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 *

194 related articles for article (PubMed ID: 14605509)

  • 21. 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]  

  • 22. Carnitine transport and fatty acid oxidation.
    Longo N; Frigeni M; Pasquali M
    Biochim Biophys Acta; 2016 Oct; 1863(10):2422-35. PubMed ID: 26828774
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
    Lamhonwah AM; Olpin SE; Pollitt RJ; Vianey-Saban C; Divry P; Guffon N; Besley GT; Onizuka R; De Meirleir LJ; Cvitanovic-Sojat L; Baric I; Dionisi-Vici C; Fumic K; Maradin M; Tein I
    Am J Med Genet; 2002 Aug; 111(3):271-84. PubMed ID: 12210323
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
    Filippo CA; Ardon O; Longo N
    Biochim Biophys Acta; 2011 Mar; 1812(3):312-20. PubMed ID: 21126579
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.
    Tang NL; Hwu WL; Chan RT; Law LK; Fung LM; Zhang WM
    Hum Mutat; 2002 Sep; 20(3):232. PubMed ID: 12204000
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency.
    Wang Y; Meadows TA; Longo N
    J Biol Chem; 2000 Jul; 275(27):20782-6. PubMed ID: 10783384
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. A heterozygote phenotype is present in the jvs +/- mutant mouse livers.
    Lahjouji K; Elimrani I; Wu J; Mitchell GA; Qureshi IA
    Mol Genet Metab; 2002 May; 76(1):76-80. PubMed ID: 12175785
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
    Han L; Wang F; Wang Y; Ye J; Qiu W; Zhang H; Gao X; Gong Z; Gu X
    Eur J Med Genet; 2014 Oct; 57(10):571-5. PubMed ID: 25132046
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse.
    Lu Km; Nishimori H; Nakamura Y; Shima K; Kuwajima M
    Biochem Biophys Res Commun; 1998 Nov; 252(3):590-4. PubMed ID: 9837751
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
    Li FY; El-Hattab AW; Bawle EV; Boles RG; Schmitt ES; Scaglia F; Wong LJ
    Hum Mutat; 2010 Aug; 31(8):E1632-51. PubMed ID: 20574985
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Na(+)-coupled transport of L-carnitine via high-affinity carnitine transporter OCTN2 and its subcellular localization in kidney.
    Tamai I; China K; Sai Y; Kobayashi D; Nezu J; Kawahara E; Tsuji A
    Biochim Biophys Acta; 2001 Jun; 1512(2):273-84. PubMed ID: 11406104
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Functional and pharmacological characterization of human Na(+)-carnitine cotransporter hOCTN2.
    Wagner CA; Lükewille U; Kaltenbach S; Moschen I; Bröer A; Risler T; Bröer S; Lang F
    Am J Physiol Renal Physiol; 2000 Sep; 279(3):F584-91. PubMed ID: 10966938
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
    Verbeeten KC; Lamhonwah AM; Bulman D; Faghfoury H; Chakraborty P; Tein I; Geraghty MT
    Mol Genet Metab; 2020 Mar; 129(3):213-218. PubMed ID: 31864849
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [The human OCTN2 carnitine transporter and its mutations].
    Melegh B
    Orv Hetil; 2004 Mar; 145(13):679-86. PubMed ID: 15125318
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Organic cation/carnitine transporter, OCTN2, is differentially expressed in the adult rat epididymis.
    Rodríguez CM; Labus JC; Hinton BT
    Biol Reprod; 2002 Jul; 67(1):314-9. PubMed ID: 12080034
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.
    Yilmaz BS; Kor D; Mungan NO; Erdem S; Ceylaner S
    J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1179-81. PubMed ID: 26030785
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.
    Melegh B; Bene J; Mogyorósy G; Havasi V; Komlósi K; Pajor L; Oláh E; Kispál G; Sumegi B; Méhes K
    Am J Med Genet A; 2004 Dec; 131(2):121-6. PubMed ID: 15487009
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.