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 *

185 related articles for article (PubMed ID: 16790503)

  • 1. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.
    Subramanian VS; Marchant JS; Said HM
    Am J Physiol Cell Physiol; 2006 Nov; 291(5):C851-9. PubMed ID: 16790503
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Targeting and trafficking of the human thiamine transporter-2 in epithelial cells.
    Subramanian VS; Marchant JS; Said HM
    J Biol Chem; 2006 Feb; 281(8):5233-45. PubMed ID: 16371350
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
    Subramanian VS; Marchant JS; Said HM
    Clin Sci (Lond); 2007 Jul; 113(2):93-102. PubMed ID: 17331069
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.
    Debs R; Depienne C; Rastetter A; Bellanger A; Degos B; Galanaud D; Keren B; Lyon-Caen O; Brice A; Sedel F
    Arch Neurol; 2010 Jan; 67(1):126-30. PubMed ID: 20065143
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Compound heterozygous
    Whitford W; Hawkins I; Glamuzina E; Wilson F; Marshall A; Ashton F; Love DR; Taylor J; Hill R; Lehnert K; Snell RG; Jacobsen JC
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28696212
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
    Değerliyurt A; Gündüz M; Ceylaner S; Ünal Ö; Ünal S
    Turk J Pediatr; 2019; 61(2):261-266. PubMed ID: 31951338
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.
    Alfadhel M; Tabarki B
    Neuropediatrics; 2018 Apr; 49(2):83-92. PubMed ID: 28962040
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia.
    Oommen AT; Polavarapu K; Christopher R; Netravathi M
    Neurol India; 2022; 70(2):733-736. PubMed ID: 35532649
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
    Baron D; Assaraf YG; Drori S; Aronheim A
    Eur J Biochem; 2003 Nov; 270(22):4469-77. PubMed ID: 14622275
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report.
    Al-Anezi A; Sotirova-Koulli V; Shalaby O; Ibrahim A; Abdulmotagalli N; Youssef R; Hossam El-Din M
    Brain Dev; 2022 Apr; 44(4):303-307. PubMed ID: 34953623
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
    Flønes I; Sztromwasser P; Haugarvoll K; Dölle C; Lykouri M; Schwarzlmüller T; Jonassen I; Miletic H; Johansson S; Knappskog PM; Bindoff LA; Tzoulis C
    PLoS One; 2016; 11(2):e0149055. PubMed ID: 26863430
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
    Kohrogi K; Imagawa E; Muto Y; Hirai K; Migita M; Mitsubuchi H; Miyake N; Matsumoto N; Nakamura K; Endo F
    J Hum Genet; 2015 Jul; 60(7):381-5. PubMed ID: 25876998
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
    Alfadhel M; Almuntashri M; Jadah RH; Bashiri FA; Al Rifai MT; Al Shalaan H; Al Balwi M; Al Rumayan A; Eyaid W; Al-Twaijri W
    Orphanet J Rare Dis; 2013 Jun; 8():83. PubMed ID: 23742248
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
    Ferreira CR; Whitehead MT; Leon E
    Am J Med Genet A; 2017 Jun; 173(6):1502-1513. PubMed ID: 28402605
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.
    Algahtani H; Ghamdi S; Shirah B; Alharbi B; Algahtani R; Bazaid A
    Neurol Res; 2017 Feb; 39(2):117-125. PubMed ID: 27905264
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.
    Schänzer A; Döring B; Ondrouschek M; Goos S; Garvalov BK; Geyer J; Acker T; Neubauer B; Hahn A
    Brain Pathol; 2014 Apr; 24(3):270-9. PubMed ID: 24372704
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement.
    Kelsch RD; Nolan DA; Krishnan A
    Pediatr Radiol; 2021 Mar; 51(3):485-488. PubMed ID: 33000323
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms.
    Subramanian VS; Marchant JS; Parker I; Said HM
    J Biol Chem; 2003 Feb; 278(6):3976-84. PubMed ID: 12454006
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.
    Alowaysi M; Baadhaim M; Al-Shehri M; Alzahrani H; Badkok A; Attas H; Zakri S; Alameer S; Malibari D; Hosawi M; Daghestani M; Al-Ghamdi K; Muharraq M; Zia A; Tegne J; Alfadhel M; Aboalola D; Alsayegh K
    Hum Cell; 2024 Sep; 37(5):1567-1577. PubMed ID: 38980565
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
    Zeng WQ; Al-Yamani E; Acierno JS; Slaugenhaupt S; Gillis T; MacDonald ME; Ozand PT; Gusella JF
    Am J Hum Genet; 2005 Jul; 77(1):16-26. PubMed ID: 15871139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.