Ciliopathies

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

Nauli, S. M., Alenghat, F. J., Luo, Y., Williams, E., Vassilev, P., Li, X., Elia, A. E. H., Lu, W., Brown, E. M., Quinn, S. J., et al. (2003) · Nature Genetics · doi:10.1038/ng1076 · Cited by 2,057 · see citing works

Autosomal dominant polycystic kidney disease

Torres, V. E., Harris, P. C., & Pirson, Y. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60601-1 · Cited by 1,550 · see citing works

Vertebrate Smoothened functions at the primary cilium

Corbit, K. C., Aanstad, P., Singla, V., Norman, A. R., Stainier, D. Y. R., & Reiter, J. F. (2005) · Nature · doi:10.1038/nature04117 · Cited by 1,481 · see citing works

Hedgehog signalling in the mouse requires intraflagellar transport proteins

Huangfu, D., Liu, A., Rakeman, A. S., Murcia, N. S., Niswander, L., & Anderson, K. V. (2003) · Nature · doi:10.1038/nature02061 · Cited by 1,425 · see citing works

Intraflagellar transport

Rosenbaum, J. L., & Witman, G. B. (2002) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm952 · Cited by 1,423 · see citing works

Proteomic characterization of the human centrosome by protein correlation profiling

Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., & Mann, M. (2003) · Nature · doi:10.1038/nature02166 · Cited by 1,319 · see citing works

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115610 · Cited by 1,144 · see citing works

A motility in the eukaryotic flagellum unrelated to flagellar beating.

Kozminski, K. G., Johnson, K. A., Forscher, P., & Rosenbaum, J. L. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.12.5519 · Cited by 1,007 · see citing works

The Polycystic Kidney Disease Proteins, Polycystin-1, Polycystin-2, Polaris, and Cystin, Are Co-Localized in Renal Cilia

Yoder, B. K., Hou, X., & Guay-Woodford, L. M. (2002) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000029587.47950.25 · Cited by 935 · see citing works

HEF1-Dependent Aurora A Activation Induces Disassembly of the Primary Cilium

Pugacheva, E. N., Jablonski, S. A., Hartman, T. R., Henske, E. P., & Golemis, E. A. (2007) · Cell · doi:10.1016/j.cell.2007.04.035 · Cited by 890 · see citing works

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Ward, C. J., Hogan, M. C., Rossetti, S., Walker, D. L., Sneddon, T. P., Wang, X., Kubly, V., Cunningham, J. M., Bacallao, R. L., Ishibashi, M., et al. (2002) · Nature Genetics · doi:10.1038/ng833 · Cited by 763 · see citing works

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Ansley, S. J., Badano, J. L., Blacque, O. E., Hill, J. E., Hoskins, B. E., Leitch, C. C., Kim, J. C., Ross, A. J., Eichers, E. R., Teslovich, T. M., et al. (2003) · Nature · doi:10.1038/nature02030 · Cited by 684 · see citing works

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

den Hollander, A. I., Koenekoop, R. K., Yzer, S., López, I., Arends, M. L., Voesenek, K., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/507318 · Cited by 669 · see citing works

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Otto, E. A., Schermer, B., Obara, T., O’Toole, J. F., Hiller, K. S., Mueller, A. M., Ruf, R. G., Hoefele, J., Beekmann, F., Landau, D., et al. (2003) · Nature Genetics · doi:10.1038/ng1217 · Cited by 646 · see citing works

Genetics and Pathogenesis of Polycystic Kidney Disease

Igarashi, P., & Somlo, S. (2002) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000028643.17901.42 · Cited by 594 · see citing works

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

Lin, F., Hiesberger, T., Cordes, K. R., Sinclair, A. M., Goldstein, L. S. B., Somlo, S., & Igarashi, P. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0836980100 · Cited by 588 · see citing works

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Sayer, J. A., Otto, E. A., O’Toole, J. F., Nürnberg, G., Kennedy, M. A., Becker, C., Hennies, H. C., Helou, J., Attanasio, M., Fausett, B. V., et al. (2006) · Nature Genetics · doi:10.1038/ng1786 · Cited by 571 · see citing works

A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans

Barr, M. M., & Sternberg, P. W. (1999) · Nature · doi:10.1038/43913 · Cited by 541 · see citing works

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease

Pazour, G. J., San Agustin, J. T., Follit, J. A., Rosenbaum, J. L., & Witman, G. B. (2002) · Current Biology · doi:10.1016/s0960-9822(02)00877-1 · Cited by 531 · see citing works

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

Onuchic², L. F., Furu, L., Nagasawa, Y., Hou, X., Eggermann, T., Ren, Z., Bergmann, C., Senderek, J., Esquivel, E. L., Zeltner, R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/340448 · Cited by 505 · see citing works

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., et al. (2007) · Nature Genetics · doi:10.1038/ng2039 · Cited by 495 · see citing works

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

Pazour, G. J., Baker, S. A., Deane, J. A., Cole, D. G., Dickert, B. L., Rosenbaum, J. L., Witman, G. B., & Besharse, J. C. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200107108 · Cited by 478 · see citing works

PKD1 Induces p21waf1 and Regulation of the Cell Cycle via Direct Activation of the JAK-STAT Signaling Pathway in a Process Requiring PKD2

Bhunia, A. K., Piontek, K., Boletta, A., Liu, L., Qian, F., Xu, P.-N., Germino, F. J., & Germino, G. G. (2002) · Cell · doi:10.1016/s0092-8674(02)00716-x · Cited by 454 · see citing works

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

Park, T. J., Mitchell, B. J., Abitua, P. B., Kintner, C. R., & Wallingford, J. B. (2008) · Nature Genetics · doi:10.1038/ng.104 · Cited by 448 · see citing works

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

Piontek, K., Menezes, L. F., García-González, M. Á., Huso, D. L., & Germino, G. G. (2007) · Nature Medicine · doi:10.1038/nm1675 · Cited by 424 · see citing works

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., et al. (2004) · Nature Genetics · doi:10.1038/ng1419 · Cited by 408 · see citing works

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Dı́az-Font, A., Rix, S., Alfadhel, M., Lewis, R. A., Eyaid, W., Banin, E., et al. (2008) · Nature Genetics · doi:10.1038/ng.97 · Cited by 406 · see citing works

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al‐Gazali, L., et al. (2006) · Nature Genetics · doi:10.1038/ng1805 · Cited by 403 · see citing works

Nephronophthisis-Associated Ciliopathies

Hildebrandt, F., & Zhou, W. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006121344 · Cited by 401 · see citing works

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

Gerdes, J. M., Liu, Y., Zaghloul, N. A., Leitch, C. C., Lawson, S. S., Kato, M., Beachy, P. A., Beales, P. L., DeMartino, G. N., Fisher, S., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.12 · Cited by 399 · see citing works

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O’Toole, J. F., Helou, J., Attanasio, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1520 · Cited by 399 · see citing works

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al‐Gazali, L., Sztriha, L., Bayoumi, R., Zaki, M. S., Aleem, A. K. A., Rosti, R. Ö., et al. (2009) · Nature Genetics · doi:10.1038/ng.423 · Cited by 397 · see citing works

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S., Bertrand, J. Y., Audollent, S., Attié‐Bitach, T., Holden, K. R., Dobyns, W. B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.023 · Cited by 391 · see citing works

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Chang, B., Khanna, H., Hawes, N. L., Jimeno, D., He, S., Lillo, C., Parapuram, S. K., Cheng, H., Scott, A., Hurd, R. E., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl107 · Cited by 379 · see citing works

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

Olbrich, H., Fliegauf, M., Hoefele, J., et al. (2003) · Nature Genetics · doi:10.1038/ng1216 · Cited by 372 · see citing works

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

Hildebrandt, F., Otto, E. A., Rensing, C., Nothwang, H. G., Vollmer, M., Adolphs, J., Hanusch, H., & Brandis, M. (1997) · Nature Genetics · doi:10.1038/ng1097-149 · Cited by 352 · see citing works

The roles of cilia in developmental disorders and disease

Bisgrove, B. W., & Yost, H. J. (2006) · Development · doi:10.1242/dev.02595 · Cited by 348 · see citing works

Ciliary proteins link basal body polarization to planar cell polarity regulation

Jones, C., Roper, V. C., Foucher, I., Qian, D., Banizs, B., Petit, C., Yoder, B. K., & Chen, P. (2007) · Nature Genetics · doi:10.1038/ng.2007.54 · Cited by 337 · see citing works

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, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.02.017 · Cited by 324 · see citing works

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia

Patel, V., Li, L., Cobo-Stark, P., Shao, X., Somlo, S., Lin, F., & Igarashi, P. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn045 · Cited by 323 · see citing works

The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway

Barr, M. M., DeModena, J. A., Braun, D., Nguyen, C. Q., Hall, D. H., & Sternberg, P. W. (2001) · Current Biology · doi:10.1016/s0960-9822(01)00423-7 · Cited by 317 · see citing works

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

Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Märker, T., Voesenek, K., Kartono, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2069 · Cited by 317 · see citing works

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

Hildebrandt, F., & Otto, E. A. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1727 · Cited by 306 · see citing works

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Dixon‐Salazar, T., Silhavy, J. L., Marsh, S., Louie, C. M., Scott, L. C., Gururaj, A., Al‐Gazali, L., Al-Tawari, A. A., Kayserili, H., Sztriha, L., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425985 · Cited by 293 · see citing works

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Valente, E. M., Logan, C. V., Mougou-Zerelli, S., Lee, J. H., Silhavy, J. L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., et al. (2010) · Nature Genetics · doi:10.1038/ng.594 · Cited by 287 · see citing works

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Baala, L., Audollent, S., Martinovic, J., Ozilou, C., Babron, M., Sivanandamoorthy, S., Saunier, S., Salomon, R., Gonzalès, M., Rattenberry, E., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519494 · Cited by 283 · see citing works

Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine

Bukanov, N. O., Smith, L. A., Klinger, K. W., Ledbetter, S. R., & Ibraghimov‐Beskrovnaya, O. (2006) · Nature · doi:10.1038/nature05348 · Cited by 276 · see citing works

Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Adeva, M., El‐Youssef, M., Rossetti, S., et al. (2006) · Medicine · doi:10.1097/01.md.0000200165.90373.9a · Cited by 273 · see citing works

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

Kyttälä, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola–Sakki, P., Peltonen, L., & Kestilä, M. (2006) · Nature Genetics · doi:10.1038/ng1714 · Cited by 258 · see citing works

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Parisi, M. A., Bennett, C. L., Eckert, M. L., Dobyns, W. B., Gleeson, J. G., Shaw, D., McDonald, R., Eddy, A. A., Chance, P. F., & Glass, I. A. (2004) · The American Journal of Human Genetics · doi:10.1086/421846 · Cited by 255 · see citing works

A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish

Liu, S., Lu, W., Obara, T., Kuida, S., Lehoczky, J., Dewar, K., Drummond, I. A. S., & Beier, D. R. (2002) · Development · doi:10.1242/dev.00173 · Cited by 249 · see citing works

Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes

Gleeson, J. G., Keeler, L. C., Parisi, M. A., Marsh, S., Chance, P. F., Glass, I. A., Graham, J. M., Maria, B. L., Barkovich, A. J., & Dobyns, W. B. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20437 · Cited by 246 · see citing works

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

Attanasio, M., Uhlenhaut, N. H., Sousa, V. H., O’Toole, J. F., Otto, E. A., Anlag, K., Klugmann, C., Treier, A.-C., Helou, J., Sayer, J. A., et al. (2007) · Nature Genetics · doi:10.1038/ng2072 · Cited by 240 · see citing works

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Baala, L., Romano, S., Khaddour, R., Saunier, S., Smith, U. M., Audollent, S., Ozilou, C., Faivre, L. O., Laurent, N., Foliguet, B., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/510499 · Cited by 238 · see citing works

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Mollet, G., Salomon, R., Gribouval, O., Silbermann, F., Bacq, D., Landthaler, G., Milford, D. V., Nayır, A., Rizzoni, G., Antignac, C., et al. (2002) · Nature Genetics · doi:10.1038/ng996 · Cited by 220 · see citing works

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

Otto, E. A., Trapp, M. L., Schultheiß, U. T., Helou, J., Quarmby, L. M., & Hildebrandt, F. (2008) · Journal of the American Society of Nephrology · doi:10.1681/asn.2007040490 · Cited by 214 · see citing works

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Otto, E. A., Hoefele, J., Ruf, R. G., Mueller, A. M., Hiller, K. S., Wolf, M. T. F., Schuermann, M. J., Becker, A., Birkenhäger, R., Sudbrak, R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/344395 · Cited by 208 · see citing works

Patching the gaps in Hedgehog signalling

Rohatgi, R., & Scott, M. P. (2007) · Nature Cell Biology · doi:10.1038/ncb435 · Cited by 193 · see citing works

From cilia to cyst

Watnick, T. J., & Germino, G. G. (2003) · Nature Genetics · doi:10.1038/ng0803-355 · Cited by 168 · see citing works

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

Mollet, G., Silbermann, F., Delous, M., Salomon, R., Antignac, C., & Saunier, S. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi061 · Cited by 165 · see citing works

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. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.004 · Cited by 145 · see citing works

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

Saunier, S. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.13.2317 · Cited by 145 · see citing works

Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function

Kim, I., Fu, Y., Hui, K., Moeckel, G. W., Mai, W., Li, C., Liang, D., Zhao, P., Ma, J., Chen, X., et al. (2008) · Journal of the American Society of Nephrology · doi:10.1681/asn.2007070770 · Cited by 144 · see citing works

Nephrocystin Specifically Localizes to the Transition Zone of Renal and Respiratory Cilia and Photoreceptor Connecting Cilia

Fliegauf, M., Horvath, J. E., von Schnakenburg, C., Olbrich, H., Müller, D. N., Thumfart, J., Schermer, B., Pazour, G. J., Neumann, H. P. H., Zentgraf, H., et al. (2006) · Journal of the American Society of Nephrology · doi:10.1681/asn.2005121351 · Cited by 139 · see citing works

Loss of Oriented Cell Division Does not Initiate Cyst Formation

Nishio, S., Tian, X., Gallagher, A., Yu, Z., Patel, V., Igarashi, P., & Somlo, S. (2009) · Journal of the American Society of Nephrology · doi:10.1681/asn.2009060603 · Cited by 137 · see citing works

The von Hippel-Lindau gene, kidney cancer, and oxygen sensing.

Kaelin, W. G. (2003) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000092803.69761.41 · Cited by 135 · see citing works

Hypomorphic mutations in meckelin ( MKS3/TMEM67 ) cause nephronophthisis with liver fibrosis (NPHP11)

Otto, E. A., Tory, K., Attanasio, M., Zhou, W., Chaki, M., Paruchuri, Y., Wise, E. L., Wolf, M. T. F., Utsch, B., Becker, C., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.066613 · Cited by 132 · see citing works

Nek8 Regulates the Expression and Localization of Polycystin-1 and Polycystin-2

Sohara, E., Luo, Y., Zhang, J., Manning, D. K., Beier, D. R., & Zhou, J. (2008) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006090985 · Cited by 128 · see citing works

Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya

Oishi, I., Kawakami, Y., Raya, Á., Callol-Massot, C., & Belmonte, J. C. I. (2006) · Nature Genetics · doi:10.1038/ng1892 · Cited by 126 · see citing works

Nephrocystin interacts with Pyk2, p130 Cas , and tensin and triggers phosphorylation of Pyk2

Benzing, T. R., Gerke, P., Höpker, K., Hildebrandt, F., Kim, E., & Walz, G. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.171269898 · Cited by 122 · see citing works

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

Helou, J., Otto, E. A., Attanasio, M., Allen, S. J., Parisi, M. A., Glass, I. A., Utsch, B., Hashmi, S., Fazzi, E. M., Omran, H., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.052027 · Cited by 109 · see citing works

Distinguishing the four genetic causes of jouberts syndrome–related disorders

Valente, E. M., Marsh, S., Castori, M., Dixon‐Salazar, T., Bertini, E., Al‐Gazali, L., Messer, J., Barbot, C., Woods, C. G., Boltshauser, E., et al. (2005) · Annals of Neurology · doi:10.1002/ana.20422 · Cited by 108 · see citing works

The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure

Jauregui, A. R., Nguyen, K. C. Q., Hall, D. H., & Barr, M. M. (2008) · The Journal of Cell Biology · doi:10.1083/jcb.200707090 · Cited by 106 · see citing works

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

Wolf, M. T. F., Saunier, S., O’Toole, J. F., Wanner, N., Groshong, T. P., Attanasio, M., Salomon, R., Stallmach, T., Sayer, J. A., Waldherr, R., et al. (2007) · Kidney International · doi:10.1038/sj.ki.5002630 · Cited by 102 · see citing works

Spectrum ofMKS1andMKS3mutations in Meckel syndrome: a genotype-phenotype correlation

Khaddour, R., Smith, U. M., Baala, L., et al. (2007) · Human Mutation · doi:10.1002/humu.9489 · Cited by 101 · see citing works

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, Z. K., Naeem, F., Paterson, A. D., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.021 · Cited by 99 · see citing works

Nephrocystin-conserved Domains Involved in Targeting to Epithelial Cell-Cell Junctions, Interaction with Filamins, and Establishing Cell Polarity

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

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