto T; Suzuki Y; Osumi T; Kondo N; Fujiki Y
    Proc Natl Acad Sci U S A; 1998 Apr; 95(8):4350-5. PubMed ID: 9539740
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
    Reuber BE; Germain-Lee E; Collins CS; Morrell JC; Ameritunga R; Moser HW; Valle D; Gould SJ
    Nat Genet; 1997 Dec; 17(4):445-8. PubMed ID: 9398847
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
    Yik WY; Steinberg SJ; Moser AB; Moser HW; Hacia JG
    Hum Mutat; 2009 Mar; 30(3):E467-80. PubMed ID: 19105186
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.
    Shimozawa N; Nagase T; Takemoto Y; Ohura T; Suzuki Y; Kondo N
    Am J Med Genet A; 2003 Jul; 120A(1):40-3. PubMed ID: 12794690
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.
    Barth PG; Majoie CB; Gootjes J; Wanders RJ; Waterham HR; van der Knaap MS; de Klerk JB; Smeitink J; Poll-The BT
    Neurology; 2004 Feb; 62(3):439-44. PubMed ID: 14872027
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.