BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

274 related articles for article (PubMed ID: 33630762)

  • 1. Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
    Wang L; Liu Y; Stratigopoulos G; Panigrahi S; Sui L; Zhang Y; Leduc CA; Glover HJ; De Rosa MC; Burnett LC; Williams DJ; Shang L; Goland R; Tsang SH; Wardlaw S; Egli D; Zheng D; Doege CA; Leibel RL
    J Clin Invest; 2021 Apr; 131(8):. PubMed ID: 33630762
    [TBL] [Abstract][Full Text] [Related]  

  • 2. BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
    Hey CAB; Larsen LJ; Tümer Z; Brøndum-Nielsen K; Grønskov K; Hjortshøj TD; Møller LB
    Int J Mol Sci; 2021 Jan; 22(3):. PubMed ID: 33572860
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
    Seo S; Guo DF; Bugge K; Morgan DA; Rahmouni K; Sheffield VC
    Hum Mol Genet; 2009 Apr; 18(7):1323-31. PubMed ID: 19150989
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The BBSome: a nexus controlling energy metabolism in the brain.
    Blaess S; Wachten D
    J Clin Invest; 2021 Apr; 131(8):. PubMed ID: 33855975
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
    Gupta N; D'Acierno M; Zona E; Capasso G; Zacchia M
    Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):9-19. PubMed ID: 35373910
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia.
    Loktev AV; Jackson PK
    Cell Rep; 2013 Dec; 5(5):1316-29. PubMed ID: 24316073
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane.
    Guo DF; Cui H; Zhang Q; Morgan DA; Thedens DR; Nishimura D; Grobe JL; Sheffield VC; Rahmouni K
    PLoS Genet; 2016 Feb; 12(2):e1005890. PubMed ID: 26926121
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.
    Hey CAB; Saltõkowa KB; Larsen LJ; Tümer Z; Brøndum-Nielsen K; Grønskov K; Hjortshøj TD; Møller LB
    Stem Cell Res; 2018 Aug; 31():235-239. PubMed ID: 30142598
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome.
    Xie C; Habif JC; Uytingco CR; Ukhanov K; Zhang L; de Celis C; Sheffield VC; Martens JR
    FASEB J; 2021 Sep; 35(9):e21766. PubMed ID: 34383976
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.
    Hey CAB; Saltõkowa KB; Larsen LJ; Tümer Z; Brøndum-Nielsen K; Grønskov K; Hjortshøj TD; Møller LB
    Stem Cell Res; 2018 Dec; 33():46-50. PubMed ID: 30312873
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
    Zhang Q; Yu D; Seo S; Stone EM; Sheffield VC
    J Biol Chem; 2012 Jun; 287(24):20625-35. PubMed ID: 22500027
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
    Rahmouni K; Fath MA; Seo S; Thedens DR; Berry CJ; Weiss R; Nishimura DY; Sheffield VC
    J Clin Invest; 2008 Apr; 118(4):1458-67. PubMed ID: 18317593
    [TBL] [Abstract][Full Text] [Related]  

  • 13. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
    Seo S; Baye LM; Schulz NP; Beck JS; Zhang Q; Slusarski DC; Sheffield VC
    Proc Natl Acad Sci U S A; 2010 Jan; 107(4):1488-93. PubMed ID: 20080638
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.
    Starks RD; Beyer AM; Guo DF; Boland L; Zhang Q; Sheffield VC; Rahmouni K
    PLoS Genet; 2015 Jun; 11(6):e1005311. PubMed ID: 26103456
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome.
    Chakrabarty S; Savantre SB; Ramachandra Bhat C; Satyamoorthy K
    Gene; 2020 Jan; 725():144164. PubMed ID: 31639430
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
    Laurier V; Stoetzel C; Muller J; Thibault C; Corbani S; Jalkh N; Salem N; Chouery E; Poch O; Licaire S; Danse JM; Amati-Bonneau P; Bonneau D; Mégarbané A; Mandel JL; Dollfus H
    Eur J Hum Genet; 2006 Nov; 14(11):1195-203. PubMed ID: 16823392
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.
    Prasai A; Schmidt Cernohorska M; Ruppova K; Niederlova V; Andelova M; Draber P; Stepanek O; Huranova M
    J Biol Chem; 2020 Oct; 295(42):14279-14290. PubMed ID: 32759308
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
    Chamling X; Seo S; Bugge K; Searby C; Guo DF; Drack AV; Rahmouni K; Sheffield VC
    PLoS One; 2013; 8(3):e59101. PubMed ID: 23554981
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
    Kurata K; Hosono K; Hikoya A; Kato A; Saitsu H; Minoshima S; Ogata T; Hotta Y
    Jpn J Ophthalmol; 2018 Jul; 62(4):458-466. PubMed ID: 29666954
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
    Castro-Sánchez S; Álvarez-Satta M; Cortón M; Guillén E; Ayuso C; Valverde D
    J Med Genet; 2015 Aug; 52(8):503-13. PubMed ID: 26082521
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.