BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 12915479)

  • 1. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
    Brites P; Motley AM; Gressens P; Mooyer PA; Ploegaert I; Everts V; Evrard P; Carmeliet P; Dewerchin M; Schoonjans L; Duran M; Waterham HR; Wanders RJ; Baes M
    Hum Mol Genet; 2003 Sep; 12(18):2255-67. PubMed ID: 12915479
    [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. A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
    Braverman N; Zhang R; Chen L; Nimmo G; Scheper S; Tran T; Chaudhury R; Moser A; Steinberg S
    Mol Genet Metab; 2010 Apr; 99(4):408-16. PubMed ID: 20060764
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Identification of PEX7 as the second gene involved in Refsum disease.
    van den Brink DM; Brites P; Haasjes J; Wierzbicki AS; Mitchell J; Lambert-Hamill M; de Belleroche J; Jansen GA; Waterham HR; Wanders RJ
    Am J Hum Genet; 2003 Feb; 72(2):471-7. PubMed ID: 12522768
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.
    Heikoop JC; van Roermund CW; Just WW; Ofman R; Schutgens RB; Heymans HS; Wanders RJ; Tager JM
    J Clin Invest; 1990 Jul; 86(1):126-30. PubMed ID: 2365812
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
    Phadke SR; Gupta N; Girisha KM; Kabra M; Maeda M; Vidal E; Moser A; Steinberg S; Puri RD; Verma IC; Braverman N
    J Appl Genet; 2010; 51(1):107-10. PubMed ID: 20145307
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 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. Plasmalogens participate in very-long-chain fatty acid-induced pathology.
    Brites P; Mooyer PA; El Mrabet L; Waterham HR; Wanders RJ
    Brain; 2009 Feb; 132(Pt 2):482-92. PubMed ID: 19022859
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.
    Bams-Mengerink AM; Majoie CB; Duran M; Wanders RJ; Van Hove J; Scheurer CD; Barth PG; Poll-The BT
    Neurology; 2006 Mar; 66(6):798-803; discussion 789. PubMed ID: 16567694
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.