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 *

158 related articles for article (PubMed ID: 10783384)

  • 21. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
    Nezu J; Tamai I; Oku A; Ohashi R; Yabuuchi H; Hashimoto N; Nikaido H; Sai Y; Koizumi A; Shoji Y; Takada G; Matsuishi T; Yoshino M; Kato H; Ohura T; Tsujimoto G; Hayakawa J; Shimane M; Tsuji A
    Nat Genet; 1999 Jan; 21(1):91-4. PubMed ID: 9916797
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
    Mayatepek E; Nezu J; Tamai I; Oku A; Katsura M; Shimane M; Tsuji A
    Hum Mutat; 2000 Jan; 15(1):118. PubMed ID: 10612840
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
    Vaz FM; Scholte HR; Ruiter J; Hussaarts-Odijk LM; Pereira RR; Schweitzer S; de Klerk JB; Waterham HR; Wanders RJ
    Hum Genet; 1999; 105(1-2):157-61. PubMed ID: 10480371
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein.
    Ohashi R; Tamai I; Inano A; Katsura M; Sai Y; Nezu J; Tsuji A
    J Pharmacol Exp Ther; 2002 Sep; 302(3):1286-94. PubMed ID: 12183691
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Functional and molecular studies in primary carnitine deficiency.
    Frigeni M; Balakrishnan B; Yin X; Calderon FRO; Mao R; Pasquali M; Longo N
    Hum Mutat; 2017 Dec; 38(12):1684-1699. PubMed ID: 28841266
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular cloning and functional characterization of the OCTN2 transporter at the RBE4 cells, an in vitro model of the blood-brain barrier.
    Friedrich A; Prasad PD; Freyer D; Ganapathy V; Brust P
    Brain Res; 2003 Apr; 968(1):69-79. PubMed ID: 12644265
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Cardiomyopathy and carnitine deficiency.
    Amat di San Filippo C; Taylor MR; Mestroni L; Botto LD; Longo N
    Mol Genet Metab; 2008 Jun; 94(2):162-6. PubMed ID: 18337137
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.
    Spiekerkoetter U; Huener G; Baykal T; Demirkol M; Duran M; Wanders R; Nezu J; Mayatepek E
    J Inherit Metab Dis; 2003; 26(6):613-5. PubMed ID: 14605509
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Transport of L-carnitine in human corneal and conjunctival epithelial cells.
    Xu S; Flanagan JL; Simmons PA; Vehige J; Willcox MD; Garrett Q
    Mol Vis; 2010 Sep; 16():1823-31. PubMed ID: 21045919
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Carnitine transport: pathophysiology and metabolism of known molecular defects.
    Tein I
    J Inherit Metab Dis; 2003; 26(2-3):147-69. PubMed ID: 12889657
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).
    Tamai I
    Biopharm Drug Dispos; 2013 Jan; 34(1):29-44. PubMed ID: 22952014
    [TBL] [Abstract][Full Text] [Related]  

  • 32. L-Carnitine transport in mouse renal and intestinal brush-border and basolateral membrane vesicles.
    Lahjouji K; Malo C; Mitchell GA; Qureshi IA
    Biochim Biophys Acta; 2002 Jan; 1558(1):82-93. PubMed ID: 11750267
    [TBL] [Abstract][Full Text] [Related]  

  • 33. GFP-Human high-affinity carnitine transporter OCTN2 protein: subcellular localization and functional restoration of carnitine uptake in mutant cell lines with the carnitine transporter defect.
    Lamhonwah AM; Tein I
    Biochem Biophys Res Commun; 1999 Nov; 264(3):909-14. PubMed ID: 10544029
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
    Burwinkel B; Kreuder J; Schweitzer S; Vorgerd M; Gempel K; Gerbitz KD; Kilimann MW
    Biochem Biophys Res Commun; 1999 Aug; 261(2):484-7. PubMed ID: 10425211
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
    Makhseed N; Vallance HD; Potter M; Waters PJ; Wong LT; Lillquist Y; Pasquali M; Amat di San Filippo C; Longo N
    J Inherit Metab Dis; 2004; 27(6):778-80. PubMed ID: 15617188
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Functional regions of organic cation/carnitine transporter OCTN2 (SLC22A5): roles in carnitine recognition.
    Inano A; Sai Y; Kato Y; Tamai I; Ishiguro M; Tsuji A
    Drug Metab Pharmacokinet; 2004 Jun; 19(3):180-9. PubMed ID: 15499185
    [TBL] [Abstract][Full Text] [Related]  

  • 37. beta-lactam antibiotics as substrates for OCTN2, an organic cation/carnitine transporter.
    Ganapathy ME; Huang W; Rajan DP; Carter AL; Sugawara M; Iseki K; Leibach FH; Ganapathy V
    J Biol Chem; 2000 Jan; 275(3):1699-707. PubMed ID: 10636865
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
    Cederbaum SD; Koo-McCoy S; Tein I; Hsu BY; Ganguly A; Vilain E; Dipple K; Cvitanovic-Sojat L; Stanley C
    Mol Genet Metab; 2002 Nov; 77(3):195-201. PubMed ID: 12409266
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Functional characterization of the carnitine transporter defective in primary carnitine deficiency.
    Scaglia F; Wang Y; Longo N
    Arch Biochem Biophys; 1999 Apr; 364(1):99-106. PubMed ID: 10087170
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Biopharmaceutical studies on molecular mechanisms of membrane transport].
    Tsuji A
    Yakugaku Zasshi; 2002 Dec; 122(12):1037-58. PubMed ID: 12510384
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.