BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 31479441)

  • 1. Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
    Haq N; Schmidt-Hieber C; Sialana FJ; Ciani L; Heller JP; Stewart M; Bentley L; Wells S; Rodenburg RJ; Nolan PM; Forsythe E; Wu MC; Lubec G; Salinas P; Häusser M; Beales PL; Christou-Savina S
    PLoS Biol; 2019 Sep; 17(9):e3000414. PubMed ID: 31479441
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa.
    Peterson SM; McGill TJ; Puthussery T; Stoddard J; Renner L; Lewis AD; Colgin LMA; Gayet J; Wang X; Prongay K; Cullin C; Dozier BL; Ferguson B; Neuringer M
    Exp Eye Res; 2019 Dec; 189():107825. PubMed ID: 31589838
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.
    Delvallée C; Dollfus H
    Cold Spring Harb Perspect Med; 2023 Jan; 13(1):. PubMed ID: 36596648
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.
    Datta P; Allamargot C; Hudson JS; Andersen EK; Bhattarai S; Drack AV; Sheffield VC; Seo S
    Proc Natl Acad Sci U S A; 2015 Aug; 112(32):E4400-9. PubMed ID: 26216965
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular basis of the obesity associated with Bardet-Biedl syndrome.
    Guo DF; Rahmouni K
    Trends Endocrinol Metab; 2011 Jul; 22(7):286-93. PubMed ID: 21514177
    [TBL] [Abstract][Full Text] [Related]  

  • 6. BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
    Zhang Q; Nishimura D; Vogel T; Shao J; Swiderski R; Yin T; Searby C; Carter CS; Kim G; Bugge K; Stone EM; Sheffield VC
    J Cell Sci; 2013 Jun; 126(Pt 11):2372-80. PubMed ID: 23572516
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Absence of BBSome function leads to astrocyte reactivity in the brain.
    Singh M; Garrison JE; Wang K; Sheffield VC
    Mol Brain; 2019 May; 12(1):48. PubMed ID: 31072410
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.
    Bentley-Ford MR; Engle SE; Clearman KR; Haycraft CJ; Andersen RS; Croyle MJ; Rains AB; Berbari NF; Yoder BK
    Hum Mol Genet; 2021 Apr; 30(3-4):234-246. PubMed ID: 33560420
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
    Esposito G; Testa F; Zacchia M; Crispo AA; Di Iorio V; Capolongo G; Rinaldi L; D'Antonio M; Fioretti T; Iadicicco P; Rossi S; Franzè A; Marciano E; Capasso G; Simonelli F; Salvatore F
    BMC Med Genet; 2017 Feb; 18(1):10. PubMed ID: 28143435
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
    Fath MA; Mullins RF; Searby C; Nishimura DY; Wei J; Rahmouni K; Davis RE; Tayeh MK; Andrews M; Yang B; Sigmund CD; Stone EM; Sheffield VC
    Hum Mol Genet; 2005 May; 14(9):1109-18. PubMed ID: 15772095
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
    Heon E; Kim G; Qin S; Garrison JE; Tavares E; Vincent A; Nuangchamnong N; Scott CA; Slusarski DC; Sheffield VC
    Hum Mol Genet; 2016 Jun; 25(11):2283-2294. PubMed ID: 27008867
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deletion in the Bardet-Biedl Syndrome Gene
    Mäkeläinen S; Hellsand M; van der Heiden AD; Andersson E; Thorsson E; S Holst B; Häggström J; Ljungvall I; Mellersh C; Hallböök F; Andersson G; Ekesten B; Bergström TF
    Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32962042
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Bardet-Biedl syndrome: Is it only cilia dysfunction?
    Novas R; Cardenas-Rodriguez M; Irigoín F; Badano JL
    FEBS Lett; 2015 Nov; 589(22):3479-91. PubMed ID: 26231314
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
    Abd-El-Barr MM; Sykoudis K; Andrabi S; Eichers ER; Pennesi ME; Tan PL; Wilson JH; Katsanis N; Lupski JR; Wu SM
    Vision Res; 2007 Dec; 47(27):3394-407. PubMed ID: 18022666
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
    Zaghloul NA; Katsanis N
    J Clin Invest; 2009 Mar; 119(3):428-37. PubMed ID: 19252258
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.
    Blacque OE; Leroux MR
    Cell Mol Life Sci; 2006 Sep; 63(18):2145-61. PubMed ID: 16909204
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
    Bennouna-Greene V; Kremer S; Stoetzel C; Christmann D; Schuster C; Durand M; Verloes A; Sigaudy S; Holder-Espinasse M; Godet J; Brandt C; Marion V; Danion A; Dietemann JL; Dollfus H
    Clin Genet; 2011 Dec; 80(6):523-31. PubMed ID: 21517826
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Tissue-dependent differences in Bardet-Biedl syndrome gene expression.
    Patnaik SR; Farag A; Brücker L; Volz AK; Schneider S; Kretschmer V; May-Simera HL
    Biol Cell; 2020 Feb; 112(2):39-52. PubMed ID: 31845361
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.