-
1
-
-
33748769378
-
The ciliopathies: An emerging class of human genetic disorders
-
DOI 10.1146/annurev.genom.7.080505.115610
-
Badano, J.L., Mitsuma, N., Beales, P.L. & Katsanis, N. The ciliopathies: an emerging class of human genetic disorders. Annu. Rev. Genomics Hum. Genet. 7, 125-148 (2006). (Pubitemid 44627925)
-
(2006)
Annual Review of Genomics and Human Genetics
, vol.7
, pp. 125-148
-
-
Badano, J.L.1
Mitsuma, N.2
Beales, P.L.3
Katsanis, N.4
-
2
-
-
0014572497
-
Familial agenesis of the cerebellar vermis
-
Joubert, M., Eisenring, J.J., Robb, J.P. & Andermann, F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology 19, 813-825 (1969).
-
(1969)
A Syndrome of Episodic Hyperpnea, Abnormal Eye Movements, Ataxia and Retardation. Neurology
, vol.19
, pp. 813-825
-
-
Joubert, M.1
Eisenring, J.J.2
Robb, J.P.3
Andermann, F.4
-
3
-
-
27744518340
-
Genetic basis of Joubert syndrome and related disorders of cerebellar development
-
DOI 10.1093/hmg/ddi264
-
Louie, C.M. & Gleeson, J.G. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum. Mol. Genet. 14Suppl. 2, R235-R242 (2005). (Pubitemid 41631892)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.SUPPL. 2
-
-
Louie, C.M.1
Gleeson, J.G.2
-
4
-
-
8844271686
-
Mutations in the AHI1 gene, encoding Jouberin, cause Jeubert syndrome with cortical polymicrogyria
-
DOI 10.1086/425985
-
Dixon-Salazar, T. et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am. J. Hum. Genet. 75, 979-987 (2004). (Pubitemid 39532068)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.6
, pp. 979-987
-
-
Dixon-Salazar, T.1
Silhavy, J.L.2
Marsh, S.E.3
Louie, C.M.4
Scott, L.C.5
Gururaj, A.6
Al-Gazali, L.7
Al-Tawari, A.A.8
Kayserili, H.9
Sztriha, L.10
Gleeson, J.G.11
-
5
-
-
4444311117
-
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
-
DOI 10.1038/ng1419
-
Ferland, R.J. et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat. Genet. 36, 1008-1013 (2004). (Pubitemid 39167500)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, pp. 1008-1013
-
-
Ferland, R.J.1
Eyaid, W.2
Collura, R.V.3
Tully, L.D.4
Hill, R.S.5
Al-Nouri, D.6
Al-Rumayyan, A.7
Topcu, M.8
Gascon, G.9
Bodell, A.10
Shugart, Y.Y.11
Ruvolo, M.12
Walsh, C.A.13
-
6
-
-
33745225873
-
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
-
DOI 10.1038/ng1805, PII N1805
-
Valente, E.M. et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat. Genet. 38, 623-625 (2006). (Pubitemid 43927302)
-
(2006)
Nature Genetics
, vol.38
, Issue.6
, pp. 623-625
-
-
Valente, E.M.1
Silhavy, J.L.2
Brancati, F.3
Barrano, G.4
Krishnaswami, S.R.5
Castori, M.6
Lancaster, M.A.7
Boltshauser, E.8
Boccone, L.9
Al-Gazali, L.10
Fazzi, E.11
Signorini, S.12
Louie, C.M.13
Bellacchio, E.14
Bertini, E.15
Dallapiccola, B.16
Gleeson, J.G.17
-
7
-
-
33745230448
-
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
-
DOI 10.1038/ng1786, PII N1786
-
Sayer, J.A. et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38, 674-681 (2006). (Pubitemid 43927310)
-
(2006)
Nature Genetics
, vol.38
, Issue.6
, pp. 674-681
-
-
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
Lee, H.18
Larson, R.G.19
Allen, S.J.20
Wilkinson, C.J.21
Nigg, E.A.22
Shou, C.23
Lillo, C.24
Williams, D.S.25
Hoppe, B.26
Kemper, M.J.27
Neuhaus, T.28
Parisi, M.A.29
Glass, I.A.30
Petry, M.31
Kispert, A.32
Gloy, J.33
Ganner, A.34
Walz, G.35
Zhu, X.36
Goldman, D.37
Nurnberg, P.38
Swaroop, A.39
Leroux, M.R.40
Hildebrandt, F.41
more..
-
8
-
-
69949172478
-
Impaired Wnt-β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
-
Lancaster, M.A. et al. Impaired Wnt-β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat. Med. 15, 1046-1054 (2009).
-
(2009)
Nat. Med.
, vol.15
, pp. 1046-1054
-
-
Lancaster, M.A.1
-
9
-
-
0031149476
-
Activation of the Wnt signaling pathway: A molecular mechanism for lithium action
-
DOI 10.1006/dbio.1997.8552
-
Hedgepeth, C.M. et al. Activation of the Wnt signaling pathway: a molecular mechanism for lithium action. Dev. Biol. 185, 82-91 (1997). (Pubitemid 27244219)
-
(1997)
Developmental Biology
, vol.185
, Issue.1
, pp. 82-91
-
-
Hedgepeth, C.M.1
Conrad, L.J.2
Zhang, J.3
Huang, H.-C.4
Lee, V.M.Y.5
Klein, P.S.6
-
10
-
-
34848902919
-
Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool
-
DOI 10.1523/JNEUROSCI.5586-06.2007
-
Chizhikov, V.V. et al. Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. J. Neurosci. 27, 9780-9789 (2007). (Pubitemid 47492193)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.36
, pp. 9780-9789
-
-
Chizhikov, V.V.1
Davenport, J.2
Zhang, Q.3
Shih, E.K.4
Cabello, O.A.5
Fuchs, J.L.6
Yoder, B.K.7
Millen, K.J.8
-
11
-
-
42649103998
-
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
-
Spassky, N. et al. Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev. Biol. 317, 246-259 (2008).
-
(2008)
Dev. Biol.
, vol.317
, pp. 246-259
-
-
Spassky, N.1
-
12
-
-
67649833788
-
The primary cilium as a complex signaling center
-
Berbari, N.F., O'Connor, A.K., Haycraft, C.J. & Yoder, B.K. The primary cilium as a complex signaling center. Curr. Biol. 19, R526-R535 (2009).
-
(2009)
Curr. Biol.
, vol.19
-
-
Berbari, N.F.1
O'Connor, A.K.2
Haycraft, C.J.3
Yoder, B.K.4
-
13
-
-
68649098302
-
The primary cilium as a cellular signaling center: Lessons from disease
-
Lancaster, M.A. & Gleeson, J.G. The primary cilium as a cellular signaling center: lessons from disease. Curr. Opin. Genet. Dev. 19, 220-229 (2009).
-
(2009)
Curr. Opin. Genet. Dev.
, vol.19
, pp. 220-229
-
-
Lancaster, M.A.1
Gleeson, J.G.2
-
14
-
-
75749156683
-
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
-
Louie, C.M. et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat. Genet. 42, 175-180 (2010).
-
(2010)
Nat. Genet.
, vol.42
, pp. 175-180
-
-
Louie, C.M.1
-
15
-
-
0025773710
-
Genetic analysis of cerebellar foliation patterns in mice (Mus musculus)
-
Cooper, P.A., Benno, R.H., Hahn, M.E. & Hewitt, J.K. Genetic analysis of cerebellar foliation patterns in mice (Mus musculus). Behav. Genet. 21, 405-419 (1991).
-
(1991)
Behav. Genet.
, vol.21
, pp. 405-419
-
-
Cooper, P.A.1
Benno, R.H.2
Hahn, M.E.3
Hewitt, J.K.4
-
16
-
-
0032833614
-
Neuropathology of Joubert syndrome
-
Yachnis, A.T. & Rorke, L.B. Neuropathology of Joubert syndrome. J. Child Neurol. 14, 655-659, discussion 669-672 (1999). (Pubitemid 29489118)
-
(1999)
Journal of Child Neurology
, vol.14
, Issue.10
, pp. 655-659
-
-
Yachnis, A.T.1
Rorke, L.B.2
-
17
-
-
0018079385
-
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome
-
Friede, R.L. & Boltshauser, E. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev. Med. Child Neurol. 20, 758-763 (1978). (Pubitemid 9073824)
-
(1978)
Developmental Medicine and Child Neurology
, vol.20
, Issue.6
, pp. 758-763
-
-
Friede, R.L.1
Boltshauser, E.2
-
18
-
-
10344248682
-
Spatial pattern of sonic hedgehog signaling through Gli genes during cerebellum development
-
DOI 10.1242/dev.01438
-
Corrales, J.D., Rocco, G.L., Blaess, S., Guo, Q. & Joyner, A.L. Spatial pattern of sonic hedgehog signaling through Gli genes during cerebellum development. Development 131, 5581-5590 (2004). (Pubitemid 39625202)
-
(2004)
Development
, vol.131
, Issue.22
, pp. 5581-5590
-
-
Corrales, J.D.1
Rocco, G.L.2
Blaess, S.3
Guo, Q.4
Joyner, A.L.5
-
19
-
-
0037232580
-
Nmyc upregulation by sonic hedgehog signaling promotes proliferation in developing cerebellar granule neuron precursors
-
DOI 10.1242/dev.00182
-
Kenney, A.M., Cole, M.D. & Rowitch, D.H. Nmyc upregulation by sonic hedgehog signaling promotes proliferation in developing cerebellar granule neuron precursors. Development 130, 15-28 (2003). (Pubitemid 36113940)
-
(2003)
Development
, vol.130
, Issue.1
, pp. 15-28
-
-
Kenney, A.M.1
Cole, M.D.2
Rowitch, D.H.3
-
20
-
-
33744757686
-
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
-
DOI 10.1093/hmg/ddl107
-
Chang, B. et al. 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. Hum. Mol. Genet. 15, 1847-1857 (2006). (Pubitemid 43821775)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.11
, pp. 1847-1857
-
-
Chang, B.1
Khanna, H.2
Hawes, N.3
Jimeno, D.4
He, S.5
Lillo, C.6
Parapuram, S.K.7
Cheng, H.8
Scott, A.9
Hurd, R.E.10
Sayer, J.A.11
Otto, E.A.12
Attanasio, M.13
O'Toole, J.F.14
Jin, G.15
Shou, C.16
Hildebrandt, F.17
Williams, D.S.18
Heckenlively, J.R.19
Swaroop, A.20
more..
-
21
-
-
77956388187
-
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
-
Craige, B. et al. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J. Cell Biol. 190, 927-940 (2010).
-
(2010)
J. Cell Biol.
, vol.190
, pp. 927-940
-
-
Craige, B.1
-
22
-
-
0141627447
-
Development and developmental disorders of the human cerebellum
-
DOI 10.1007/s00415-003-0199-9
-
ten Donkelaar, H.J., Lammens, M., Wesseling, P., Thijssen, H.O. & Renier, W.O. Development and developmental disorders of the human cerebellum. J. Neurol. 250, 1025-1036 (2003). (Pubitemid 37152550)
-
(2003)
Journal of Neurology
, vol.250
, Issue.9
, pp. 1025-1036
-
-
Ten Donkelaar, H.J.1
Lammens, M.2
Wesseling, P.3
Thijssen, H.O.M.4
Renier, W.O.5
-
23
-
-
33645774086
-
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
-
Parisi, M.A. et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J. Med. Genet. 43, 334-339 (2006).
-
(2006)
J. Med. Genet.
, vol.43
, pp. 334-339
-
-
Parisi, M.A.1
-
24
-
-
33644821331
-
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
-
DOI 10.1002/ana.20749
-
Valente, E.M. et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann. Neurol. 59, 527-534 (2006). (Pubitemid 43358074)
-
(2006)
Annals of Neurology
, vol.59
, Issue.3
, pp. 527-534
-
-
Valente, E.M.1
Brancati, F.2
Silhavy, J.L.3
Castori, M.4
Marsh, S.E.5
Barrano, G.6
Bertini, E.7
Boltshauser, E.8
Zaki, M.S.9
Abdel-Aleem, A.10
Abdel-Salam, G.M.H.11
Bellacchio, E.12
Battini, R.13
Cruse, R.P.14
Dobyns, W.B.15
Krishnamoorthy, K.S.16
Lagier-Tourenne, C.17
Magee, A.18
Pascual-Castroviejo, I.19
Salpietro, C.D.20
Sarco, D.21
Dallapiccola, B.22
Gleeson, J.G.23
more..
-
25
-
-
0025790170
-
Swaying is a mutant allele of the proto-oncogene Wnt-1
-
Thomas, K.R., Musci, T.S., Neumann, P.E. & Capecchi, M.R. Swaying is a mutant allele of the proto-oncogene Wnt-1. Cell 67, 969-976 (1991). (Pubitemid 121001510)
-
(1991)
Cell
, vol.67
, Issue.5
, pp. 969-976
-
-
Thomas, K.R.1
Musci, T.S.2
Neumann, P.E.3
Capecchi, M.R.4
-
26
-
-
33847695354
-
β-catenin function is required for cerebellar morphogenesis
-
DOI 10.1016/j.brainres.2006.05.105, PII S0006899306016581, A Catalog of the Neurological Mutants of the Mouse Revisited
-
Schüller, U. & Rowitch, D.H. β-catenin function is required for cerebellar morphogenesis. Brain Res. 1140, 161-169 (2007). (Pubitemid 46371295)
-
(2007)
Brain Research
, vol.1140
, Issue.1
, pp. 161-169
-
-
Schuller, U.1
Rowitch, D.H.2
-
27
-
-
0344395648
-
The isthmic neuroepithelium is essential for cerebellar midline fusion
-
DOI 10.1242/dev.00736
-
Louvi, A., Alexandre, P., Metin, C., Wurst, W. & Wassef, M. The isthmic neuroepithelium is essential for cerebellar midline fusion. Development 130, 5319-5330 (2003). (Pubitemid 37484001)
-
(2003)
Development
, vol.130
, Issue.22
, pp. 5319-5330
-
-
Louvi, A.1
Alexandre, P.2
Metin, C.3
Wurst, W.4
Wassef, M.5
-
28
-
-
0037452932
-
Mapping Wnt/β-catenin signaling during mouse development and in colorectal tumors
-
DOI 10.1073/pnas.0434590100
-
Maretto, S. et al. Mapping Wnt/β-catenin signaling during mouse development and in colorectal tumors. Proc. Natl. Acad. Sci. USA 100, 3299-3304 (2003). (Pubitemid 36356577)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.6
, pp. 3299-3304
-
-
Maretto, S.1
Cordenonsi, M.2
Dupont, S.3
Braghetta, P.4
Broccoli, V.5
Hassan, A.B.6
Volpin, D.7
Bressan, G.M.8
Piccolo, S.9
-
29
-
-
34248554928
-
The transcription factor Zfp423/OAZ is required for cerebellar development and CNS midline patterning
-
DOI 10.1016/j.ydbio.2007.04.005, PII S001216060700766X
-
Cheng, L.E., Zhang, J. & Reed, R.R. The transcription factor Zfp423/OAZ is required for cerebellar development and CNS midline patterning. Dev. Biol. 307, 43-52 (2007). (Pubitemid 46890846)
-
(2007)
Developmental Biology
, vol.307
, Issue.1
, pp. 43-52
-
-
Cheng, L.E.1
Zhang, J.2
Reed, R.R.3
-
30
-
-
0028325992
-
Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants
-
Millen, K.J., Wurst, W., Herrup, K. & Joyner, A.L. Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants. Development 120, 695-706 (1994). (Pubitemid 24071210)
-
(1994)
Development
, vol.120
, Issue.3
, pp. 695-706
-
-
Millen, K.J.1
Wurst, W.2
Herrup, K.3
Joyner, A.L.4
-
31
-
-
70349211744
-
Wnt signaling regulates smooth muscle precursor development in the mouse lung via a tenascin C/PDGFR pathway
-
Cohen, E.D. et al. Wnt signaling regulates smooth muscle precursor development in the mouse lung via a tenascin C/PDGFR pathway. J. Clin. Invest. 119, 2538-2549 (2009).
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 2538-2549
-
-
Cohen, E.D.1
-
32
-
-
11844301282
-
Medulloblastoma: Developmental mechanisms out of control
-
DOI 10.1016/j.molmed.2004.11.008, PII S147149140400293X
-
Marino, S. Medulloblastoma: developmental mechanisms out of control. Trends Mol. Med. 11, 17-22 (2005). (Pubitemid 40092670)
-
(2005)
Trends in Molecular Medicine
, vol.11
, Issue.1
, pp. 17-22
-
-
Marino, S.1
-
33
-
-
70349569932
-
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking
-
Hsiao, Y.C. et al. Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum. Mol. Genet. 18, 3926-3941 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3926-3941
-
-
Hsiao, Y.C.1
-
34
-
-
56049117628
-
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
-
Kim, J., Krishnaswami, S.R. & Gleeson, J.G. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum. Mol. Genet. 17, 3796-3805 (2008).
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3796-3805
-
-
Kim, J.1
Krishnaswami, S.R.2
Gleeson, J.G.3
-
35
-
-
41149131357
-
BMPs oppose Math1 in cerebellar development and in medulloblastoma
-
DOI 10.1101/gad.1657808
-
Grimmer, M.R. & Weiss, W.A. BMPs oppose Math1 in cerebellar development and in medulloblastoma. Genes Dev. 22, 693-699 (2008). (Pubitemid 351439098)
-
(2008)
Genes and Development
, vol.22
, Issue.6
, pp. 693-699
-
-
Grimmer, M.R.1
Weiss, W.A.2
-
36
-
-
67650821924
-
Fibroblast growth factor (FGF) gene expression in the developing cerebellum suggests multiple roles for FGF signaling during cerebellar morphogenesis and development
-
Yaguchi, Y. et al. Fibroblast growth factor (FGF) gene expression in the developing cerebellum suggests multiple roles for FGF signaling during cerebellar morphogenesis and development. Dev. Dyn. 238, 2058-2072 (2009).
-
(2009)
Dev. Dyn.
, vol.238
, pp. 2058-2072
-
-
Yaguchi, Y.1
-
37
-
-
29544446945
-
Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration
-
DOI 10.1016/j.neuron.2005.10.040, PII S0896627305010640
-
Koizumi, H., Tanaka, T. & Gleeson, J.G. Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration. Neuron 49, 55-66 (2006). (Pubitemid 43017185)
-
(2006)
Neuron
, vol.49
, Issue.1
, pp. 55-66
-
-
Koizumi, H.1
Tanaka, T.2
Gleeson, J.G.3
-
38
-
-
77949512900
-
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders
-
Saleem, S.N. & Zaki, M.S. Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am. J. Neuroradiol. 31, 424-429 (2010).
-
(2010)
AJNR Am. J. Neuroradiol.
, vol.31
, pp. 424-429
-
-
Saleem, S.N.1
Zaki, M.S.2
-
39
-
-
0021952476
-
Neuronal regulation of astroglial morphology and proliferation in vitro
-
DOI 10.1083/jcb.100.2.384
-
Hatten, M.E. Neuronal regulation of astroglial morphology and proliferation in vitro. J. Cell Biol. 100, 384-396 (1985). (Pubitemid 15173244)
-
(1985)
Journal of Cell Biology
, vol.100
, Issue.2
, pp. 384-396
-
-
Hatten, M.E.1
-
40
-
-
67650476495
-
Reassessment of corticospinal tract regeneration in Nogo-deficient mice
-
Lee, J.K. et al. Reassessment of corticospinal tract regeneration in Nogo-deficient mice. J. Neurosci. 29, 8649-8654 (2009).
-
(2009)
J. Neurosci.
, vol.29
, pp. 8649-8654
-
-
Lee, J.K.1
|