310 related articles for article (PubMed ID: 18299575)
1. Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
Shah AS; Farmen SL; Moninger TO; Businga TR; Andrews MP; Bugge K; Searby CC; Nishimura D; Brogden KA; Kline JN; Sheffield VC; Welsh MJ
Proc Natl Acad Sci U S A; 2008 Mar; 105(9):3380-5. PubMed ID: 18299575
[TBL] [Abstract][Full Text] [Related]
2. Bardet Biedl syndrome: motile ciliary phenotype.
Shoemark A; Dixon M; Beales PL; Hogg CL
Chest; 2015 Mar; 147(3):764-770. PubMed ID: 25317630
[TBL] [Abstract][Full Text] [Related]
3. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Seo S; Guo DF; Bugge K; Morgan DA; Rahmouni K; Sheffield VC
Hum Mol Genet; 2009 Apr; 18(7):1323-31. PubMed ID: 19150989
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
Mykytyn K; Mullins RF; Andrews M; Chiang AP; Swiderski RE; Yang B; Braun T; Casavant T; Stone EM; Sheffield VC
Proc Natl Acad Sci U S A; 2004 Jun; 101(23):8664-9. PubMed ID: 15173597
[TBL] [Abstract][Full Text] [Related]
6. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Davis RE; Swiderski RE; Rahmouni K; Nishimura DY; Mullins RF; Agassandian K; Philp AR; Searby CC; Andrews MP; Thompson S; Berry CJ; Thedens DR; Yang B; Weiss RM; Cassell MD; Stone EM; Sheffield VC
Proc Natl Acad Sci U S A; 2007 Dec; 104(49):19422-7. PubMed ID: 18032602
[TBL] [Abstract][Full Text] [Related]
7. Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome.
Mokrzan EM; Lewis JS; Mykytyn K
Nephron Exp Nephrol; 2007; 106(3):e88-96. PubMed ID: 17519557
[TBL] [Abstract][Full Text] [Related]
8. Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
Kaushik AP; Martin JA; Zhang Q; Sheffield VC; Morcuende JA
J Orthop Res; 2009 Aug; 27(8):1093-9. PubMed ID: 19195025
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions.
May-Simera HL; Ross A; Rix S; Forge A; Beales PL; Jagger DJ
J Comp Neurol; 2009 May; 514(2):174-88. PubMed ID: 19396898
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H; Stoetzel C; Laurier V; Caron S; Sigaudy S; Sarda P; Hamel C; Martin-Coignard D; Gilles M; Leheup B; Holder M; Kaplan J; Bitoun P; Lacombe D; Verloes A; Bonneau D; Perrin-Schmitt F; Brandt C; Besancon AF; Mandel JL; Cossée M; Dollfus H
Eur J Hum Genet; 2005 May; 13(5):607-16. PubMed ID: 15770229
[TBL] [Abstract][Full Text] [Related]
13. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
Badano JL; Kim JC; Hoskins BE; Lewis RA; Ansley SJ; Cutler DJ; Castellan C; Beales PL; Leroux MR; Katsanis N
Hum Mol Genet; 2003 Jul; 12(14):1651-9. PubMed ID: 12837689
[TBL] [Abstract][Full Text] [Related]
14. Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.
Beyer AM; Guo DF; Sheffield VC; Rahmouni K
Am J Physiol Heart Circ Physiol; 2010 Dec; 299(6):H1902-7. PubMed ID: 20852044
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Ross AJ; May-Simera H; Eichers ER; Kai M; Hill J; Jagger DJ; Leitch CC; Chapple JP; Munro PM; Fisher S; Tan PL; Phillips HM; Leroux MR; Henderson DJ; Murdoch JN; Copp AJ; Eliot MM; Lupski JR; Kemp DT; Dollfus H; Tada M; Katsanis N; Forge A; Beales PL
Nat Genet; 2005 Oct; 37(10):1135-40. PubMed ID: 16170314
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model.
Agassandian K; Patel M; Agassandian M; Steren KE; Rahmouni K; Sheffield VC; Card JP
PLoS One; 2014; 9(4):e93484. PubMed ID: 24695551
[TBL] [Abstract][Full Text] [Related]
20. Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
M'hamdi O; Redin C; Stoetzel C; Ouertani I; Chaabouni M; Maazoul F; M'rad R; Mandel JL; Dollfus H; Muller J; Chaabouni H
Clin Genet; 2014 Feb; 85(2):172-7. PubMed ID: 23432027
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]