Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 27

1.

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attié-Bitach T, Johnson CA, García-Verdugo JM, Katsanis N, Bergmann C, Reiter JF.

Am J Hum Genet. 2011 Jul 15;89(1):94-110. doi: 10.1016/j.ajhg.2011.06.003. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589. Zaghloul, Norran A [corrected to Zaghloul, Norann A].

2.

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Vujic M, Heyer CM, Ars E, Hopp K, Markoff A, Orndal C, Rudenhed B, Nasr SH, Torres VE, Torra R, Bogdanova N, Harris PC.

J Am Soc Nephrol. 2010 Jul;21(7):1097-102. doi: 10.1681/ASN.2009101070. Epub 2010 Jun 17.

3.

Functional modules, mutational load and human genetic disease.

Zaghloul NA, Katsanis N.

Trends Genet. 2010 Apr;26(4):168-76. doi: 10.1016/j.tig.2010.01.006. Epub 2010 Mar 11. Review.

4.

Molecular diagnostics for autosomal dominant polycystic kidney disease.

Harris PC, Rossetti S.

Nat Rev Nephrol. 2010 Apr;6(4):197-206. doi: 10.1038/nrneph.2010.18. Epub 2010 Feb 23. Review.

5.

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

Rossetti S, Kubly VJ, Consugar MB, Hopp K, Roy S, Horsley SW, Chauveau D, Rees L, Barratt TM, van't Hoff WG, Niaudet P, Torres VE, Harris PC.

Kidney Int. 2009 Apr;75(8):848-55. doi: 10.1038/ki.2008.686. Epub 2009 Jan 21. Erratum in: Kidney Int. 2010 Feb;77(4):368. Niaudet, W Patrick [corrected to Niaudet, Patrick]. Kidney Int. 2009 Jun;75(12):1359.

6.

Polycystic kidney disease.

Harris PC, Torres VE.

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

7.

Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.

Bergmann C, Brüchle NO, Frank V, Rehder H, Zerres K.

N Engl J Med. 2008 Jul 17;359(3):318-9. doi: 10.1056/NEJMc0801868. No abstract available.

8.

Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease.

Williams SS, Cobo-Stark P, James LR, Somlo S, Igarashi P.

Pediatr Nephrol. 2008 May;23(5):733-41. doi: 10.1007/s00467-007-0735-4. Epub 2008 Feb 20.

PMID:
18286309
9.

Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function.

Kim I, Fu Y, Hui K, Moeckel G, Mai W, Li C, Liang D, Zhao P, Ma J, Chen XZ, George AL Jr, Coffey RJ, Feng ZP, Wu G.

J Am Soc Nephrol. 2008 Mar;19(3):455-68. doi: 10.1681/ASN.2007070770. Epub 2008 Jan 30.

10.

Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion.

Faguer S, Bouissou F, Dumazer P, Guitard J, Bellanné-Chantelot C, Chauveau D.

Am J Kidney Dis. 2007 Dec;50(6):1023-7.

PMID:
18037103
11.

Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.

Yu S, Hackmann K, Gao J, He X, Piontek K, García-González MA, Menezes LF, Xu H, Germino GG, Zuo J, Qian F.

Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18688-93. Epub 2007 Nov 14. Erratum in: Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1386. Gao, Jianggang [corrected to Gao, Jiangang]; Garcia Gonzalez, Miguel A [corrected to García-González].

12.

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1.

Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG.

Nat Med. 2007 Dec;13(12):1490-5. Epub 2007 Oct 28.

13.

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
14.

Early manifestations of polycystic kidney disease.

Bergmann C, Zerres K.

Lancet. 2007 Jun 30;369(9580):2157. No abstract available.

PMID:
17604790
15.

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG.

Hum Mol Genet. 2007 Aug 15;16(16):1940-50. Epub 2007 Jun 16.

16.

Autosomal dominant polycystic kidney disease.

Torres VE, Harris PC, Pirson Y.

Lancet. 2007 Apr 14;369(9569):1287-301. Review.

PMID:
17434405
17.

Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia.

Wang S, Zhang J, Nauli SM, Li X, Starremans PG, Luo Y, Roberts KA, Zhou J.

Mol Cell Biol. 2007 Apr;27(8):3241-52. Epub 2007 Feb 5.

18.

Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.

Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanné-Chantelot C.

J Am Soc Nephrol. 2007 Mar;18(3):923-33. Epub 2007 Jan 31.

19.

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschênes G, Bouissou F, Bensman A, Bellanné-Chantelot C.

J Am Soc Nephrol. 2006 Feb;17(2):497-503. Epub 2005 Dec 21.

20.

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J.

Diabetes. 2005 Nov;54(11):3126-32.

Items per page

Supplemental Content

Write to the Help Desk