-
1
-
-
34347356500
-
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
-
Arts, H.H., D. Doherty, S.E.C. van Beersum, M.A. Parisi, S.J.F. Letteboer, N.T. Gorden, T.A. Peters, T. Märker, K. Voesenek, A. Kartono, et al. 2007. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat. Genet. 39:882-888. http://dx.doi.org/10.1038/ng2069
-
(2007)
Nat. Genet.
, vol.39
, pp. 882-888
-
-
Arts, H.H.1
Doherty, D.2
van Beersum, S.E.C.3
Parisi, M.A.4
Letteboer, S.J.F.5
Gorden, N.T.6
Peters, T.A.7
Märker, T.8
Voesenek, K.9
Kartono, A.10
-
2
-
-
33846076617
-
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
-
Baala, L., S. Romano, R. Khaddour, S. Saunier, U.M. Smith, S. Audollent, C. Ozilou, L. Faivre, N. Laurent, B. Foliguet, et al. 2007. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am. J. Hum. Genet. 80:186-194. http://dx.doi.org/10.1086/510499
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 186-194
-
-
Baala, L.1
Romano, S.2
Khaddour, R.3
Saunier, S.4
Smith, U.M.5
Audollent, S.6
Ozilou, C.7
Faivre, L.8
Laurent, N.9
Foliguet, B.10
-
3
-
-
0022576958
-
The orofaciodigital (OFD) syndromes
-
Baraitser, M. 1986. The orofaciodigital (OFD) syndromes. J. Med. Genet. 23:116-119. http://dx.doi.org/10.1136/jmg.23.2.116
-
(1986)
J. Med. Genet.
, vol.23
, pp. 116-119
-
-
Baraitser, M.1
-
4
-
-
0035859888
-
Nephrocystin interacts with Pyk2, p130Cas, and tensin and triggers phosphorylation of Pyk2
-
Benzing, T., P. Gerke, K. Höpker, F. Hildebrandt, E. Kim, and G. Walz. 2001. Nephrocystin interacts with Pyk2, p130Cas, and tensin and triggers phosphorylation of Pyk2. Proc. Natl. Acad. Sci. USA. 98:9784-9789. http://dx.doi.org/10.1073/pnas.171269898
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 9784-9789
-
-
Benzing, T.1
Gerke, P.2
Höpker, K.3
Hildebrandt, F.4
Kim, E.5
Walz, G.6
-
5
-
-
66149129623
-
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins
-
Bialas, N.J., P.N. Inglis, C. Li, J.F. Robinson, J.D.K. Parker, M.P. Healey, E.E. Davis, C.D. Inglis, T. Toivonen, D.C. Cottell, et al. 2009. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. J. Cell Sci. 122:611-624. http://dx.doi.org/10.1242/jcs.028621
-
(2009)
J. Cell Sci.
, vol.122
, pp. 611-624
-
-
Bialas, N.J.1
Inglis, P.N.2
Li, C.3
Robinson, J.F.4
Parker, J.D.K.5
Healey, M.P.6
Davis, E.E.7
Inglis, C.D.8
Toivonen, T.9
Cottell, D.C.10
-
6
-
-
77949716057
-
Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans
-
Cevik, S., Y. Hori, O.I. Kaplan, K. Kida, T. Toivenon, C. Foley-Fisher, D. Cottell, T. Katada, K. Kontani, and O.E. Blacque. 2010. Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. J. Cell Biol. 188:953-969. http://dx.doi.org/10.1083/jcb.200908133
-
(2010)
J. Cell Biol.
, vol.188
, pp. 953-969
-
-
Cevik, S.1
Hori, Y.2
Kaplan, O.I.3
Kida, K.4
Toivenon, T.5
Foley-Fisher, C.6
Cottell, D.7
Katada, T.8
Kontani, K.9
Blacque, O.E.10
-
7
-
-
26944490411
-
A combined approach for the localization and tandem affinity purification of protein complexes from metazoans
-
Cheeseman, I.M., and A. Desai. 2005. A combined approach for the localization and tandem affinity purification of protein complexes from metazoans. Sci. STKE. 2005:pl1.
-
(2005)
Sci. STKE
, vol.2005
-
-
Cheeseman, I.M.1
Desai, A.2
-
8
-
-
84355161803
-
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain
-
Chih, B., P. Liu, Y. Chinn, C. Chalouni, L.G. Komuves, P.E. Hass, W. Sandoval, and A.S. Peterson. 2012. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat. Cell Biol. 14:61-72. http://dx.doi.org/10.1038/ncb2410
-
(2012)
Nat. Cell Biol.
, vol.14
, pp. 61-72
-
-
Chih, B.1
Liu, P.2
Chinn, Y.3
Chalouni, C.4
Komuves, L.G.5
Hass, P.E.6
Sandoval, W.7
Peterson, A.S.8
-
9
-
-
26644460824
-
Vertebrate Smoothened functions at the primary cilium
-
Corbit, K.C., P. Aanstad, V. Singla, A.R. Norman, D.Y.R. Stainier, and J.F. Reiter. 2005. Vertebrate Smoothened functions at the primary cilium. Nature. 437:1018-1021. http://dx.doi.org/10.1038/nature04117
-
(2005)
Nature
, vol.437
, pp. 1018-1021
-
-
Corbit, K.C.1
Aanstad, P.2
Singla, V.3
Norman, A.R.4
Stainier, D.Y.R.5
Reiter, J.F.6
-
10
-
-
77956388187
-
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
-
Craige, B., C.C. Tsao, D.R. Diener, Y. Hou, K.F. Lechtreck, J.L. Rosenbaum, and G.B. Witman. 2010. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J. Cell Biol. 190:927-940. http://dx.doi.org/10.1083/jcb.201006105
-
(2010)
J. Cell Biol.
, vol.190
, pp. 927-940
-
-
Craige, B.1
Tsao, C.C.2
Diener, D.R.3
Hou, Y.4
Lechtreck, K.F.5
Rosenbaum, J.L.6
Witman, G.B.7
-
11
-
-
84862507047
-
The ciliopathies: a transitional model into systems biology of human genetic disease
-
Davis, E.E., and N. Katsanis. 2012. The ciliopathies: a transitional model into systems biology of human genetic disease. Curr. Opin. Genet. Dev. 22:290-303. http://dx.doi.org/10.1016/j.gde.2012.04.006
-
(2012)
Curr. Opin. Genet. Dev.
, vol.22
, pp. 290-303
-
-
Davis, E.E.1
Katsanis, N.2
-
12
-
-
80051501226
-
Disruption of a ciliary B9 protein complex causes Meckel syndrome
-
Dowdle, W.E., J.F. Robinson, A. Kneist, M.S. Sirerol-Piquer, S.G.M. Frints, K.C. Corbit, N.A. Zaghloul, G. van Lijnschoten, L. Mulders, D.E. Verver, et al. 2011. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am. J. Hum. Genet. 89:94-110. http://dx.doi.org/10.1016/j.ajhg.2011.06.003
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 94-110
-
-
Dowdle, W.E.1
Robinson, J.F.2
Kneist, A.3
Sirerol-Piquer, M.S.4
Frints, S.G.M.5
Corbit, K.C.6
Zaghloul, N.A.7
van Lijnschoten, G.8
Mulders, L.9
Verver, D.E.10
-
13
-
-
84902257795
-
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
-
Failler, M., H.Y. Gee, P. Krug, K. Joo, J. Halbritter, L. Belkacem, E. Filhol, J.D. Porath, D.A. Braun, M. Schueler, et al. 2014. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am. J. Hum. Genet. 94:905-914. http://dx.doi.org/10.1016/j.ajhg.2014.05.002
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 905-914
-
-
Failler, M.1
Gee, H.Y.2
Krug, P.3
Joo, K.4
Halbritter, J.5
Belkacem, L.6
Filhol, E.7
Porath, J.D.8
Braun, D.A.9
Schueler, M.10
-
14
-
-
33748056457
-
Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia
-
Fliegauf, M., J. Horvath, C. von Schnakenburg, H. Olbrich, D. Müller, J. Thumfart, B. Schermer, G.J. Pazour, H.P.H. Neumann, H. Zentgraf, et al. 2006. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J. Am. Soc. Nephrol. 17:2424-2433. http://dx.doi.org/10.1681/ASN.2005121351
-
(2006)
J. Am. Soc. Nephrol.
, vol.17
, pp. 2424-2433
-
-
Fliegauf, M.1
Horvath, J.2
von Schnakenburg, C.3
Olbrich, H.4
Müller, D.5
Thumfart, J.6
Schermer, B.7
Pazour, G.J.8
Neumann, H.P.H.9
Zentgraf, H.10
-
15
-
-
84863992161
-
Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access
-
Garcia-Gonzalo, F.R., and J.F. Reiter. 2012. Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access. J. Cell Biol. 197:697-709. http://dx.doi.org/10.1083/jcb.201111146
-
(2012)
J. Cell Biol.
, vol.197
, pp. 697-709
-
-
Garcia-Gonzalo, F.R.1
Reiter, J.F.2
-
16
-
-
79960900387
-
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
-
Garcia-Gonzalo, F.R., K.C. Corbit, M.S. Sirerol-Piquer, G. Ramaswami, E.A. Otto, T.R. Noriega, A.D. Seol, J.F. Robinson, C.L. Bennett, D.J. Josifova, et al. 2011. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43:776-784. http://dx.doi.org/10.1038/ng.891
-
(2011)
Nat. Genet.
, vol.43
, pp. 776-784
-
-
Garcia-Gonzalo, F.R.1
Corbit, K.C.2
Sirerol-Piquer, M.S.3
Ramaswami, G.4
Otto, E.A.5
Noriega, T.R.6
Seol, A.D.7
Robinson, J.F.8
Bennett, C.L.9
Josifova, D.J.10
-
17
-
-
77953662946
-
The primary cilium as a Hedgehog signal transduction machine
-
Goetz, S.C., P.J.R. Ocbina, and K.V. Anderson. 2009. The primary cilium as a Hedgehog signal transduction machine. Methods Cell Biol. 94:199-222. http://dx.doi.org/10.1016/S0091-679X(08)94010-3
-
(2009)
Methods Cell Biol.
, vol.94
, pp. 199-222
-
-
Goetz, S.C.1
Ocbina, P.J.R.2
Anderson, K.V.3
-
18
-
-
55249102622
-
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
-
Gorden, N.T., H.H. Arts, M.A. Parisi, K.L.M. Coene, S.J.F. Letteboer, S.E.C. van Beersum, D.A. Mans, A. Hikida, M. Eckert, D. Knutzen, et al. 2008. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am. J. Hum. Genet. 83:559-571. http://dx.doi.org/10.1016/j.ajhg.2008.10.002
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 559-571
-
-
Gorden, N.T.1
Arts, H.H.2
Parisi, M.A.3
Coene, K.L.M.4
Letteboer, S.J.F.5
van Beersum, S.E.C.6
Mans, D.A.7
Hikida, A.8
Eckert, M.9
Knutzen, D.10
-
19
-
-
84890252917
-
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
-
Gordon, C.T., F. Petit, P.M. Kroisel, L. Jakobsen, R.M. Zechi-Ceide, M. Oufadem, C. Bole-Feysot, S. Pruvost, C. Masson, F. Tores, et al. 2013. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Am. J. Hum. Genet. 93:1118-1125. http://dx.doi.org/10.1016/j.ajhg.2013.10.023
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 1118-1125
-
-
Gordon, C.T.1
Petit, F.2
Kroisel, P.M.3
Jakobsen, L.4
Zechi-Ceide, R.M.5
Oufadem, M.6
Bole-Feysot, C.7
Pruvost, S.8
Masson, C.9
Tores, F.10
-
20
-
-
84872018952
-
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
-
Halbritter, J., K. Diaz, M. Chaki, J.D. Porath, B. Tarrier, C. Fu, J.L. Innis, S.J. Allen, R.H. Lyons, C.J. Stefanidis, et al. 2012. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J. Med. Genet. 49:756-767. http://dx.doi.org/10.1136/jmedgenet-2012-100973
-
(2012)
J. Med. Genet.
, vol.49
, pp. 756-767
-
-
Halbritter, J.1
Diaz, K.2
Chaki, M.3
Porath, J.D.4
Tarrier, B.5
Fu, C.6
Innis, J.L.7
Allen, S.J.8
Lyons, R.H.9
Stefanidis, C.J.10
-
21
-
-
84890219086
-
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
-
Halbritter, J., A.A. Bizet, M. Schmidts, J.D. Porath, D.A. Braun, H.Y. Gee, A.M. McInerney-Leo, P. Krug, E. Filhol, E.E. Davis, et al. 2013. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am. J. Hum. Genet. 93:915-925. http://dx.doi.org/10.1016/j.ajhg.2013.09.012
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 915-925
-
-
Halbritter, J.1
Bizet, A.A.2
Schmidts, M.3
Porath, J.D.4
Braun, D.A.5
Gee, H.Y.6
McInerney-Leo, A.M.7
Krug, P.8
Filhol, E.9
Davis, E.E.10
-
23
-
-
17144431776
-
Communicating with Hedgehogs
-
Hooper, J.E., and M.P. Scott. 2005. Communicating with Hedgehogs. Nat. Rev. Mol. Cell Biol. 6:306-317. http://dx.doi.org/10.1038/nrm1622
-
(2005)
Nat. Rev. Mol. Cell Biol.
, vol.6
, pp. 306-317
-
-
Hooper, J.E.1
Scott, M.P.2
-
24
-
-
79958763043
-
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exonenriched next-generation sequencing and deletion analysis
-
Hopp, K., C.M. Heyer, C.J. Hommerding, S.A. Henke, J.L. Sundsbak, S. Patel, P. Patel, M.B. Consugar, P.G. Czarnecki, T.J. Gliem, et al. 2011. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exonenriched next-generation sequencing and deletion analysis. Hum. Mol. Genet. 20:2524-2534. http://dx.doi.org/10.1093/hmg/ddr151
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2524-2534
-
-
Hopp, K.1
Heyer, C.M.2
Hommerding, C.J.3
Henke, S.A.4
Sundsbak, J.L.5
Patel, S.6
Patel, P.7
Consugar, M.B.8
Czarnecki, P.G.9
Gliem, T.J.10
-
25
-
-
77954841928
-
A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution
-
Hu, Q., L. Milenkovic, H. Jin, M.P. Scott, M.V. Nachury, E.T. Spiliotis, and W.J. Nelson. 2010. A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution. Science. 329:436-439. http://dx.doi.org/10.1126/science.1191054
-
(2010)
Science
, vol.329
, pp. 436-439
-
-
Hu, Q.1
Milenkovic, L.2
Jin, H.3
Scott, M.P.4
Nachury, M.V.5
Spiliotis, E.T.6
Nelson, W.J.7
-
26
-
-
83455253776
-
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
-
Huang, L., K. Szymanska, V.L. Jensen, A.R. Janecke, A.M. Innes, E.E. Davis, P. Frosk, C. Li, J.R. Willer, B.N. Chodirker, et al. 2011. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am. J. Hum. Genet. 89:713-730. http://dx.doi.org/10.1016/j.ajhg.2011.11.005
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 713-730
-
-
Huang, L.1
Szymanska, K.2
Jensen, V.L.3
Janecke, A.R.4
Innes, A.M.5
Davis, E.E.6
Frosk, P.7
Li, C.8
Willer, J.R.9
Chodirker, B.N.10
-
27
-
-
23844485210
-
Cilia and Hedgehog responsiveness in the mouse
-
Huangfu, D., and K.V. Anderson. 2005. Cilia and Hedgehog responsiveness in the mouse. Proc. Natl. Acad. Sci. USA. 102:11325-11330. http://dx.doi.org/10.1073/pnas.0505328102
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 11325-11330
-
-
Huangfu, D.1
Anderson, K.V.2
-
28
-
-
84870350388
-
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting
-
Humbert, M.C., K. Weihbrecht, C.C. Searby, Y. Li, R.M. Pope, V.C. Sheffield, and S. Seo. 2012. ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc. Natl. Acad. Sci. USA. 109:19691-19696. http://dx.doi.org/10.1073/pnas.1210916109
-
(2012)
Proc. Natl. Acad. Sci. USA
, vol.109
, pp. 19691-19696
-
-
Humbert, M.C.1
Weihbrecht, K.2
Searby, C.C.3
Li, Y.4
Pope, R.M.5
Sheffield, V.C.6
Seo, S.7
-
29
-
-
69349095810
-
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
-
Jacoby, M., J.J. Cox, S. Gayral, D.J. Hampshire, M. Ayub, M. Blockmans, E. Pernot, M.V. Kisseleva, P. Compère, S.N. Schiffmann, et al. 2009. INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat. Genet. 41:1027-1031. http://dx.doi.org/10.1038/ng.427
-
(2009)
Nat. Genet.
, vol.41
, pp. 1027-1031
-
-
Jacoby, M.1
Cox, J.J.2
Gayral, S.3
Hampshire, D.J.4
Ayub, M.5
Blockmans, M.6
Pernot, E.7
Kisseleva, M.V.8
Compère, P.9
Schiffmann, S.N.10
-
30
-
-
70350719356
-
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
-
Mougou-Zerelli, S., S. Thomas, E. Szenker, S. Audollent, N. Elkhartoufi, C. Babarit, S. Romano, R. Salomon, J. Amiel, C. Esculpavit, et al. 2009. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum. Mutat. 30:1574-1582. http://dx.doi.org/10.1002/humu.21116
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1574-1582
-
-
Mougou-Zerelli, S.1
Thomas, S.2
Szenker, E.3
Audollent, S.4
Elkhartoufi, N.5
Babarit, C.6
Romano, S.7
Salomon, R.8
Amiel, J.9
Esculpavit, C.10
-
31
-
-
70349659803
-
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
-
Otto, E.A., K. Tory, M. Attanasio, W. Zhou, M. Chaki, Y. Paruchuri, E.L. Wise, M.T.F. Wolf, B. Utsch, C. Becker, et al. 2009. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J. Med. Genet. 46:663-670. http://dx.doi.org/10.1136/jmg.2009.066613
-
(2009)
J. Med. Genet.
, vol.46
, pp. 663-670
-
-
Otto, E.A.1
Tory, K.2
Attanasio, M.3
Zhou, W.4
Chaki, M.5
Paruchuri, Y.6
Wise, E.L.7
Wolf, M.T.F.8
Utsch, B.9
Becker, C.10
-
32
-
-
29944444497
-
Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition
-
Reiter, J.F., and W.C. Skarnes. 2006. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. Genes Dev. 20:22-27. http://dx.doi.org/10.1101/gad.1363606
-
(2006)
Genes Dev.
, vol.20
, pp. 22-27
-
-
Reiter, J.F.1
Skarnes, W.C.2
-
33
-
-
84863327175
-
The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization
-
Reiter, J.F., O.E. Blacque, and M.R. Leroux. 2012. The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization. EMBO Rep. 13:608-618. http://dx.doi.org/10.1038/embor.2012.73
-
(2012)
EMBO Rep.
, vol.13
, pp. 608-618
-
-
Reiter, J.F.1
Blacque, O.E.2
Leroux, M.R.3
-
34
-
-
84900873114
-
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
-
Romani, M., A. Micalizzi, I. Kraoua, M.T. Dotti, M. Cavallin, L. Sztriha, R. Ruta, F. Mancini, T. Mazza, S. Castellana, et al. 2014. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J. Rare Dis. 9:72. http://dx.doi.org/10.1186/1750-1172-9-72
-
(2014)
Orphanet J. Rare Dis.
, vol.9
, pp. 72
-
-
Romani, M.1
Micalizzi, A.2
Kraoua, I.3
Dotti, M.T.4
Cavallin, M.5
Sztriha, L.6
Ruta, R.7
Mancini, F.8
Mazza, T.9
Castellana, S.10
-
35
-
-
0021280772
-
The Meckel syndrome: clinicopathological findings in 67 patients
-
Salonen, R. 1984. The Meckel syndrome: clinicopathological findings in 67 patients. Am. J. Med. Genet. 18:671-689. http://dx.doi.org/10.1002/ajmg.1320180414
-
(1984)
Am. J. Med. Genet.
, vol.18
, pp. 671-689
-
-
Salonen, R.1
-
36
-
-
79955808192
-
Mapping the NPHP-JBTSMKS protein network reveals ciliopathy disease genes and pathways
-
Sang, L., J.J. Miller, K.C. Corbit, R.H. Giles, M.J. Brauer, E.A. Otto, L.M. Baye, X. Wen, S.J. Scales, M. Kwong, et al. 2011. Mapping the NPHP-JBTSMKS protein network reveals ciliopathy disease genes and pathways. Cell. 145:513-528. http://dx.doi.org/10.1016/j.cell.2011.04.019
-
(2011)
Cell
, vol.145
, pp. 513-528
-
-
Sang, L.1
Miller, J.J.2
Corbit, K.C.3
Giles, R.H.4
Brauer, M.J.5
Otto, E.A.6
Baye, L.M.7
Wen, X.8
Scales, S.J.9
Kwong, M.10
-
37
-
-
79957622466
-
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
-
Shaheen, R., E. Faqeih, M.Z. Seidahmed, A. Sunker, F.E. Alali, K. AlQahtani, and F.S. Alkuraya. 2011. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum. Mutat. 32:573-578. http://dx.doi.org/10.1002/humu.21507
-
(2011)
Hum. Mutat.
, vol.32
, pp. 573-578
-
-
Shaheen, R.1
Faqeih, E.2
Seidahmed, M.Z.3
Sunker, A.4
Alali, F.E.5
AlQahtani, K.6
Alkuraya, F.S.7
-
38
-
-
84874771371
-
Mutations in TMEM231 cause Meckel-Gruber syndrome
-
Shaheen, R., S. Ansari, E.A. Mardawi, M.J. Alshammari, and F.S. Alkuraya. 2013. Mutations in TMEM231 cause Meckel-Gruber syndrome. J. Med. Genet. 50:160-162. http://dx.doi.org/10.1136/jmedgenet-2012-101431
-
(2013)
J. Med. Genet.
, vol.50
, pp. 160-162
-
-
Shaheen, R.1
Ansari, S.2
Mardawi, E.A.3
Alshammari, M.J.4
Alkuraya, F.S.5
-
39
-
-
0027527244
-
Orofaciodigital syndrome type III in two sibs
-
Smith, R.A., and D. Gardner-Medwin. 1993. Orofaciodigital syndrome type III in two sibs. J. Med. Genet. 30:870-872. http://dx.doi.org/10.1136/jmg.30.10.870
-
(1993)
J. Med. Genet.
, vol.30
, pp. 870-872
-
-
Smith, R.A.1
Gardner-Medwin, D.2
-
40
-
-
31744441248
-
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
-
Smith, U.M., M. Consugar, L.J. Tee, B.M. McKee, E.N. Maina, S. Whelan, N.V. Morgan, E. Goranson, P. Gissen, S. Lilliquist, et al. 2006. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat. Genet. 38:191-196.
-
(2006)
Nat. Genet.
, vol.38
, pp. 191-196
-
-
Smith, U.M.1
Consugar, M.2
Tee, L.J.3
McKee, B.M.4
Maina, E.N.5
Whelan, S.6
Morgan, N.V.7
Goranson, E.8
Gissen, P.9
Lilliquist, S.10
-
41
-
-
84870294495
-
Mutations in TMEM231 cause Joubert syndrome in French Canadians
-
Srour, M., F.F. Hamdan, J.A. Schwartzentruber, L. Patry, L.H. Ospina, M.I. Shevell, V. Désilets, S. Dobrzeniecka, G. Mathonnet, E. Lemyre, et al. 2012. Mutations in TMEM231 cause Joubert syndrome in French Canadians. J. Med. Genet. 49:636-641. http://dx.doi.org/10.1136/jmedgenet-2012-101132
-
(2012)
J. Med. Genet.
, vol.49
, pp. 636-641
-
-
Srour, M.1
Hamdan, F.F.2
Schwartzentruber, J.A.3
Patry, L.4
Ospina, L.H.5
Shevell, M.I.6
Désilets, V.7
Dobrzeniecka, S.8
Mathonnet, G.9
Lemyre, E.10
-
42
-
-
0015173976
-
See-saw winking in a familial oral-facial-digital syndrome
-
Sugarman, G.I., M. Katakia, and J. Menkes. 1971. See-saw winking in a familial oral-facial-digital syndrome. Clin. Genet. 2:248-254. http://dx.doi.org/10.1111/j.1399-0004.1971.tb00285.x
-
(1971)
Clin. Genet.
, vol.2
, pp. 248-254
-
-
Sugarman, G.I.1
Katakia, M.2
Menkes, J.3
-
43
-
-
77954491295
-
A mouse knockout library for secreted and transmembrane proteins
-
Tang, T., L. Li, J. Tang, Y. Li, W.Y. Lin, F. Martin, D. Grant, M. Solloway, L. Parker, W. Ye, et al. 2010. A mouse knockout library for secreted and transmembrane proteins. Nat. Biotechnol. 28:749-755. http://dx.doi.org/10.1038/nbt.1644
-
(2010)
Nat. Biotechnol.
, vol.28
, pp. 749-755
-
-
Tang, T.1
Li, L.2
Tang, J.3
Li, Y.4
Lin, W.Y.5
Martin, F.6
Grant, D.7
Solloway, M.8
Parker, L.9
Ye, W.10
-
44
-
-
84864949904
-
TCTN3 mutations cause Mohr-Majewski syndrome
-
Thomas, S., M. Legendre, S. Saunier, B. Bessières, C. Alby, M. Bonnière, A. Toutain, L. Loeuillet, K. Szymanska, F. Jossic, et al. 2012. TCTN3 mutations cause Mohr-Majewski syndrome. Am. J. Hum. Genet. 91:372-378. http://dx.doi.org/10.1016/j.ajhg.2012.06.017
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 372-378
-
-
Thomas, S.1
Legendre, M.2
Saunier, S.3
Bessières, B.4
Alby, C.5
Bonnière, M.6
Toutain, A.7
Loeuillet, L.8
Szymanska, K.9
Jossic, F.10
-
45
-
-
84877694426
-
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions
-
Tuz, K., Y.C. Hsiao, O. Juárez, B. Shi, E.Y. Harmon, I.G. Phelps, M.R. Lennartz, I.A. Glass, D. Doherty, and R.J. Ferland. 2013. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem. 288:13676-13694. http://dx.doi.org/10.1074/jbc. M112.420786
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 13676-13694
-
-
Tuz, K.1
Hsiao, Y.C.2
Juárez, O.3
Shi, B.4
Harmon, E.Y.5
Phelps, I.G.6
Lennartz, M.R.7
Glass, I.A.8
Doherty, D.9
Ferland, R.J.10
-
46
-
-
84896009017
-
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline
-
11.10.1-11.10.33
-
Van der Auwera, G.A., M.O. Carneiro, C. Hartl, R. Poplin, G. Del Angel, A. Levy-Moonshine, T. Jordan, K. Shakir, D. Roazen, J. Thibault, et al. 2013. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr. Protoc. Bioinformatics. 11:11.10.1-11.10.33.
-
(2013)
Curr. Protoc. Bioinformatics
, vol.11
-
-
van der Auwera, G.A.1
Carneiro, M.O.2
Hartl, C.3
Poplin, R.4
Del Angel, G.5
Levy-Moonshine, A.6
Jordan, T.7
Shakir, K.8
Roazen, D.9
Thibault, J.10
-
47
-
-
2942609176
-
Shhdependent differentiation of intestinal tissue from embryonic pancreas by activin A
-
van Eyll, J.M., C.E. Pierreux, F.P. Lemaigre, and G.G. Rousseau. 2004. Shhdependent differentiation of intestinal tissue from embryonic pancreas by activin A. J. Cell Sci. 117:2077-2086. http://dx.doi.org/10.1242/jcs.01067
-
(2004)
J. Cell Sci.
, vol.117
, pp. 2077-2086
-
-
van Eyll, J.M.1
Pierreux, C.E.2
Lemaigre, F.P.3
Rousseau, G.G.4
-
48
-
-
70449353527
-
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling
-
Weatherbee, S.D., L.A. Niswander, and K.V. Anderson. 2009. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum. Mol. Genet. 18:4565-4575. http://dx.doi.org/10.1093/hmg/ddp422
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4565-4575
-
-
Weatherbee, S.D.1
Niswander, L.A.2
Anderson, K.V.3
-
49
-
-
79955513961
-
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
-
Williams, C.L., C. Li, K. Kida, P.N. Inglis, S. Mohan, L. Semenec, N.J. Bialas, R.M. Stupay, N. Chen, O.E. Blacque, et al. 2011. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J. Cell Biol. 192:1023-1041. http://dx.doi.org/10.1083/jcb.201012116
-
(2011)
J. Cell Biol.
, vol.192
, pp. 1023-1041
-
-
Williams, C.L.1
Li, C.2
Kida, K.3
Inglis, P.N.4
Mohan, S.5
Semenec, L.6
Bialas, N.J.7
Stupay, R.M.8
Chen, N.9
Blacque, O.E.10
-
50
-
-
0032540226
-
Somatic inactivation of Pkd2 results in polycystic kidney disease
-
Wu, G., V. D'Agati, Y. Cai, G. Markowitz, J.H. Park, D.M. Reynolds, Y. Maeda, T.C. Le, H. Hou Jr., R. Kucherlapati, et al. 1998. Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell. 93:177-188. http://dx.doi.org/10.1016/S0092-8674(00)81570-6
-
(1998)
Cell
, vol.93
, pp. 177-188
-
-
Wu, G.1
D'Agati, V.2
Cai, Y.3
Markowitz, G.4
Park, J.H.5
Reynolds, D.M.6
Maeda, Y.7
Le, T.C.8
Hou, H.9
Kucherlapati, R.10
-
51
-
-
0036785149
-
The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are colocalized in renal cilia
-
Yoder, B.K., X. Hou, and L.M. Guay-Woodford. 2002. The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are colocalized in renal cilia. J. Am. Soc. Nephrol. 13:2508-2516. http://dx.doi.org/10.1097/01.ASN.0000029587.47950.25
-
(2002)
J. Am. Soc. Nephrol.
, vol.13
, pp. 2508-2516
-
-
Yoder, B.K.1
Hou, X.2
Guay-Woodford, L.M.3
|