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Journal Abstract Search

122 related items for PubMed ID: 10425213

  • 1. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene.
    Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Carstea ED.
    Biochem Biophys Res Commun; 1999 Aug 02; 261(2):493-8. PubMed ID: 10425213
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  • 2. Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1.
    Davies JP, Levy B, Ioannou YA.
    Genomics; 2000 Apr 15; 65(2):137-45. PubMed ID: 10783261
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  • 3. Positional cloning utilizing genomic DNA microarrays: the Niemann-Pick type C gene as a model system.
    Stephan DA, Chen Y, Jiang Y, Malechek L, Gu JZ, Robbins CM, Bittner ML, Morris JA, Carstea E, Meltzer PS, Adler K, Garlick R, Trent JM, Ashlock MA.
    Mol Genet Metab; 2000 May 15; 70(1):10-8. PubMed ID: 10833327
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  • 4. The structure and function of the Niemann-Pick C1 protein.
    Ioannou YA.
    Mol Genet Metab; 2000 May 15; 71(1-2):175-81. PubMed ID: 11001808
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  • 5. Isolation and molecular characterization of the porcine stearoyl-CoA desaturase gene.
    Ren J, Knorr C, Huang L, Brenig B.
    Gene; 2004 Sep 29; 340(1):19-30. PubMed ID: 15556291
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  • 6. Genomic organization and promoter identification of the human protein kinase CK2 catalytic subunit alpha (CSNK2A1).
    Wirkner U, Voss H, Ansorge W, Pyerin W.
    Genomics; 1998 Feb 15; 48(1):71-8. PubMed ID: 9503018
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  • 7. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
    Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT.
    Mol Genet Metab; 2005 Feb 15; 86(1-2):220-32. PubMed ID: 16126423
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  • 8. Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients.
    Yamamoto T, Feng JH, Higaki K, Taniguchi M, Nanba E, Ninomiya H, Ohno K.
    Brain Dev; 2004 Jun 15; 26(4):245-50. PubMed ID: 15130691
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  • 9. Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
    Puy H, Robréau AM, Rosipal R, Nordmann Y, Deybach JC.
    Biochem Biophys Res Commun; 1996 Sep 04; 226(1):226-30. PubMed ID: 8806618
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  • 12. A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
    Di Leo E, Panico F, Tarugi P, Battisti C, Federico A, Calandra S.
    Hum Mutat; 2004 Nov 04; 24(5):440. PubMed ID: 15459971
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  • 15. Genomic structure of the gene encoding human 3-hydroxy-3-methyl-glutaryl coenzyme A reductase: comparison of exon/intron organization of sterol-sensing domains among four related genes.
    Nakajima T, Iwaki K, Hamakubo T, Kodama T, Emi M.
    J Hum Genet; 2000 Nov 04; 45(5):284-9. PubMed ID: 11043510
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  • 16. Fine structure of the human translocation protein 1 (HTP1/TLOC1) gene.
    Daimon M, Susa S, Kato T.
    IUBMB Life; 1999 Dec 04; 48(6):619-24. PubMed ID: 10683767
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  • 17. Adenovirus expressing an NPC1-GFP fusion gene corrects neuronal and nonneuronal defects associated with Niemann pick type C disease.
    Paul CA, Reid PC, Boegle AK, Karten B, Zhang M, Jiang ZG, Franz D, Lin L, Chang TY, Vance JE, Blanchette-Mackie J, Maue RA.
    J Neurosci Res; 2005 Sep 01; 81(5):706-19. PubMed ID: 16015597
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  • 19. Genomic characterization and expression of mouse prestin, the motor protein of outer hair cells.
    Zheng J, Long KB, Matsuda KB, Madison LD, Ryan AD, Dallos PD.
    Mamm Genome; 2003 Feb 01; 14(2):87-96. PubMed ID: 12584604
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