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1
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77049339267
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Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney)
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Fanconi G, Hanhart E, von AA, et al. Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney). Helv Paediatr Acta 1951; 6:1-49.
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Helv Paediatr Acta
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Fanconi, G.1
Hanhart, E.2
Von, A.A.3
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3
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0030868540
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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
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DOI 10.1038/ng1097-149
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Hildebrandt F, Otto E, Rensing C, et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 1997; 17:149-153. (Pubitemid 27425946)
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Nature Genetics
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Hildebrandt, F.1
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Vollmer, M.5
Adolphs, J.6
Hanusch, H.7
Brandis, M.8
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4
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9844224478
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A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis
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Saunier S, Calado J, Heilig R, et al. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Human Molecular Genet 1997; 6:2317-2323. (Pubitemid 27501085)
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Human Molecular Genetics
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Saunier, S.1
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Benessy, F.5
Morin, G.6
Konrad, M.7
Broyer, M.8
Gubler, M.-C.9
Weissenbach, J.10
Antignac, C.11
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5
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0041592700
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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
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DOI 10.1038/ng1217
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Otto EA, Schermer B, Obara T, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 2003; 34:413-420. (Pubitemid 36935334)
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Nature Genetics
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Otto, E.A.1
Schermer, B.2
Obara, T.3
O'Toole, J.F.4
Hiller, K.S.5
Mueller, A.M.6
Ruf, R.G.7
Hoefele, J.8
Beekmann, F.9
Landau, D.10
Foreman, J.W.11
Goodship, J.A.12
Strachan, T.13
Kispert, A.14
Wolf, M.T.15
Gagnadoux, M.F.16
Nivet, H.17
Antignac, C.18
Walz, G.19
Drummond, I.A.20
Benzing, T.21
Hildebrandt, F.22
more..
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6
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0042093746
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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
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DOI 10.1038/ng1216
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Olbrich H, Fliegauf M, Hoefele J, et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 2003; 34:455-459. (Pubitemid 36935341)
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(2003)
Nature Genetics
, vol.34
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Olbrich, H.1
Fliegauf, M.2
Hoefele, J.3
Kispert, A.4
Otto, E.5
Volz, A.6
Wolf, M.T.7
Sasmaz, G.8
Trauer, U.9
Reinhardt, R.10
Sudbrak, R.11
Antignac, C.12
Gretz, N.13
Walz, G.14
Schermer, B.15
Benzing, T.16
Hildebrandt, F.17
Omran, H.18
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7
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18644368159
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The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
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Mollet G, Salomon R, Gribouval O, et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet 2002; 32:300-305.
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(2002)
Nat Genet
, vol.32
, pp. 300-305
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Mollet, G.1
Salomon, R.2
Gribouval, O.3
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8
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0036842902
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A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
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DOI 10.1086/344395
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Otto E, Hoefele J, Ruf R, et al. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Human Genet 2002; 71:1161-1167. (Pubitemid 35305233)
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(2002)
American Journal of Human Genetics
, vol.71
, Issue.5
, pp. 1161-1167
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Otto, E.1
Hoefele, J.2
Ruf, R.3
Mueller, A.M.4
Hiller, K.S.5
Wolf, M.T.F.6
Schuermann, M.J.7
Becker, A.8
Birkenhager, R.9
Sudbrak, R.10
Hennies, H.C.11
Nurnberg, P.12
Hildebrandt, F.13
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9
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20144375842
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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
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DOI 10.1038/ng1520
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Otto EA, Loeys B, Khanna H, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 2005; 37:282-288. (Pubitemid 41716255)
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(2005)
Nature Genetics
, vol.37
, Issue.3
, pp. 282-288
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Otto, E.A.1
Loeys, B.2
Khanna, H.3
Hellemans, J.4
Sudbrak, R.5
Fan, S.6
Muerb, U.7
O'Toole, J.F.8
Helou, J.9
Attanasio, M.10
Utsch, B.11
Sayer, J.A.12
Lillo, C.13
Jimeno, D.14
Coucke, P.15
De Paepe, A.16
Reinhardt, R.17
Klages, S.18
Tsuda, M.19
Kawakami, I.20
Kusakabe, T.21
Omran, H.22
Imm, A.23
Tippens, M.24
Raymond, P.A.25
Hill, J.26
Beales, P.27
He, S.28
Kispert, A.29
Margolis, B.30
Williams, D.S.31
Swaroop, A.32
Hildebrandt, F.33
more..
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10
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33745230448
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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
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DOI 10.1038/ng1786, PII N1786
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Sayer JA, Otto EA, O'Toole JF, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006; 38:674-681. (Pubitemid 43927310)
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(2006)
Nature Genetics
, vol.38
, Issue.6
, pp. 674-681
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Sayer, J.A.1
Otto, E.A.2
O'Toole, J.F.3
Nurnberg, G.4
Kennedy, M.A.5
Becker, C.6
Hennies, H.C.7
Helou, J.8
Attanasio, M.9
Fausett, B.V.10
Utsch, B.11
Khanna, H.12
Liu, Y.13
Drummond, I.14
Kawakami, I.15
Kusakabe, T.16
Tsuda, M.17
Ma, L.18
Lee, H.19
Larson, R.G.20
Allen, S.J.21
Wilkinson, C.J.22
Nigg, E.A.23
Shou, C.24
Lillo, C.25
Williams, D.S.26
Hoppe, B.27
Kemper, M.J.28
Neuhaus, T.29
Parisi, M.A.30
Glass, I.A.31
Petry, M.32
Kispert, A.33
Gloy, J.34
Ganner, A.35
Walz, G.36
Zhu, X.37
Goldman, D.38
Nurnberg, P.39
Swaroop, A.40
Leroux, M.R.41
Hildebrandt, F.42
more..
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11
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34547547119
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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
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DOI 10.1038/ng2072, PII NG2072
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Attanasio M, Uhlenhaut NH, Sousa VH, et al. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet 2007; 39:1018-1024. (Pubitemid 47185176)
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(2007)
Nature Genetics
, vol.39
, Issue.8
, pp. 1018-1024
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Attanasio, M.1
Uhlenhaut, N.H.2
Sousa, V.H.3
O'Toole, J.F.4
Otto, E.5
Anlag, K.6
Klugmann, C.7
Treier, A.-C.8
Helou, J.9
Sayer, J.A.10
Seelow, D.11
Nurnberg, G.12
Becker, C.13
Chudley, A.E.14
Nurnberg, P.15
Hildebrandt, F.16
Treier, M.17
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12
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36649006407
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Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis
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DOI 10.1038/sj.ki.5002630, PII 5002630
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Wolf MT, Saunier S, O'Toole JF, et al. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int 2007; 72:1520-1526. (Pubitemid 350197958)
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(2007)
Kidney International
, vol.72
, Issue.12
, pp. 1520-1526
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Wolf, M.T.F.1
Saunier, S.2
O'Toole, J.F.3
Wanner, N.4
Groshong, T.5
Attanasio, M.6
Salomon, R.7
Stallmach, T.8
Sayer, J.A.9
Waldherr, R.10
Griebel, M.11
Oh, J.12
Neuhaus, T.J.13
Josefiak, U.14
Antignac, C.15
Otto, E.A.16
Hildebrandt, F.17
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13
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40449102218
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NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis
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DOI 10.1681/ASN.2007040490
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Otto EA, Trapp ML, Schultheiss UT, et al. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. JASN 2008; 19:587-592. (Pubitemid 351355402)
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(2008)
Journal of the American Society of Nephrology
, vol.19
, Issue.3
, pp. 587-592
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Otto, E.A.1
Trapp, M.L.2
Schultheiss, U.T.3
Helou, J.4
Quarmby, L.M.5
Hildebrandt, F.6
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14
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77957557692
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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
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Otto EA, Hurd TW, Airik R, et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010; 42:840-850.
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(2010)
Nat Genet
, vol.42
, pp. 840-850
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Otto, E.A.1
Hurd, T.W.2
Airik, R.3
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15
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70349659803
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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
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Otto EA, Tory K, Attanasio M, et al. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet 2009; 46:663-670.
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(2009)
J Med Genet
, vol.46
, pp. 663-670
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Otto, E.A.1
Tory, K.2
Attanasio, M.3
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16
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77949865316
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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
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O'Toole JF, Liu Y, Davis EE, et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest 2010; 120:791-802.
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(2010)
J Clin Invest
, vol.120
, pp. 791-802
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O'Toole, J.F.1
Liu, Y.2
Davis, E.E.3
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17
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0042763544
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Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
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DOI 10.1086/378206
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Keeler LC, Marsh SE, Leeflang EP, et al. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet 2003; 73:656-662. (Pubitemid 37076279)
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(2003)
American Journal of Human Genetics
, vol.73
, Issue.3
, pp. 656-662
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Keeler, L.C.1
Marsh, S.E.2
Leeflang, E.P.3
Woods, C.G.4
Sztriha, L.5
Al-Gazali, L.6
Gururaj, A.7
Gleeson, J.G.8
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18
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0042262413
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Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
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DOI 10.1086/378241
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Valente EM, Salpietro DC, Brancati F, et al. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 2003; 73:663-670. (Pubitemid 37076280)
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(2003)
American Journal of Human Genetics
, vol.73
, Issue.3
, pp. 663-670
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Valente, E.M.1
Salpietro, D.C.2
Brancati, F.3
Bertini, E.4
Galluccio, T.5
Tortorella, G.6
Briuglia, S.7
Dallapiccola, B.8
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19
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29944439508
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Identification of the first AHI1 gene mutations in nephronophthisis- associated Joubert syndrome
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DOI 10.1007/s00467-005-2054-y
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Utsch B, Sayer JA, Attanasio M, et al. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol 2006; 21:32-35. (Pubitemid 43040191)
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(2006)
Pediatric Nephrology
, vol.21
, Issue.1
, pp. 32-35
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Utsch, B.1
Sayer, J.A.2
Attanasio, M.3
Pereira, R.R.4
Eccles, M.5
Hennies, H.-C.6
Otto, E.A.7
Hildebrandt, F.8
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20
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55249102622
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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
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Gorden NT, Arts HH, Parisi MA, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Human Genet 2008; 83:559-571.
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(2008)
Am J Human Genet
, vol.83
, pp. 559-571
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Gorden, N.T.1
Arts, H.H.2
Parisi, M.A.3
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21
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79952192021
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
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This study is one out of two recent studies that described mutations in genes encoding for an IFT protein causing NPH (23)
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Davis EE, Zhang Q, Liu Q, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011; 43:189-196. This study is one out of two recent studies that described mutations in genes encoding for an IFT protein causing NPH (23).
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(2011)
Nat Genet
, vol.43
, pp. 189-196
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Davis, E.E.1
Zhang, Q.2
Liu, Q.3
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22
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79955808192
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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
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Using affinity purification, mass spectrometry, computational analyses and functional assays this outstanding study identifies and characterizes the NPH protein interactome
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Sang L, Miller JJ, Corbit KC, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011; 145:513-528. Using affinity purification, mass spectrometry, computational analyses and functional assays this outstanding study identifies and characterizes the NPH protein interactome.
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(2011)
Cell
, vol.145
, pp. 513-528
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Sang, L.1
Miller, J.J.2
Corbit, K.C.3
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23
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80955166295
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Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19
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This study is one out of two recent studies that described mutations in genes encoding for an IFT protein causing NPH (21)
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Bredrup C, Saunier S, OudMM, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 2011; 89:634-643. This study is one out of two recent studies that described mutations in genes encoding for an IFT protein causing NPH (21).
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(2011)
Am J Hum Genet
, vol.89
, pp. 634-643
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Bredrup, C.1
Saunier, S.2
Oud, M.M.3
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29
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79958745491
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Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros
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This study demonstrates the regulation of Wnt signaling by NPHP4 in zebrafish
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Burckle C, Gaude HM, Vesque C, et al. Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros. Hum Mol Genet 2011; 20:2611-2627. This study demonstrates the regulation of Wnt signaling by NPHP4 in zebrafish.
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(2011)
Hum Mol Genet
, vol.20
, pp. 2611-2627
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Burckle, C.1
Gaude, H.M.2
Vesque, C.3
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30
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77949671506
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Lights on for aminopeptidases in cystic kidney disease
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Bottinger EP. Lights on for aminopeptidases in cystic kidney disease. J Clin Invest 2010; 120:660-663.
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(2010)
J Clin Invest
, vol.120
, pp. 660-663
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Bottinger, E.P.1
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31
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79960045664
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Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos
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Zhao C, Malicki J. Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos. EMBO J 2011; 30:2532-2544.
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(2011)
EMBO J
, vol.30
, pp. 2532-2544
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Zhao, C.1
Malicki, J.2
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32
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77956388187
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CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
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This is an outstanding study on the function of CEP290 highlighting the importance of the transition zone in ciliary biology
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Craige B, Tsao CC, Diener DR, et al. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J Cell Biol 2010; 190:927-940. This is an outstanding study on the function of CEP290 highlighting the importance of the transition zone in ciliary biology.
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(2010)
J Cell Biol
, vol.190
, pp. 927-940
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Craige, B.1
Tsao, C.C.2
Diener, D.R.3
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33
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0041308085
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Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Beidl patients with two mutations at a second BBS locus
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DOI 10.1093/hmg/ddg188
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Badano JL, Kim JC, Hoskins BE, et al. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 2003; 12:1651-1659. (Pubitemid 36896658)
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(2003)
Human Molecular Genetics
, vol.12
, Issue.14
, pp. 1651-1659
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Bandano, J.L.1
Kim, J.C.2
Hoskins, B.E.3
Lewis, R.A.4
Ansley, S.J.5
Cutler, D.J.6
Castellan, C.7
Beales, P.L.8
Leroux, M.R.9
Katsanis, N.10
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34
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34250012834
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A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
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DOI 10.1016/j.cell.2007.03.053, PII S009286740700534X
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Nachury MV, Loktev AV, Zhang Q, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 2007; 129:1201-1213. (Pubitemid 46891037)
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(2007)
Cell
, vol.129
, Issue.6
, pp. 1201-1213
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Nachury, M.V.1
Loktev, A.V.2
Zhang, Q.3
Westlake, C.J.4
Peranen, J.5
Merdes, A.6
Slusarski, D.C.7
Scheller, R.H.8
Bazan, J.F.9
Sheffield, V.C.10
Jackson, P.K.11
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35
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79960900387
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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
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This brilliant study identifies mutations in TCTN1 to cause JBTS and describes the functions of transition zone proteins as regulators of ciliary assembly and trafficking
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Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet 2011; 43:776-784. This brilliant study identifies mutations in TCTN1 to cause JBTS and describes the functions of transition zone proteins as regulators of ciliary assembly and trafficking.
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(2011)
Nat Genet
, vol.43
, pp. 776-784
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Garcia-Gonzalo, F.R.1
Corbit, K.C.2
Sirerol-Piquer, M.S.3
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36
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79955513961
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MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
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Williams CL, Li C, Kida K, et al. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol 2011; 192:1023-1041.
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(2011)
J Cell Biol
, vol.192
, pp. 1023-1041
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Williams, C.L.1
Li, C.2
Kida, K.3
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37
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79954616437
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Nephrocystin-4 regulates Pyk2- Induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia
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Liebau MC, Hopker K, Muller RU, et al. Nephrocystin-4 regulates Pyk2- induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia. J Biol Chem 2011; 286:14237-14245.
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(2011)
J Biol Chem
, vol.286
, pp. 14237-14245
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Liebau, M.C.1
Hopker, K.2
Muller, R.U.3
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38
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77956375302
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NPHP proteins: Gatekeepers of the ciliary compartment
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Omran H. NPHP proteins: gatekeepers of the ciliary compartment. J Cell Biol 2010; 190:715-717.
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(2010)
J Cell Biol
, vol.190
, pp. 715-717
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Omran, H.1
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39
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80051501226
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Disruption of a ciliary B9 protein complex causes Meckel syndrome
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Dowdle WE, Robinson JF, Kneist A, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet 2011; 89:94-110.
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(2011)
Am J Hum Genet
, vol.89
, pp. 94-110
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Dowdle, W.E.1
Robinson, J.F.2
Kneist, A.3
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40
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70449353527
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A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling
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Weatherbee SD, Niswander LA, Anderson KV. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet 2009; 18:4565-4575.
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(2009)
Hum Mol Genet
, vol.18
, pp. 4565-4575
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