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Items: 1 to 20 of 42

1.

Making sense of cilia in disease: the human ciliopathies.

Baker K, Beales PL.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi: 10.1002/ajmg.c.30231. Review.

PMID:
19876933
2.

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP.

Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002.

3.

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.

Delous M, Hellman NE, Gaudé HM, Silbermann F, Le Bivic A, Salomon R, Antignac C, Saunier S.

Hum Mol Genet. 2009 Dec 15;18(24):4711-23. doi: 10.1093/hmg/ddp434.

4.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250.

5.

Culturing MDCK cells in three dimensions for analyzing intracellular dynamics.

Elia N, Lippincott-Schwartz J.

Curr Protoc Cell Biol. 2009 Jun;Chapter 4:Unit 4.22. doi: 10.1002/0471143030.cb0422s43.

6.

Apical lumen formation in renal epithelia.

Schlüter MA, Margolis B.

J Am Soc Nephrol. 2009 Jul;20(7):1444-52. doi: 10.1681/ASN.2008090949. Review.

7.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N.

Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366.

8.

Advances in the pathogenesis and treatment of polycystic kidney disease.

Patel V, Chowdhury R, Igarashi P.

Curr Opin Nephrol Hypertens. 2009 Mar;18(2):99-106. doi: 10.1097/MNH.0b013e3283262ab0. Review.

9.

A systematic approach to mapping recessive disease genes in individuals from outbred populations.

Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA.

PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353.

10.

Nephronophthisis.

Simms RJ, Eley L, Sayer JA.

Eur J Hum Genet. 2009 Apr;17(4):406-16. doi: 10.1038/ejhg.2008.238.

11.

Role of vasopressin antagonists.

Torres VE.

Clin J Am Soc Nephrol. 2008 Jul;3(4):1212-8. doi: 10.2215/CJN.05281107. Review.

12.

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.

Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F.

J Am Soc Nephrol. 2008 Mar;19(3):587-92. doi: 10.1681/ASN.2007040490.

13.

Sensitive cilia set up the kidney.

Kim E, Walz G.

Nat Med. 2007 Dec;13(12):1409-11. No abstract available.

PMID:
18064029
14.

Cep164, a novel centriole appendage protein required for primary cilium formation.

Graser S, Stierhof YD, Lavoie SB, Gassner OS, Lamla S, Le Clech M, Nigg EA.

J Cell Biol. 2007 Oct 22;179(2):321-30.

15.

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.

Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M.

Nat Genet. 2007 Aug;39(8):1018-24.

PMID:
17618285
16.

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.

PMID:
17558409
17.

Nephronophthisis-associated ciliopathies.

Hildebrandt F, Zhou W.

J Am Soc Nephrol. 2007 Jun;18(6):1855-71. Review.

18.

The proteome of the mouse photoreceptor sensory cilium complex.

Liu Q, Tan G, Levenkova N, Li T, Pugh EN Jr, Rux JJ, Speicher DW, Pierce EA.

Mol Cell Proteomics. 2007 Aug;6(8):1299-317.

19.

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia.

Gherman A, Davis EE, Katsanis N.

Nat Genet. 2006 Sep;38(9):961-2. No abstract available.

PMID:
16940995
20.

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH.

Hum Genet. 2006 Sep;120(2):171-8.

PMID:
16783569
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