Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 65

1.

A mouse model for Meckel syndrome type 3.

Cook SA, Collin GB, Bronson RT, Naggert JK, Liu DP, Akeson EC, Davisson MT.

J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11.

2.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group.

Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924.

3.

Structural and functional analyses of liver cysts from the BALB/c-cpk mouse model of polycystic kidney disease.

Muchatuta MN, Gattone VH 2nd, Witzmann FA, Blazer-Yost BL.

Exp Biol Med (Maywood). 2009 Jan;234(1):17-27. doi: 10.3181/0807-RM-215. Epub 2008 Nov 7.

4.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D.

Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23.

5.

Polycystic kidney disease.

Harris PC, Torres VE.

Annu Rev Med. 2009;60:321-37. doi: 10.1146/annurev.med.60.101707.125712. Review.

6.

Centrosome overduplication and mitotic instability in PKD2 transgenic lines.

Burtey S, Riera M, Ribe E, Pennenkamp P, Rance R, Luciani J, Dworniczak B, Mattei MG, Fontés M.

Cell Biol Int. 2008 Oct;32(10):1193-8. doi: 10.1016/j.cellbi.2008.07.021. Epub 2008 Aug 6.

PMID:
18725310
7.

Loss of polycystin-1 causes centrosome amplification and genomic instability.

Battini L, Macip S, Fedorova E, Dikman S, Somlo S, Montagna C, Gusella GL.

Hum Mol Genet. 2008 Sep 15;17(18):2819-33. doi: 10.1093/hmg/ddn180. Epub 2008 Jun 19.

8.

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M.

Am J Hum Genet. 2008 Jun;82(6):1361-7. doi: 10.1016/j.ajhg.2008.05.004.

9.

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M.

Am J Hum Genet. 2008 Apr;82(4):1011-8. doi: 10.1016/j.ajhg.2008.01.021.

10.

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H.

Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.

11.

Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.

Williams CL, Winkelbauer ME, Schafer JC, Michaud EJ, Yoder BK.

Mol Biol Cell. 2008 May;19(5):2154-68. doi: 10.1091/mbc.E07-10-1070. Epub 2008 Mar 12.

12.

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
13.

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 4;104(49):19422-7. Epub 2007 Nov 21.

14.

Oncogenes and tumour suppressors take on centrosomes.

Fukasawa K.

Nat Rev Cancer. 2007 Dec;7(12):911-24. Review.

PMID:
18004399
15.

Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome.

Clotman F, Libbrecht L, Killingsworth MC, Loo CC, Roskams T, Lemaigre FP.

Liver Int. 2008 Mar;28(3):377-84. Epub 2007 Nov 1.

PMID:
17976156
16.

When cilia go bad: cilia defects and ciliopathies.

Fliegauf M, Benzing T, Omran H.

Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93. Review. Erratum in: Nat Rev Mol Cell Biol. 2008 Jan;9(1):88.

PMID:
17955020
17.

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK.

Cell. 2007 Jun 15;129(6):1201-13.

18.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S.

Nat Genet. 2007 Jul;39(7):875-81. Epub 2007 Jun 10.

PMID:
17558409
19.

A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation.

Woollard JR, Punyashtiti R, Richardson S, Masyuk TV, Whelan S, Huang BQ, Lager DJ, vanDeursen J, Torres VE, Gattone VH, LaRusso NF, Harris PC, Ward CJ.

Kidney Int. 2007 Aug;72(3):328-36. Epub 2007 May 23.

20.

Flagellar length control in chlamydomonas--paradigm for organelle size regulation.

Wemmer KA, Marshall WF.

Int Rev Cytol. 2007;260:175-212. Review.

PMID:
17482906

Supplemental Content

Support Center