Ciliary disorder of the skeleton - PubMed (original) (raw)

• Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.
  Deconte D, Diniz BL, Hartmann JK, de Souza MA, Zottis LFF, Zen PRG, Rosa RFM, Fiegenbaum M. Deconte D, et al. Int J Mol Sci. 2024 Jul 19;25(14):7900. doi: 10.3390/ijms25147900. Int J Mol Sci. 2024. PMID: 39063141 Free PMC article.
• Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
  Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S. Alby C, et al. Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166481 Free PMC article.
• An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
  Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
• Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
  Zhang X, You Y, Xie X, Xu H, Zhou H, Lei Y, Sun P, Meng Y, Wang L, Lu Y. Zhang X, et al. Mol Genet Genomic Med. 2020 Dec;8(12):e1524. doi: 10.1002/mgg3.1524. Epub 2020 Oct 8. Mol Genet Genomic Med. 2020. PMID: 33030252 Free PMC article.
• Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish.
  Stawicki TM, Hernandez L, Esterberg R, Linbo T, Owens KN, Shah AN, Thapa N, Roberts B, Moens CB, Rubel EW, Raible DW. Stawicki TM, et al. G3 (Bethesda). 2016 Jul 7;6(7):2225-35. doi: 10.1534/g3.116.030080. G3 (Bethesda). 2016. PMID: 27207957 Free PMC article.