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Items: 30

1.

ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.

Adeyemo AA, Zaghloul NA, Chen G, Doumatey AP, Leitch CC, Hostelley TL, Nesmith JE, Zhou J, Bentley AR, Shriner D, Fasanmade O, Okafor G, Eghan B Jr, Agyenim-Boateng K, Chandrasekharappa S, Adeleye J, Balogun W, Owusu S, Amoah A, Acheampong J, Johnson T, Oli J, Adebamowo C; South Africa Zulu Type 2 Diabetes Case-Control Study, Collins F, Dunston G, Rotimi CN.

Nat Commun. 2019 Jul 19;10(1):3195. doi: 10.1038/s41467-019-10967-7.

2.

Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.

Nesmith JE, Hostelley TL, Leitch CC, Matern MS, Sethna S, McFarland R, Lodh S, Westlake CJ, Hertzano R, Ahmed ZM, Zaghloul NA.

Hum Mol Genet. 2019 Jul 1;28(13):2212-2223. doi: 10.1093/hmg/ddz053.

PMID:
31220269
3.

Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio.

Edie S, Zaghloul NA, Leitch CC, Klinedinst DK, Lebron J, Thole JF, McCallion AS, Katsanis N, Reeves RH.

G3 (Bethesda). 2018 Jul 2;8(7):2215-2223. doi: 10.1534/g3.118.200144.

4.

TM6SF2 rs58542926 impacts lipid processing in liver and small intestine.

O'Hare EA, Yang R, Yerges-Armstrong LM, Sreenivasan U, McFarland R, Leitch CC, Wilson MH, Narina S, Gorden A, Ryan KA, Shuldiner AR, Farber SA, Wood GC, Still CD, Gerhard GS, Robishaw JD, Sztalryd C, Zaghloul NA.

Hepatology. 2017 May;65(5):1526-1542. doi: 10.1002/hep.29021. Epub 2017 Mar 22.

5.

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.

Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA.

Nat Commun. 2016 Apr 6;7:10953. doi: 10.1038/ncomms10953.

6.

Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.

Lodh S, Hostelley TL, Leitch CC, O'Hare EA, Zaghloul NA.

Hum Mol Genet. 2016 Jan 1;25(1):57-68. doi: 10.1093/hmg/ddv447. Epub 2015 Oct 22.

7.

RFX transcription factors are essential for hearing in mice.

Elkon R, Milon B, Morrison L, Shah M, Vijayakumar S, Racherla M, Leitch CC, Silipino L, Hadi S, Weiss-Gayet M, Barras E, Schmid CD, Ait-Lounis A, Barnes A, Song Y, Eisenman DJ, Eliyahu E, Frolenkov GI, Strome SE, Durand B, Zaghloul NA, Jones SM, Reith W, Hertzano R.

Nat Commun. 2015 Oct 15;6:8549. doi: 10.1038/ncomms9549.

8.

BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF.

Leitch CC, Zaghloul NA.

PLoS One. 2014 May 27;9(5):e98687. doi: 10.1371/journal.pone.0098687. eCollection 2014.

9.

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.

Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.

J Clin Invest. 2014 May;124(5):2059-70. Epub 2014 Apr 1.

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.

Genetic deletion of trkB.T1 increases neuromuscular function.

Dorsey SG, Lovering RM, Renn CL, Leitch CC, Liu X, Tallon LJ, Sadzewicz LD, Pratap A, Ott S, Sengamalay N, Jones KM, Barrick C, Fulgenzi G, Becker J, Voelker K, Talmadge R, Harvey BK, Wyatt RM, Vernon-Pitts E, Zhang C, Shokat K, Fraser-Liggett C, Balice-Gordon RJ, Tessarollo L, Ward CW.

Am J Physiol Cell Physiol. 2012 Jan 1;302(1):C141-53. doi: 10.1152/ajpcell.00469.2010. Epub 2011 Oct 5.

12.

Brain-derived neurotrophic factor modulates antiretroviral-induced mechanical allodynia in the mouse.

Renn CL, Leitch CC, Lessans S, Rhee P, McGuire WC, Smith BA, Traub RJ, Dorsey SG.

J Neurosci Res. 2011 Oct;89(10):1551-65. doi: 10.1002/jnr.22685. Epub 2011 Jun 6.

PMID:
21647939
13.

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.

14.

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H.

Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23.

15.

In vivo evidence that truncated trkB.T1 participates in nociception.

Renn CL, Leitch CC, Dorsey SG.

Mol Pain. 2009 Oct 29;5:61. doi: 10.1186/1744-8069-5-61.

16.

Genome-wide screen identifies drug-induced regulation of the gene giant axonal neuropathy (Gan) in a mouse model of antiretroviral-induced painful peripheral neuropathy.

Dorsey SG, Leitch CC, Renn CL, Lessans S, Smith BA, Wang XM, Dionne RA.

Biol Res Nurs. 2009 Jul;11(1):7-16. doi: 10.1177/1099800409332726.

17.

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.

Li C, Inglis PN, Leitch CC, Efimenko E, Zaghloul NA, Mok CA, Davis EE, Bialas NJ, Healey MP, Héon E, Zhen M, Swoboda P, Katsanis N, Leroux MR.

PLoS Genet. 2008 Mar 28;4(3):e1000044. doi: 10.1371/journal.pgen.1000044.

18.

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
19.

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
20.

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H.

Am J Hum Genet. 2007 Jan;80(1):1-11. Epub 2006 Nov 15.

21.

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
22.

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
23.

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. Epub 2005 Sep 18. Erratum in: Nat Genet. 2005 Dec;37(12):1381.

PMID:
16170314
24.

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC.

Nat Genet. 2005 Mar;37(3):275-81. Epub 2005 Jan 30.

PMID:
15731757
25.

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.

26.

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
27.

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK.

Cell. 2004 May 14;117(4):541-52.

28.

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
29.

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
30.

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.

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