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Items: 40

1.

A novel form of Deleted in breast cancer 1 (DBC1) lacking the N-terminal domain does not bind SIRT1 and is dynamically regulated in vivo.

Santos L, Colman L, Contreras P, Chini CC, Carlomagno A, Leyva A, Bresque M, Marmisolle I, Quijano C, Durán R, Irigoín F, Prieto-Echagüe V, Vendelbo MH, Sotelo-Silveira JR, Chini EN, Badano JL, Calliari AJ, Escande C.

Sci Rep. 2019 Oct 7;9(1):14381. doi: 10.1038/s41598-019-50789-7.

2.

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.

Castro-Sánchez S, Suarez-Bregua P, Novas R, Álvarez-Satta M, Badano JL, Rotllant J, Valverde D.

Sci Rep. 2019 Sep 10;9(1):12936. doi: 10.1038/s41598-019-49217-7.

3.

Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.

Novas R, Cardenas-Rodriguez M, Lepanto P, Fabregat M, Rodao M, Fariello MI, Ramos M, Davison C, Casanova G, Alfaya L, Lecumberry F, González-Sapienza G, Irigoín F, Badano JL.

Sci Rep. 2018 Feb 14;8(1):3019. doi: 10.1038/s41598-018-21329-6.

4.

BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.

Prieto-Echagüe V, Lodh S, Colman L, Bobba N, Santos L, Katsanis N, Escande C, Zaghloul NA, Badano JL.

Sci Rep. 2017 Aug 29;7(1):9765. doi: 10.1038/s41598-017-10330-0.

5.

Neuron's little helper: The role of primary cilia in neurogenesis.

Lepanto P, Badano JL, Zolessi FR.

Neurogenesis (Austin). 2016 Oct 27;3(1):e1253363. doi: 10.1080/23262133.2016.1253363. eCollection 2016. Review.

6.

Ciliary Entry of the Hedgehog Transcriptional Activator Gli2 Is Mediated by the Nuclear Import Machinery but Differs from Nuclear Transport in Being Imp-α/β1-Independent.

Torrado B, Graña M, Badano JL, Irigoín F.

PLoS One. 2016 Aug 31;11(8):e0162033. doi: 10.1371/journal.pone.0162033. eCollection 2016.

7.

Characterization of primary cilia during the differentiation of retinal ganglion cells in the zebrafish.

Lepanto P, Davison C, Casanova G, Badano JL, Zolessi FR.

Neural Dev. 2016 Apr 6;11:10. doi: 10.1186/s13064-016-0064-z.

8.

Bardet-Biedl syndrome: Is it only cilia dysfunction?

Novas R, Cardenas-Rodriguez M, Irigoín F, Badano JL.

FEBS Lett. 2015 Nov 14;589(22):3479-91. doi: 10.1016/j.febslet.2015.07.031. Epub 2015 Jul 29. Review.

9.

Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules.

Shigunov P, Sotelo-Silveira J, Stimamiglio MA, Kuligovski C, Irigoín F, Badano JL, Munroe D, Correa A, Dallagiovanna B.

BMC Mol Biol. 2014 Jul 3;15:12. doi: 10.1186/1471-2199-15-12.

10.

Basal body proteins regulate Notch signaling through endosomal trafficking.

Leitch CC, Lodh S, Prieto-Echagüe V, Badano JL, Zaghloul NA.

J Cell Sci. 2014 Jun 1;127(Pt 11):2407-19. doi: 10.1242/jcs.130344. Epub 2014 Mar 28.

11.

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.

Cardenas-Rodriguez M, Irigoín F, Osborn DP, Gascue C, Katsanis N, Beales PL, Badano JL.

Hum Mol Genet. 2013 Oct 15;22(20):4031-42. doi: 10.1093/hmg/ddt253. Epub 2013 May 31.

12.

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.

Cardenas-Rodriguez M, Osborn DP, Irigoín F, Graña M, Romero H, Beales PL, Badano JL.

Hum Genet. 2013 Jan;132(1):91-105. doi: 10.1007/s00439-012-1228-5. Epub 2012 Sep 27.

PMID:
23015189
13.

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.

Gascue C, Tan PL, Cardenas-Rodriguez M, Libisch G, Fernandez-Calero T, Liu YP, Astrada S, Robello C, Naya H, Katsanis N, Badano JL.

J Cell Sci. 2012 Jan 15;125(Pt 2):362-75. doi: 10.1242/jcs.089375. Epub 2012 Feb 2.

14.

Keeping the balance between proliferation and differentiation: the primary cilium.

Irigoín F, Badano JL.

Curr Genomics. 2011 Jun;12(4):285-97. doi: 10.2174/138920211795860134.

15.

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.

Gascue C, Katsanis N, Badano JL.

Pediatr Nephrol. 2011 Aug;26(8):1181-95. doi: 10.1007/s00467-010-1697-5. Epub 2010 Nov 27. Review.

16.

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Oh EC, Leitch CC, Bromberg Y, Binkley J, Leibel RL, Sidow A, Badano JL, Katsanis N.

Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10602-7. doi: 10.1073/pnas.1000219107. Epub 2010 May 24.

17.

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.

Cardenas-Rodriguez M, Badano JL.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):263-80. doi: 10.1002/ajmg.c.30227. Review.

PMID:
19876935
18.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. doi: 10.1073/pnas.0901219106. Epub 2009 Jul 31.

19.

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N.

Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Erratum in: Nat Genet. 2008 Jul;40(7):927. Al-Fadhel, Majid [corrected to Alfadhel, Majid].

PMID:
18327255
20.

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.

Gerdes JM, Liu Y, Zaghloul NA, Leitch CC, Lawson SS, Kato M, Beachy PA, Beales PL, DeMartino GN, Fisher S, Badano JL, Katsanis N.

Nat Genet. 2007 Nov;39(11):1350-60. Epub 2007 Sep 30.

PMID:
17906624
21.

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA.

Hum Mol Genet. 2007 Jan 15;16(2):173-86. Epub 2006 Dec 21.

PMID:
17185389
22.

Life without centrioles: cilia in the spotlight.

Badano JL, Katsanis N.

Cell. 2006 Jun 30;125(7):1228-30.

23.

The ciliopathies: an emerging class of human genetic disorders.

Badano JL, Mitsuma N, Beales PL, Katsanis N.

Annu Rev Genomics Hum Genet. 2006;7:125-48. Review.

PMID:
16722803
24.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H.

Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2. Erratum in: Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo [corrected to Silva, Eduardo D].

PMID:
16582908
25.

Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N.

Nature. 2006 Jan 19;439(7074):326-30. Epub 2005 Dec 4.

PMID:
16327777
26.

A manually curated functional annotation of the human X chromosome.

Harsha HC, Suresh S, Amanchy R, Deshpande N, Shanker K, Yatish AJ, Muthusamy B, Vrushabendra BM, Rashmi BP, Chandrika KN, Padma N, Sharma S, Badano JL, Ramya MA, Shivashankar HN, Peri S, Choudhury DR, Kavitha MP, Saravana R, Niranjan V, Gandhi TK, Ghosh N, Chandran S, Menezes M, Joy M, Mohan SS, Katsanis N, Deshpande KS, Raghothama C, Prasad CK, Pandey A.

Nat Genet. 2005 Apr;37(4):331-2. No abstract available.

PMID:
15800640
27.

The centrosome in human genetic disease.

Badano JL, Teslovich TM, Katsanis N.

Nat Rev Genet. 2005 Mar;6(3):194-205. Review.

PMID:
15738963
28.

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.

Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL, Archibald JM, Katsanis N, Rattner JB, Leroux MR.

J Cell Sci. 2005 Mar 1;118(Pt 5):1007-20.

29.

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N.

Nat Genet. 2004 Sep;36(9):994-8. Epub 2004 Aug 22.

PMID:
15322545
30.

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR.

Nat Genet. 2004 Sep;36(9):989-93. Epub 2004 Aug 15.

PMID:
15314642
31.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.

Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR.

Genes Dev. 2004 Jul 1;18(13):1630-42.

32.

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL.

Nat Genet. 2004 May;36(5):462-70. Epub 2004 Apr 25.

PMID:
15107855
33.

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N.

Nature. 2003 Oct 9;425(6958):628-33. Epub 2003 Sep 21.

PMID:
14520415
34.

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 15;12(14):1651-9.

PMID:
12837689
35.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N.

Am J Hum Genet. 2003 May;72(5):1187-99. Epub 2003 Apr 3.

36.

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N.

Am J Hum Genet. 2003 Mar;72(3):650-8. Epub 2003 Feb 3.

37.

Beyond Mendel: an evolving view of human genetic disease transmission.

Badano JL, Katsanis N.

Nat Rev Genet. 2002 Oct;3(10):779-89. Review.

PMID:
12360236
38.

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR.

Science. 2001 Sep 21;293(5538):2256-9.

39.
40.

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.

Am J Hum Genet. 2000 Nov;67(5):1327-32. Epub 2000 Oct 3.

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