-
1
-
-
84859264546
-
The ciliary transition zone: From morphology and molecules to medicine
-
Czarnecki, P. G. & Shah, J. V. The ciliary transition zone: from morphology and molecules to medicine. Trends Cell Biol. 22, 201-210 (2012).
-
(2012)
Trends Cell Biol.
, vol.22
, pp. 201-210
-
-
Czarnecki, P.G.1
Shah, J.V.2
-
2
-
-
79955808192
-
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
-
Sang, L. et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145, 513-528 (2011).
-
(2011)
Cell
, vol.145
, pp. 513-528
-
-
Sang, L.1
-
3
-
-
79960900387
-
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
-
Garcia-Gonzalo, F. R. et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43, 776-784 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 776-784
-
-
Garcia-Gonzalo, F.R.1
-
4
-
-
79955513961
-
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
-
Williams, C. L. et al. 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 (2011).
-
(2011)
J. Cell Biol.
, vol.192
, pp. 1023-1041
-
-
Williams, C.L.1
-
5
-
-
41549092173
-
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepaticpancreatic dysplasia
-
Bergmann, C. et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepaticpancreatic dysplasia. Am. J. Hum. Genet. 82, 959-970 (2008).
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 959-970
-
-
Bergmann, C.1
-
6
-
-
84871869444
-
Loss of the ciliary kinase Nek8 causes left-right asymmetry defects
-
Manning, D. K. et al. Loss of the ciliary kinase Nek8 causes left-right asymmetry defects. J. Am. Soc. Nephrol. 24, 100-112 (2012).
-
(2012)
J. Am. Soc. Nephrol.
, vol.24
, pp. 100-112
-
-
Manning, D.K.1
-
7
-
-
0035340514
-
Cardiopulmonary malformations in the inv/inv mouse
-
McQuinn, T. C., Miga, D. E., Mjaatvedt, C. H., Phelps, A. L. & Wessels, A. Cardiopulmonary malformations in the inv/inv mouse. Anat. Rec. 263, 62-71 (2001).
-
(2001)
Anat. Rec.
, vol.263
, pp. 62-71
-
-
McQuinn, T.C.1
Miga, D.E.2
Mjaatvedt, C.H.3
Phelps, A.L.4
Wessels, A.5
-
8
-
-
0031901840
-
Situs variation and cardiovascular anomalies in the transgenic mouse insertional mutation, inv
-
Morishima, M. et al. Situs variation and cardiovascular anomalies in the transgenic mouse insertional mutation, inv. Teratology 57, 302-309 (1998).
-
(1998)
Teratology
, vol.57
, pp. 302-309
-
-
Morishima, M.1
-
9
-
-
0027158027
-
Reversal of left-right asymmetry: A situs inversus mutation
-
Yokoyama, T. et al. Reversal of left-right asymmetry: A situs inversus mutation. Science 260, 679-682 (1993).
-
(1993)
Science
, vol.260
, pp. 679-682
-
-
Yokoyama, T.1
-
10
-
-
0036931712
-
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish
-
Liu, S. et al. A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. Development 129, 5839-5846 (2002).
-
(2002)
Development
, vol.129
, pp. 5839-5846
-
-
Liu, S.1
-
11
-
-
0027516445
-
Autosomal-dominant polycystic kidney disease in the rat
-
Cowley, B. D. et al. Autosomal-dominant polycystic kidney disease in the rat. Kidney Int. 43, 522-534 (1993).
-
(1993)
Kidney Int.
, vol.43
, pp. 522-534
-
-
Cowley, B.D.1
-
12
-
-
0042093746
-
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
-
Olbrich, H. et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat. Genet. 34, 455-459 (2003).
-
(2003)
Nat. Genet.
, vol.34
, pp. 455-459
-
-
Olbrich, H.1
-
13
-
-
0041592700
-
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. 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. 34, 413-420 (2003).
-
(2003)
Nat. Genet.
, vol.34
, pp. 413-420
-
-
Otto, E.A.1
-
14
-
-
40449102218
-
NEK8 Mutations affect ciliary and centrosomal localization and may cause nephronophthisis
-
Otto, E. A. et al. NEK8 Mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J. Am. Soc. Nephrol. 19, 587-592 (2008).
-
(2008)
J. Am. Soc. Nephrol.
, vol.19
, pp. 587-592
-
-
Otto, E.A.1
-
15
-
-
0026037722
-
A hereditary model of slowly progressive polycystic kidney disease in the mouse
-
Takahashi, H. et al. A hereditary model of slowly progressive polycystic kidney disease in the mouse. J. Am. Soc. Nephrol. 1, 980-989 (1991).
-
(1991)
J. Am. Soc. Nephrol.
, vol.1
, pp. 980-989
-
-
Takahashi, H.1
-
16
-
-
84864915551
-
A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domainin Nek8
-
McCooke, J. K. et al. A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domainin Nek8. BMC Genomics 13, 1-1 (2012).
-
(2012)
BMC Genomics
, vol.13
, pp. 1
-
-
McCooke, J.K.1
-
17
-
-
84882667020
-
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies
-
Choi, H. J. C. et al. NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies. Mol. Cell 51, 423-439 (2013).
-
(2013)
Mol. Cell
, vol.51
, pp. 423-439
-
-
Choi, H.J.C.1
-
18
-
-
84881028445
-
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
-
Hoff, S. et al. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat. Genet. 45, 951-956 (2013).
-
(2013)
Nat. Genet.
, vol.45
, pp. 951-956
-
-
Hoff, S.1
-
19
-
-
84881004101
-
Imaging techniques for visualizing and phenotyping congenital heart defects in murine models
-
Liu, X., Tobita, K., Francis, R. J. B. & Lo, C. W. Imaging techniques for visualizing and phenotyping congenital heart defects in murine models. Birth Defects Res. C Embryo Today 99, 93-105 (2013).
-
(2013)
Birth Defects Res. C Embryo Today
, vol.99
, pp. 93-105
-
-
Liu, X.1
Tobita, K.2
Francis, R.J.B.3
Lo, C.W.4
-
20
-
-
40449121293
-
Nek8 regulates the expression and localization of polycystin-1 and polycystin-2
-
Sohara, E. et al. Nek8 regulates the expression and localization of polycystin-1 and polycystin-2. J. Am. Soc. Nephrol. 19, 469-476 (2008).
-
(2008)
J. Am. Soc. Nephrol.
, vol.19
, pp. 469-476
-
-
Sohara, E.1
-
21
-
-
33645927665
-
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/) rat
-
Brown, J. H. et al. Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/) rat. J. Am. Soc. Nephrol. 16, 3517-3526 (2005).
-
(2005)
J. Am. Soc. Nephrol.
, vol.16
, pp. 3517-3526
-
-
Brown, J.H.1
-
22
-
-
0033212985
-
Abnormal nodal flow precedes situs inversus in IV and inv mice
-
Okada, Y. et al. Abnormal nodal flow precedes situs inversus in iv and inv mice. Mol. Cell 4, 459-468 (1999).
-
(1999)
Mol. Cell
, vol.4
, pp. 459-468
-
-
Okada, Y.1
-
23
-
-
79955162632
-
Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2
-
Field, S. et al. Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2. Development 138, 1131-1142 (2011).
-
(2011)
Development
, vol.138
, pp. 1131-1142
-
-
Field, S.1
-
24
-
-
0038784537
-
Two populations of node monocilia initiate left-right asymmetry in the mouse
-
McGrath, J., Somlo, S., Makova, S., Tian, X. & Brueckner, M. Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell 114, 61-73 (2003).
-
(2003)
Cell
, vol.114
, pp. 61-73
-
-
McGrath, J.1
Somlo, S.2
Makova, S.3
Tian, X.4
Brueckner, M.5
-
25
-
-
84867336373
-
Cilia at the node of mouse embryos sense fluid flow for leftright determination via Pkd2
-
Yoshiba, S. et al. Cilia at the node of mouse embryos sense fluid flow for leftright determination via Pkd2. Science 338, 226-231 (2012).
-
(2012)
Science
, vol.338
, pp. 226-231
-
-
Yoshiba, S.1
-
26
-
-
64949095478
-
The polycystic kidney disease-related proteins Bicc1 and SamCystin interact
-
Stagner, E. E., Bouvrette, D. J., Cheng, J. & Bryda, E. C. The polycystic kidney disease-related proteins Bicc1 and SamCystin interact. Biochem. Biophys. Res. Commun. 383, 16-21 (2009).
-
(2009)
Biochem. Biophys. Res. Commun.
, vol.383
, pp. 16-21
-
-
Stagner, E.E.1
Bouvrette, D.J.2
Cheng, J.3
Bryda, E.C.4
-
27
-
-
2642549143
-
Dynamics of centromere and kinetochore proteins; Implications for checkpoint signaling and silencing
-
Shah, J. V. et al. Dynamics of centromere and kinetochore proteins; implications for checkpoint signaling and silencing. Curr. Biol. 14, 942-952 (2004).
-
(2004)
Curr. Biol.
, vol.14
, pp. 942-952
-
-
Shah, J.V.1
-
28
-
-
19944426358
-
ENU induced mutations causing congenital cardiovascular anomalies
-
Yu, Q. et al. ENU induced mutations causing congenital cardiovascular anomalies. Development 131, 6211-6223 (2004).
-
(2004)
Development
, vol.131
, pp. 6211-6223
-
-
Yu, Q.1
-
29
-
-
84897019940
-
Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen
-
Liu, X. et al. Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen. Circ. Cardiovasc. Imaging 7, 31-42 (2014).
-
(2014)
Circ. Cardiovasc. Imaging
, vol.7
, pp. 31-42
-
-
Liu, X.1
-
30
-
-
84881530605
-
Ex vivo method for high resolution imaging of cilia motility in rodent airway epithelia
-
Francis, R. & Lo, C. Ex vivo method for high resolution imaging of cilia motility in rodent airway epithelia. J. Vis. Exp. doi:10. 3791/50343 (2013).
-
(2013)
J. Vis. Exp.
-
-
Francis, R.1
Lo, C.2
|