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Items: 9

1.
Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision
Ludovica Ciampi, Federica Mantica, Laura López-Blanch, Jon Permanyer, Cristina Rodriguez-Marín, Jingjing Zang, Damiano Cianferoni, Senda Jiménez-Delgado, Sophie Bonnal, Samuel Miravet-Verde, Verena Ruprecht, Stephan C. F. Neuhauss, Sandro Banfi, Sabrina Carrella, Luis Serrano, Sarah A. Head, Manuel Irimia
Proc Natl Acad Sci U S A. 2022 Jul 19; 119(29): e2117090119. Published online 2022 Jul 12. doi: 10.1073/pnas.2117090119
PMCID:
PMC9303857
AbstractArticlePDF–3.6M
2.
Gene evolution and gene expression after whole genome duplication in fish: the PhyloFish database
Jeremy Pasquier, Cédric Cabau, Thaovi Nguyen, Elodie Jouanno, Dany Severac, Ingo Braasch, Laurent Journot, Pierre Pontarotti, Christophe Klopp, John H. Postlethwait, Yann Guiguen, Julien Bobe
BMC Genomics. 2016; 17: 368. Published online 2016 May 18. doi: 10.1186/s12864-016-2709-z
PMCID:
PMC4870732
AbstractArticlePDF–1.8M
3.
Basal body proteins regulate Notch signaling through endosomal trafficking
Carmen C. Leitch, Sukanya Lodh, Victoria Prieto-Echagüe, Jose L. Badano, Norann A. Zaghloul
J Cell Sci. 2014 Jun 1; 127(11): 2407–2419. doi: 10.1242/jcs.130344
PMCID:
PMC4038940
AbstractArticle
4.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
5.
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
Pamela R. Pretorius, Mohammed A. Aldahmesh, Fowzan S. Alkuraya, Val C. Sheffield, Diane C. Slusarski
Hum Mol Genet. 2011 Apr 15; 20(8): 1625–1632. Published online 2011 Jan 31. doi: 10.1093/hmg/ddr039
PMCID:
PMC3063988
AbstractArticlePDF–356K
6.
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning
Marwan K. Tayeh, Hsan-Jan Yen, John S. Beck, Charles C. Searby, Trudi A. Westfall, Hilary Griesbach, Val C. Sheffield, Diane C. Slusarski
Hum Mol Genet. 2008 Jul 1; 17(13): 1956–1967. Published online 2008 Apr 1. doi: 10.1093/hmg/ddn093
PMCID:
PMC2900902
AbstractArticlePDF–631K
7.
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome
Norann A. Zaghloul, Yangjian Liu, Jantje M. Gerdes, Cecilia Gascue, Edwin C. Oh, Carmen C. Leitch, Yana Bromberg, Jonathan Binkley, Rudolph L. Leibel, Arend Sidow, Jose L. Badano, Nicholas Katsanis
Proc Natl Acad Sci U S A. 2010 Jun 8; 107(23): 10602–10607. Published online 2010 May 24. doi: 10.1073/pnas.1000219107
PMCID:
PMC2890780
AbstractArticlePDF–671K
8.
Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
Pamela R. Pretorius, Lisa M. Baye, Darryl Y. Nishimura, Charles C. Searby, Kevin Bugge, Baoli Yang, Robert F. Mullins, Edwin M. Stone, Val C. Sheffield, Diane C. Slusarski
PLoS Genet. 2010 Mar; 6(3): e1000884. Published online 2010 Mar 19. doi: 10.1371/journal.pgen.1000884
PMCID:
PMC2841623
AbstractArticlePDF–1.9M
9.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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