BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 10227689)

  • 1. Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
    Purdue PE; Skoneczny M; Yang X; Zhang JW; Lazarow PB
    Neurochem Res; 1999 Apr; 24(4):581-6. PubMed ID: 10227689
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
    Motley AM; Hettema EH; Hogenhout EM; Brites P; ten Asbroek AL; Wijburg FA; Baas F; Heijmans HS; Tabak HF; Wanders RJ; Distel B
    Nat Genet; 1997 Apr; 15(4):377-80. PubMed ID: 9090382
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
    Purdue PE; Zhang JW; Skoneczny M; Lazarow PB
    Nat Genet; 1997 Apr; 15(4):381-4. PubMed ID: 9090383
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
    Braverman N; Steel G; Obie C; Moser A; Moser H; Gould SJ; Valle D
    Nat Genet; 1997 Apr; 15(4):369-76. PubMed ID: 9090381
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
    Motley AM; Brites P; Gerez L; Hogenhout E; Haasjes J; Benne R; Tabak HF; Wanders RJ; Waterham HR
    Am J Hum Genet; 2002 Mar; 70(3):612-24. PubMed ID: 11781871
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
    Barøy T; Koster J; Strømme P; Ebberink MS; Misceo D; Ferdinandusse S; Holmgren A; Hughes T; Merckoll E; Westvik J; Woldseth B; Walter J; Wood N; Tvedt B; Stadskleiv K; Wanders RJ; Waterham HR; Frengen E
    Hum Mol Genet; 2015 Oct; 24(20):5845-54. PubMed ID: 26220973
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
    Braverman N; Chen L; Lin P; Obie C; Steel G; Douglas P; Chakraborty PK; Clarke JT; Boneh A; Moser A; Moser H; Valle D
    Hum Mutat; 2002 Oct; 20(4):284-97. PubMed ID: 12325024
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.
    Mohamadynejad P; Ghaedi K; Shafeghati Y; Salamian A; Tanhaie S; Karamali F; Rabiee F; Parivar K; Baharvand H; Nasr-Esfahani MH
    Gene; 2013 Apr; 518(2):461-6. PubMed ID: 23357221
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
    Slawecki ML; Dodt G; Steinberg S; Moser AB; Moser HW; Gould SJ
    J Cell Sci; 1995 May; 108 ( Pt 5)():1817-29. PubMed ID: 7544797
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p.
    Miyauchi-Nanri Y; Mukai S; Kuroda K; Fujiki Y
    Biochem J; 2014 Oct; 463(1):65-74. PubMed ID: 24989250
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
    Braverman N; Steel G; Lin P; Moser A; Moser H; Valle D
    Genomics; 2000 Jan; 63(2):181-92. PubMed ID: 10673331
    [TBL] [Abstract][Full Text] [Related]  

  • 12. C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.
    Salamian A; Mohamadynejad P; Ghaedi K; Nejati AS; Shafeghati Y; Ahnak MB; Nematollahi M; Karbalaie K; Hadipour F; Baharvand H; Nasr-Esfahani MH
    Ann Clin Lab Sci; 2013; 43(1):76-80. PubMed ID: 23462609
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.
    Shimozawa N; Suzuki Y; Zhang Z; Miura K; Matsumoto A; Nagaya M; Castillo-Taucher S; Kondo N
    J Hum Genet; 1999; 44(2):123-5. PubMed ID: 10083738
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
    Ofman R; Hettema EH; Hogenhout EM; Caruso U; Muijsers AO; Wanders RJ
    Hum Mol Genet; 1998 May; 7(5):847-53. PubMed ID: 9536089
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pex18p and Pex21p, a novel pair of related peroxins essential for peroxisomal targeting by the PTS2 pathway.
    Purdue PE; Yang X; Lazarow PB
    J Cell Biol; 1998 Dec; 143(7):1859-69. PubMed ID: 9864360
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
    Çim A; Coşkun S; Görükmez O; Yüksel H; Uluca Ü; Pietro ED; Plourde F; Braverman NE
    J Clin Res Pediatr Endocrinol; 2015 Mar; 7(1):69-72. PubMed ID: 25800479
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.
    Muratoğlu Şahin N; Bilici ME; Kurnaz E; Pala Akdoğan M; Ceylaner S; Aycan Z
    J Pediatr Endocrinol Metab; 2017 Aug; 30(8):889-892. PubMed ID: 28742517
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris.
    Elgersma Y; Elgersma-Hooisma M; Wenzel T; McCaffery JM; Farquhar MG; Subramani S
    J Cell Biol; 1998 Feb; 140(4):807-20. PubMed ID: 9472033
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.
    Barth PG; Wanders RJ; Schutgens RB; Staalman CR
    Am J Med Genet; 1996 Mar; 62(2):164-8. PubMed ID: 8882397
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells.
    Mukai S; Ghaedi K; Fujiki Y
    J Biol Chem; 2002 Mar; 277(11):9548-61. PubMed ID: 11756410
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.