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Items: 1 to 20 of 137

1.

Identification of genes involved in the ciliary trafficking of C. elegans PKD-2.

Bae YK, Lyman-Gingerich J, Barr MM, Knobel KM.

Dev Dyn. 2008 Aug;237(8):2021-9. doi: 10.1002/dvdy.21531.

2.

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.

3.

The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure.

Jauregui AR, Nguyen KC, Hall DH, Barr MM.

J Cell Biol. 2008 Mar 10;180(5):973-88. doi: 10.1083/jcb.200707090. Epub 2008 Mar 3.

4.

Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.

Sohara E, Luo Y, Zhang J, Manning DK, Beier DR, Zhou J.

J Am Soc Nephrol. 2008 Mar;19(3):469-76. doi: 10.1681/ASN.2006090985. Epub 2008 Jan 30.

5.

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. Epub 2008 Jan 16.

6.

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F.

Hum Mutat. 2008 Mar;29(3):418-26.

7.

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ.

Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. Epub 2007 Oct 6.

PMID:
18054307
8.

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F.

Kidney Int. 2007 Dec;72(12):1520-6. Epub 2007 Oct 24.

9.

Evidence of oligogenic inheritance in nephronophthisis.

Hoefele J, Wolf MT, O'Toole JF, Otto EA, Schultheiss U, Dêschenes G, Attanasio M, Utsch B, Antignac C, Hildebrandt F.

J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.

10.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C.

Hum Mutat. 2008 Jan;29(1):45-52.

PMID:
17705300
11.

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. Epub 2007 Jul 8.

PMID:
17618285
12.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F.

J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.

13.

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T.

Am J Hum Genet. 2007 Jul;81(1):170-9. Epub 2007 Jun 4.

14.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group., Valente EM, Gleeson JG.

Am J Hum Genet. 2007 Jul;81(1):104-13. Epub 2007 May 18.

15.

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
16.

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R.

Nat Genet. 2007 Jul;39(7):882-8. Epub 2007 Jun 10.

PMID:
17558407
17.

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ.

Nat Genet. 2007 Jun;39(6):727-9. Epub 2007 Apr 29.

PMID:
17468754
18.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie)..

Hum Mutat. 2007 May;28(5):523-4.

PMID:
17397051
19.

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC.

Hum Genet. 2007 Jun;121(5):591-9. Epub 2007 Mar 22.

PMID:
17377820
20.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T.

Am J Hum Genet. 2007 Jan;80(1):186-94. Epub 2006 Nov 15.

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