BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 30723319)

  • 1. SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
    Wormser O; Gradstein L; Yogev Y; Perez Y; Kadir R; Goliand I; Sadka Y; El Riati S; Flusser H; Nachmias D; Birk R; Iraqi M; Kadar E; Gat R; Drabkin M; Halperin D; Horev A; Sivan S; Abdu U; Elia N; Birk OS
    Eur J Hum Genet; 2019 Jun; 27(6):928-940. PubMed ID: 30723319
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
    Kahrizi K; Huber M; Galetzka D; Dewi S; Schröder J; Weis E; Kariminejad A; Fattahi Z; Ropers HH; Schweiger S; Najmabadi H; Winter J
    Am J Med Genet A; 2019 Jul; 179(7):1214-1225. PubMed ID: 31069901
    [TBL] [Abstract][Full Text] [Related]  

  • 3.
    Sharkia R; Zalan A; Kessel A; Al-Shareef W; Zahalka H; Hengel H; Schöls L; Azem A; Mahajnah M
    Genes (Basel); 2024 Jun; 15(6):. PubMed ID: 38927727
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
    Jacoby M; Cox JJ; Gayral S; Hampshire DJ; Ayub M; Blockmans M; Pernot E; Kisseleva MV; Compère P; Schiffmann SN; Gergely F; Riley JH; Pérez-Morga D; Woods CG; Schurmans S
    Nat Genet; 2009 Sep; 41(9):1027-31. PubMed ID: 19668215
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.
    Jensen VL; Carter S; Sanders AA; Li C; Kennedy J; Timbers TA; Cai J; Scheidel N; Kennedy BN; Morin RD; Leroux MR; Blacque OE
    PLoS Genet; 2016 Dec; 12(12):e1006469. PubMed ID: 27930654
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
    Bujakowska KM; Zhang Q; Siemiatkowska AM; Liu Q; Place E; Falk MJ; Consugar M; Lancelot ME; Antonio A; Lonjou C; Carpentier W; Mohand-Saïd S; den Hollander AI; Cremers FP; Leroy BP; Gai X; Sahel JA; van den Born LI; Collin RW; Zeitz C; Audo I; Pierce EA
    Hum Mol Genet; 2015 Jan; 24(1):230-42. PubMed ID: 25168386
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.
    Jauregui R; Thomas AL; Liechty B; Velez G; Mahajan VB; Clark L; Tsang SH
    Am J Med Genet A; 2019 Feb; 179(2):312-316. PubMed ID: 30561111
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
    Lorès P; Kherraf ZE; Amiri-Yekta A; Whitfield M; Daneshipour A; Stouvenel L; Cazin C; Cavarocchi E; Coutton C; Llabador MA; Arnoult C; Thierry-Mieg N; Ferreux L; Patrat C; Hosseini SH; Mustapha SFB; Zouari R; Dulioust E; Ray PF; Touré A
    Hum Genet; 2021 Jul; 140(7):1031-1043. PubMed ID: 33689014
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins.
    Domire JS; Green JA; Lee KG; Johnson AD; Askwith CC; Mykytyn K
    Cell Mol Life Sci; 2011 Sep; 68(17):2951-60. PubMed ID: 21152952
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Syndromic retinitis pigmentosa caused by biallelic
    Yassin SH; Kalaw FGP; Li A; Fletcher E; Borooah S
    Ophthalmic Genet; 2024 Feb; 45(1):63-71. PubMed ID: 37160720
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bardet-Biedl syndrome proteins modulate the release of bioactive extracellular vesicles.
    Volz AK; Frei A; Kretschmer V; de Jesus Domingues AM; Ketting RF; Ueffing M; Boldt K; Krämer-Albers EM; May-Simera HL
    Nat Commun; 2021 Sep; 12(1):5671. PubMed ID: 34580290
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
    Berbari NF; Lewis JS; Bishop GA; Askwith CC; Mykytyn K
    Proc Natl Acad Sci U S A; 2008 Mar; 105(11):4242-6. PubMed ID: 18334641
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice.
    Husson H; Bukanov NO; Moreno S; Smith MM; Richards B; Zhu C; Picariello T; Park H; Wang B; Natoli TA; Smith LA; Zanotti S; Russo RJ; Madden SL; Klinger KW; Modur V; Ibraghimov-Beskrovnaya O
    Hum Mol Genet; 2020 Aug; 29(15):2508-2522. PubMed ID: 32620959
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Absence of SCAPER causes male infertility in humans and
    Wormser O; Levy Y; Bakhrat A; Bonaccorsi S; Graziadio L; Gatti M; AbuMadighem A; McKenney RJ; Okada K; El Riati S; Har-Vardi I; Huleihel M; Levitas E; Birk OS; Abdu U
    J Med Genet; 2021 Apr; 58(4):254-263. PubMed ID: 32527956
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export.
    Liu P; Lechtreck KF
    Proc Natl Acad Sci U S A; 2018 Jan; 115(5):E934-E943. PubMed ID: 29339469
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
    Hernandez-Hernandez V; Pravincumar P; Diaz-Font A; May-Simera H; Jenkins D; Knight M; Beales PL
    Hum Mol Genet; 2013 Oct; 22(19):3858-68. PubMed ID: 23716571
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
    Rao KN; Zhang W; Li L; Anand M; Khanna H
    Hum Mol Genet; 2016 Oct; 25(20):4533-4545. PubMed ID: 28172980
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.