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Items: 8

1.

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, IrigoĆ­n 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.

2.

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.

3.

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.

4.

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.

5.

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.

6.

Prevalence of vitamin D receptor gene polymorphism in a Uruguayan population and its relation to type 1 diabetes mellitus.

Mimbacas A, Trujillo J, Gascue C, Javiel G, Cardoso H.

Genet Mol Res. 2007 Sep 5;6(3):534-42.

PMID:
17985306
7.

Frequencies of the four major Amerindian mtDNA haplogroups in the population of Montevideo, Uruguay.

Gascue C, Mimbacas A, Sans M, Gallino JP, Bertoni B, Hidalgo P, Cardoso H.

Hum Biol. 2005 Dec;77(6):873-8.

PMID:
16715843
8.

Densitometry of implanted allograft ear ossicles.

Chiossone E, Gascue C.

Rev Laryngol Otol Rhinol (Bord). 1989;110(5):457-60.

PMID:
2633249

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