-
1
-
-
0345073699
-
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
-
O'Driscoll, M., Ruiz-Perez, V.L., Woods, C.G., Jeggo, P.A. and Goodship, J.A. (2003) A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat. Genet., 33, 497-501.
-
(2003)
Nat. Genet.
, vol.33
, pp. 497-501
-
-
O'Driscoll, M.1
Ruiz-Perez, V.L.2
Woods, C.G.3
Jeggo, P.A.4
Goodship, J.A.5
-
2
-
-
0142154314
-
ATM ATR and DNA-PK: initiators of the cellular genotoxic stress responses
-
Yang, J., Yu, Y., Hamrick, H.E. and Duerksen-Hughes, P.J. (2003) ATM, ATR and DNA-PK: initiators of the cellular genotoxic stress responses. Carcinogenesis, 24, 1571-1580.
-
(2003)
Carcinogenesis
, vol.24
, pp. 1571-1580
-
-
Yang, J.1
Yu, Y.2
Hamrick, H.E.3
Duerksen-Hughes, P.J.4
-
3
-
-
34250195047
-
DNA damage-induced signalling in ataxia-telangiectasia and related syndromes
-
Lavin, M.F. and Kozlov, S. (2007) DNA damage-induced signalling in ataxia-telangiectasia and related syndromes. Radiother. Oncol., 83, 231- 237.
-
(2007)
Radiother. Oncol.
, vol.83
, pp. 231-237
-
-
Lavin, M.F.1
Kozlov, S.2
-
4
-
-
47749141560
-
ATR: an essential regulator of genome integrity
-
Cimprich, K.A. and Cortez, D. (2008) ATR: an essential regulator of genome integrity. Nat. Rev. Mol. Cell. Biol., 9, 616-627.
-
(2008)
Nat. Rev. Mol. Cell. Biol.
, vol.9
, pp. 616-627
-
-
Cimprich, K.A.1
Cortez, D.2
-
5
-
-
70349852751
-
Mouse models for ATR deficiency
-
O'Driscoll, M. (2009) Mouse models for ATR deficiency. DNA Repair (Amst)., 8, 1333-1337.
-
(2009)
DNA Repair (Amst)
, vol.8
, pp. 1333-1337
-
-
O'Driscoll, M.1
-
6
-
-
0034815910
-
Ocular manifestations of Seckel syndrome
-
Guirgis, M.F., Lam, B.L. and Howard, C.W. (2001) Ocular manifestations of Seckel syndrome. Am. J. Ophthalmol., 132, 596-597.
-
(2001)
Am. J. Ophthalmol.
, vol.132
, pp. 596-597
-
-
Guirgis, M.F.1
Lam, B.L.2
Howard, C.W.3
-
7
-
-
0141763698
-
Retinal features in Seckel's syndrome
-
Erdol, H., Aynaci, M., Elmas, R., Arslan, Y. and Imamoglu, H.I. (2003) Retinal features in Seckel's syndrome. J. Pediatr. Ophthalmol. Strabismus., 40, 299-301.
-
(2003)
J. Pediatr. Ophthalmol. Strabismus.
, vol.40
, pp. 299-301
-
-
Erdol, H.1
Aynaci, M.2
Elmas, R.3
Arslan, Y.4
Imamoglu, H.I.5
-
8
-
-
68149161607
-
A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging
-
Murga, M., Bunting, S., Montana, M.F., Soria, R., Mulero, F., Canamero, M., Lee, Y., McKinnon, P.J., Nussenzweig, A. and Fernandez-Capetillo, O. (2009) A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging. Nat. Genet., 41, 891-898.
-
(2009)
Nat. Genet.
, vol.41
, pp. 891-898
-
-
Murga, M.1
Bunting, S.2
Montana, M.F.3
Soria, R.4
Mulero, F.5
Canamero, M.6
Lee, Y.7
McKinnon, P.J.8
Nussenzweig, A.9
Fernandez-Capetillo, O.10
-
9
-
-
0034724168
-
A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
-
Hong, D.H., Pawlyk, B.S., Shang, J., Sandberg, M.A., Berson, E.L. and Li, T. (2000) A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc. Natl Acad. Sci. USA, 97, 3649-3654.
-
(2000)
Proc. Natl Acad. Sci. USA
, vol.97
, pp. 3649-3654
-
-
Hong, D.H.1
Pawlyk, B.S.2
Shang, J.3
Sandberg, M.A.4
Berson, E.L.5
Li, T.6
-
10
-
-
0141542568
-
RP1 is required for the correct stacking of outer segment discs
-
Liu, Q., Lyubarsky, A., Skalet, J.H., Pugh, E.N. Jr. and Pierce, E.A. (2003) RP1 is required for the correct stacking of outer segment discs. Invest. Ophthalmol. Vis. Sci., 44, 4171-4183.
-
(2003)
Invest. Ophthalmol. Vis. Sci.
, vol.44
, pp. 4171-4183
-
-
Liu, Q.1
Lyubarsky, A.2
Skalet, J.H.3
Pugh Jr, E.N.4
Pierce, E.A.5
-
11
-
-
2942625562
-
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
-
Mykytyn, K., Mullins, R.F., Andrews, M., Chiang, A.P., Swiderski, R.E., Yang, B., Braun, T., Casavant, T., Stone, E.M. and Sheffield, V.C. (2004) Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc. Natl Acad. Sci. USA, 101, 8664-8669.
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 8664-8669
-
-
Mykytyn, K.1
Mullins, R.F.2
Andrews, M.3
Chiang, A.P.4
Swiderski, R.E.5
Yang, B.6
Braun, T.7
Casavant, T.8
Stone, E.M.9
Sheffield, V.C.10
-
12
-
-
70350324640
-
Emerging common themes in regulation of PIKKs and PI3Ks
-
Lempiainen, H. and Halazonetis, T.D. (2009) Emerging common themes in regulation of PIKKs and PI3Ks. EMBO J., 28, 3067-3073.
-
(2009)
EMBO J
, vol.28
, pp. 3067-3073
-
-
Lempiainen, H.1
Halazonetis, T.D.2
-
13
-
-
33845715977
-
ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling
-
Stiff, T., Walker, S.A., Cerosaletti, K., Goodarzi, A.A., Petermann, E., Concannon, P., O'Driscoll, M. and Jeggo, P.A. (2006) ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling. EMBO J., 25, 5775-5782.
-
(2006)
EMBO J
, vol.25
, pp. 5775-5782
-
-
Stiff, T.1
Walker, S.A.2
Cerosaletti, K.3
Goodarzi, A.A.4
Petermann, E.5
Concannon, P.6
O'Driscoll, M.7
Jeggo, P.A.8
-
14
-
-
15844426692
-
Atm-deficient mice: a paradigm of ataxia telangiectasia
-
Barlow, C., Hirotsune, S., Paylor, R., Liyanage, M., Eckhaus,M., Collins, F., Shiloh, Y., Crawley, J.N., Ried, T., Tagle, D. et al. (1996) Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell, 86, 159-171.
-
(1996)
Cell
, vol.86
, pp. 159-171
-
-
Barlow, C.1
Hirotsune, S.2
Paylor, R.3
Liyanage, M.4
Eckhaus, M.5
Collins, F.6
Shiloh, Y.7
Crawley, J.N.8
Ried, T.9
Tagle, D.10
-
15
-
-
80052847814
-
A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia
-
Raz-Prag, D., Galron, R., Segev-Amzaleg, N., Solomon, A.S., Shiloh, Y., Barzilai, A. and Frenkel, D. (2011) A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia. Am. J. Pathol., 179, 1533-1541.
-
(2011)
Am. J. Pathol.
, vol.179
, pp. 1533-1541
-
-
Raz-Prag, D.1
Galron, R.2
Segev-Amzaleg, N.3
Solomon, A.S.4
Shiloh, Y.5
Barzilai, A.6
Frenkel, D.7
-
16
-
-
53149095822
-
ATM gene variants in patients with idiopathic perifoveal telangiectasia
-
Barbazetto, I.A., Room, M., Yannuzzi, N.A., Barile, G.R., Merriam, J.E., Bardal, A.M., Freund, K.B., Yannuzzi, L.A. and Allikmets, R. (2008) ATM gene variants in patients with idiopathic perifoveal telangiectasia. Invest. Ophthalmol. Vis. Sci., 49, 3806-3811.
-
(2008)
Invest. Ophthalmol. Vis. Sci.
, vol.49
, pp. 3806-3811
-
-
Barbazetto, I.A.1
Room, M.2
Yannuzzi, N.A.3
Barile, G.R.4
Merriam, J.E.5
Bardal, A.M.6
Freund, K.B.7
Yannuzzi, L.A.8
Allikmets, R.9
-
17
-
-
46749083885
-
The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors
-
Krock, B.L. and Perkins, B.D. (2008) The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors. J. Cell Sci., 121, 1907-1915.
-
(2008)
J. Cell Sci.
, vol.121
, pp. 1907-1915
-
-
Krock, B.L.1
Perkins, B.D.2
-
18
-
-
77956985453
-
The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders
-
Bramall, A.N., Wright, A.F., Jacobson, S.G. and McInnes, R.R. (2010) The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders. Annu. Rev. Neurosci., 33, 441-472.
-
(2010)
Annu. Rev. Neurosci.
, vol.33
, pp. 441-472
-
-
Bramall, A.N.1
Wright, A.F.2
Jacobson, S.G.3
McInnes, R.R.4
-
19
-
-
79955138852
-
-
Hildebrandt, F., Benzing, T. and Katsanis, N. (2011) Ciliopathies. N. Engl. J. Med., 364, 1533-1543.
-
(2011)
Ciliopathies. N. Engl. J. Med.
, vol.364
, pp. 1533-1543
-
-
Hildebrandt, F.1
Benzing, T.2
Katsanis, N.3
-
20
-
-
38649092988
-
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
-
Griffith, E., Walker, S., Martin, C.A., Vagnarelli, P., Stiff, T., Vernay, B., Al Sanna, N., Saggar, A., Hamel, B., Earnshaw, W.C. et al. (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat. Genet., 40, 232-236.
-
(2008)
Nat. Genet.
, vol.40
, pp. 232-236
-
-
Griffith, E.1
Walker, S.2
Martin, C.A.3
Vagnarelli, P.4
Stiff, T.5
Vernay, B.6
Al Sanna, N.7
Saggar, A.8
Hamel, B.9
Earnshaw, W.C.10
-
21
-
-
80054837002
-
The centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptors
-
Muhlhans, J., Brandstatter, J.H. and Giessl, A. (2011) The centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptors. PLoS One, 6, e26496.
-
(2011)
PLoS One
, vol.6
-
-
Muhlhans, J.1
Brandstatter, J.H.2
Giessl, A.3
-
22
-
-
34247875990
-
Centrosomal localization of DNA damage checkpoint proteins
-
Zhang, S., Hemmerich, P. and Grosse, F. (2007) Centrosomal localization of DNA damage checkpoint proteins. J. Cell Biochem., 101, 451-465.
-
(2007)
J. Cell Biochem.
, vol.101
, pp. 451-465
-
-
Zhang, S.1
Hemmerich, P.2
Grosse, F.3
-
23
-
-
34250891981
-
The primary cilium: keeper of the key to cell division
-
Pan, J. and Snell, W. (2007) The primary cilium: keeper of the key to cell division. Cell, 129, 1255-1257.
-
(2007)
Cell
, vol.129
, pp. 1255-1257
-
-
Pan, J.1
Snell, W.2
-
24
-
-
34249947699
-
ATMand ATR substrate analysis reveals extensive protein networks responsive to DNA damage
-
Matsuoka, S., Ballif, B.A., Smogorzewska, A., McDonald, E.R. 3rd, Hurov, K.E., Luo, J., Bakalarski, C.E., Zhao, Z., Solimini, N., Lerenthal, Y. et al. (2007)ATMand ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science, 316, 1160-1166.
-
(2007)
Science
, vol.316
, pp. 1160-1166
-
-
Matsuoka, S.1
Ballif, B.A.2
Smogorzewska, A.3
McDonald III, E.R.4
Hurov, K.E.5
Luo, J.6
Bakalarski, C.E.7
Zhao, Z.8
Solimini, N.9
Lerenthal, Y.10
-
25
-
-
0024202731
-
Microtubule-associated proteins characteristic of embryonic brain are found in the adult mammalian retina
-
Tucker, R.P. and Matus, A.I. (1988) Microtubule-associated proteins characteristic of embryonic brain are found in the adult mammalian retina. Dev. Biol., 130, 423-434.
-
(1988)
Dev. Biol.
, vol.130
, pp. 423-434
-
-
Tucker, R.P.1
Matus, A.I.2
-
26
-
-
19744382953
-
The MAP2/Tau family of microtubule-associated proteins
-
Dehmelt, L. and Halpain, S. (2005) The MAP2/Tau family of microtubule-associated proteins. Genome Biol., 6, 204.
-
(2005)
Genome Biol
, vol.6
, pp. 204
-
-
Dehmelt, L.1
Halpain, S.2
-
27
-
-
34247277247
-
Analysis of the weak interactions of ADP-Unc104 and ADP-kinesin with microtubules and their inhibition by MAP2c
-
Al-Bassam, J., Roger, B., Halpain, S. and Milligan, R.A. (2007) Analysis of the weak interactions of ADP-Unc104 and ADP-kinesin with microtubules and their inhibition by MAP2c. Cell Motil. Cytoskeleton, 64, 377-389.
-
(2007)
Cell Motil. Cytoskeleton
, vol.64
, pp. 377-389
-
-
Al-Bassam, J.1
Roger, B.2
Halpain, S.3
Milligan, R.A.4
-
28
-
-
78651098722
-
Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival
-
Omori, Y., Chaya, T., Katoh, K., Kajimura, N., Sato, S., Muraoka, K., Ueno, S., Koyasu, T., Kondo, M. and Furukawa, T. (2010) Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc. Natl Acad. Sci. USA, 107, 22671-22676.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 22671-22676
-
-
Omori, Y.1
Chaya, T.2
Katoh, K.3
Kajimura, N.4
Sato, S.5
Muraoka, K.6
Ueno, S.7
Koyasu, T.8
Kondo, M.9
Furukawa, T.10
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