CEP290 Anticorps

Barny, Perrault, Michel, Soussan, Goudin, Rio, Thomas, Attié-Bitach, Hamel, Dollfus, Kaplan, Rozet, Gerard: "Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease." dans: Human molecular genetics, (2018) (PubMed).

Dulla, Aguila, Lane, Jovanovic, Parfitt, Schulkens, Chan, Schmidt, Beumer, Vorthoren, Collin, Garanto, Duijkers, Brugulat-Panes, Semo, Vugler, Biasutto, Adamson, Cheetham: "Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models." dans: Molecular therapy. Nucleic acids, Vol. 12, pp. 730-740, (2018) (PubMed).

Bangs, Schrode, Hadjantonakis, Anderson: "Lineage specificity of primary cilia in the mouse embryo." dans: Nature cell biology, Vol. 17, Issue 2, pp. 113-22, (2015) (PubMed).

Alby, Piquand, Huber, Megarbané, Ichkou, Legendre, Pelluard, Encha-Ravazi, Abi-Tayeh, Bessières, El Chehadeh-Djebbar, Laurent, Faivre, Sztriha, Zombor, Szabó, Failler, Garfa-Traore, Bole, Nitschké et al.: "Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. ..." dans: American journal of human genetics, Vol. 97, Issue 2, pp. 311-8, (2015) (PubMed).

Slaats, Saldivar, Bacal, Zeman, Kile, Hynes, Srivastava, Nazmutdinova, den Ouden, Zagers, Foletto, Verhaar, Miles, Sayer, Cimprich, Giles: "DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome." dans: The Journal of clinical investigation, Vol. 125, Issue 9, pp. 3657-66, (2015) (PubMed).

Garanto, van Beersum, Peters, Roepman, Cremers, Collin: "Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis." dans: PLoS ONE, Vol. 8, Issue 11, pp. e79369, (2013) (PubMed).

Hopp, Heyer, Hommerding, Henke, Sundsbak, Patel, Patel, Consugar, Czarnecki, Gliem, Torres, Rossetti, Harris: "B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis." dans: Human molecular genetics, Vol. 20, Issue 13, pp. 2524-34, (2011) (PubMed).

Allocca, Doria, Petrillo, Colella, Garcia-Hoyos, Gibbs, Kim, Maguire, Rex, Di Vicino, Cutillo, Sparrow, Williams, Bennett, Auricchio: "Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice." dans: The Journal of clinical investigation, Vol. 118, Issue 5, pp. 1955-64, (2008) (PubMed).

McEwen, Koenekoop, Khanna, Jenkins, Lopez, Swaroop, Martens: "Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons." dans: Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, Issue 40, pp. 15917-22, (2007) (PubMed).

Kurtenbach, Gießl, Strömberg, Kremers, Atorf, Rasche, Neuhaus, Hervé, Brandstätter, Asan, Hatt, Kilimann: "The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golfto Olfactory Cilia." dans: Scientific reports, Vol. 7, Issue 1, pp. 8409 (PubMed).