-
1
-
-
0029990045
-
Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature
-
Robin NH, Opitz JM, Muenke M (1996) Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet 62(3-305-317.
-
(1996)
Am J Med Genet
, vol.62
, Issue.3
, pp. 305-317
-
-
Robin, N.H.1
Opitz, J.M.2
Muenke, M.3
-
2
-
-
16944365777
-
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
-
Quaderi NA, et al. (1997) Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 17(3-285-291.
-
(1997)
Nat Genet
, vol.17
, Issue.3
, pp. 285-291
-
-
Quaderi, N.A.1
-
3
-
-
79952455073
-
Detection and characterization of the in vitro e3 ligase activity of the human MID1 protein
-
Han X, Du H, Massiah MA (2011) Detection and characterization of the in vitro e3 ligase activity of the human MID1 protein. J Mol Biol 407(4-505-520.
-
(2011)
J Mol Biol
, vol.407
, Issue.4
, pp. 505-520
-
-
Han, X.1
Du, H.2
Massiah, M.A.3
-
4
-
-
6844261193
-
The mouse Mid1 gene: Implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region
-
Dal Zotto L, et al. (1998) The mouse Mid1 gene: Implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet 7(3-489-499.
-
(1998)
Hum Mol Genet
, vol.7
, Issue.3
, pp. 489-499
-
-
Dal Zotto, L.1
-
5
-
-
2342516034
-
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
-
Pinson L, et al. (2004) Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet 41(5-381-386.
-
(2004)
J Med Genet
, vol.41
, Issue.5
, pp. 381-386
-
-
Pinson, L.1
-
6
-
-
13044280808
-
The Opitz syndrome gene product, MID1, associates with microtubules
-
Schweiger S, et al. (1999) The Opitz syndrome gene product, MID1, associates with microtubules. Proc Natl Acad Sci USA 96(6-2794-2799.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, Issue.6
, pp. 2794-2799
-
-
Schweiger, S.1
-
7
-
-
0032854670
-
Functional characterization of the Opitz syndrome gene product (midin- Evidence for homodimerization and association with microtubules throughout the cell cycle
-
Cainarca S, Messali S, Ballabio A, Meroni G (1999) Functional characterization of the Opitz syndrome gene product (midin- Evidence for homodimerization and association with microtubules throughout the cell cycle. Hum Mol Genet 8(8-1387-1396.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.8
, pp. 1387-1396
-
-
Cainarca, S.1
Messali, S.2
Ballabio, A.3
Meroni, G.4
-
8
-
-
0032231338
-
Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain
-
Gaudenz K, et al. (1998) Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet 63(3-703-710.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.3
, pp. 703-710
-
-
Gaudenz, K.1
-
9
-
-
77955937626
-
The tripartite motif protein MADD-2 functions with the receptor UNC-40 (DCC) in Netrin-mediated axon attraction and branching
-
Hao JC, et al. (2010) The tripartite motif protein MADD-2 functions with the receptor UNC-40 (DCC) in Netrin-mediated axon attraction and branching. Dev Cell 18(6- 950-960.
-
(2010)
Dev Cell
, vol.18
, Issue.6
, pp. 950-960
-
-
Hao, J.C.1
-
10
-
-
77955933672
-
MADD-2, a homolog of the Opitz syndrome protein MID1, regulates guidance to the midline through UNC-40 in Caenorhabditis elegans
-
Alexander M, et al. (2010) MADD-2, a homolog of the Opitz syndrome protein MID1, regulates guidance to the midline through UNC-40 in Caenorhabditis elegans. Dev Cell 18(6-961-972.
-
(2010)
Dev Cell
, vol.18
, Issue.6
, pp. 961-972
-
-
Alexander, M.1
-
11
-
-
77954649559
-
MID1 and MID2 are required for Xenopus neural tube closure through the regulation of microtubule organization
-
Suzuki M, Hara Y, Takagi C, Yamamoto TS, Ueno N (2010) MID1 and MID2 are required for Xenopus neural tube closure through the regulation of microtubule organization. Development 137(14-2329-2339.
-
(2010)
Development
, vol.137
, Issue.14
, pp. 2329-2339
-
-
Suzuki, M.1
Hara, Y.2
Takagi, C.3
Yamamoto, T.S.4
Ueno, N.5
-
12
-
-
0038545491
-
The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node
-
Granata A, Quaderi NA (2003) The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node. Dev Biol 258(2- 397-405.
-
(2003)
Dev Biol
, vol.258
, Issue.2
, pp. 397-405
-
-
Granata, A.1
Quaderi, N.A.2
-
13
-
-
0035184651
-
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation
-
Trockenbacher A, et al. (2001) MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet 29(3- 287-294.
-
(2001)
Nat Genet
, vol.29
, Issue.3
, pp. 287-294
-
-
Trockenbacher, A.1
-
14
-
-
2342654045
-
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: Implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders
-
Short KM, Hopwood B, Yi Z, Cox TC (2002) MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: Implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. BMC Cell Biol 3:1.
-
(2002)
BMC Cell Biol
, vol.3
, pp. 1
-
-
Short, K.M.1
Hopwood, B.2
Yi, Z.3
Cox, T.C.4
-
15
-
-
2342556426
-
Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules
-
Berti C, Fontanella B, Ferrentino R, Meroni G (2004) Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules. BMC Cell Biol 5:9.
-
(2004)
BMC Cell Biol
, vol.5
, pp. 9
-
-
Berti, C.1
Fontanella, B.2
Ferrentino, R.3
Meroni, G.4
-
16
-
-
84873569230
-
The E3 ubiquitin ligase midline 1 promotes allergen and rhinovirus-induced asthma by inhibiting protein phosphatase 2A activity
-
Collison A, et al. (2013) The E3 ubiquitin ligase midline 1 promotes allergen and rhinovirus-induced asthma by inhibiting protein phosphatase 2A activity. Nat Med 19(2-232-237.
-
(2013)
Nat Med
, vol.19
, Issue.2
, pp. 232-237
-
-
Collison, A.1
-
17
-
-
84874607780
-
Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex
-
Krauss S, et al. (2013) Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex. Nat Commun 4:1511.
-
(2013)
Nat Commun
, vol.4
, pp. 1511
-
-
Krauss, S.1
-
18
-
-
0034641894
-
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
-
Cox TC, et al. (2000) New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet 9(17-2553-2562.
-
(2000)
Hum Mol Genet
, vol.9
, Issue.17
, pp. 2553-2562
-
-
Cox, T.C.1
-
19
-
-
35448976797
-
Activity-dependent development of callosal projections in the somatosensory cortex
-
Wang CL, et al. (2007) Activity-dependent development of callosal projections in the somatosensory cortex. J Neurosci 27(42-11334-11342.
-
(2007)
J Neurosci
, vol.27
, Issue.42
, pp. 11334-11342
-
-
Wang, C.L.1
-
20
-
-
0028219210
-
Turning of nerve growth cones induced by neurotransmitters
-
Zheng JQ, Felder M, Connor JA, Poo MM (1994) Turning of nerve growth cones induced by neurotransmitters. Nature 368(6467-140-144.
-
(1994)
Nature
, vol.368
, Issue.6467
, pp. 140-144
-
-
Zheng, J.Q.1
Felder, M.2
Connor, J.A.3
Poo, M.M.4
-
21
-
-
0035811068
-
Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4
-
Liu J, Prickett TD, Elliott E, Meroni G, Brautigan DL (2001) Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. Proc Natl Acad Sci USA 98(12-6650-6655.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, Issue.12
, pp. 6650-6655
-
-
Liu, J.1
Prickett, T.D.2
Elliott, E.3
Meroni, G.4
Brautigan, D.L.5
-
22
-
-
77949393847
-
Protein phosphatase 2A facilitates axonogenesis by dephosphorylating CRMP2
-
Zhu LQ, et al. (2010) Protein phosphatase 2A facilitates axonogenesis by dephosphorylating CRMP2. J Neurosci 30(10-3839-3848.
-
(2010)
J Neurosci
, vol.30
, Issue.10
, pp. 3839-3848
-
-
Zhu, L.Q.1
-
23
-
-
77952220270
-
Protein phosphatase 2A cooperates with the autophagy-related kinase UNC-51 to regulate axon guidance in Caenorhabditis elegans
-
Ogura K, et al. (2010) Protein phosphatase 2A cooperates with the autophagy-related kinase UNC-51 to regulate axon guidance in Caenorhabditis elegans. Development 137(10-1657-1667.
-
(2010)
Development
, vol.137
, Issue.10
, pp. 1657-1667
-
-
Ogura, K.1
-
24
-
-
0035184850
-
A short pseudoautosomal region in laboratory mice
-
Perry J, Palmer S, Gabriel A, Ashworth A (2001) A short pseudoautosomal region in laboratory mice. Genome Res 11(11-1826-1832.
-
(2001)
Genome Res
, vol.11
, Issue.11
, pp. 1826-1832
-
-
Perry, J.1
Palmer, S.2
Gabriel, A.3
Ashworth, A.4
-
25
-
-
42949106450
-
MID1 mutations in patients with X-linked Opitz G/BBB syndrome
-
Fontanella B, Russolillo G, Meroni G (2008) MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Hum Mutat 29(5-584-594.
-
(2008)
Hum Mutat
, vol.29
, Issue.5
, pp. 584-594
-
-
Fontanella, B.1
Russolillo, G.2
Meroni, G.3
-
26
-
-
0028816964
-
Principles of human brain organization derived from split-brain studies
-
Gazzaniga MS (1995) Principles of human brain organization derived from split-brain studies. Neuron 14(2-217-228.
-
(1995)
Neuron
, vol.14
, Issue.2
, pp. 217-228
-
-
Gazzaniga, M.S.1
-
27
-
-
84862669298
-
Fibroblast growth factor 13 is a microtubule-stabilizing protein regulating neuronal polarization and migration
-
Wu QF, et al. (2012) Fibroblast growth factor 13 is a microtubule-stabilizing protein regulating neuronal polarization and migration. Cell 149(7-1549-1564.
-
(2012)
Cell
, vol.149
, Issue.7
, pp. 1549-1564
-
-
Wu, Q.F.1
-
28
-
-
77649083648
-
Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis
-
Lancioni A, et al. (2010) Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. J Neurosci 30(8-2880-2887.
-
(2010)
J Neurosci
, vol.30
, Issue.8
, pp. 2880-2887
-
-
Lancioni, A.1
-
29
-
-
0032837540
-
MID2, a homologue of the Opitz syndrome gene MID1: Similarities in subcellular localization and differences in expression during development
-
Buchner G, et al. (1999) MID2, a homologue of the Opitz syndrome gene MID1: Similarities in subcellular localization and differences in expression during development. Hum Mol Genet 8(8-1397-1407.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.8
, pp. 1397-1407
-
-
Buchner, G.1
-
30
-
-
0033572528
-
FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules
-
Perry J, et al. (1999) FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules. Genomics 62(3-385-394.
-
(1999)
Genomics
, vol.62
, Issue.3
, pp. 385-394
-
-
Perry, J.1
-
31
-
-
11144337739
-
Evidence of functional redundancy between MID proteins: Implications for the presentation of Opitz syndrome
-
Granata A, et al. (2005) Evidence of functional redundancy between MID proteins: Implications for the presentation of Opitz syndrome. Dev Biol 277(2-417-424.
-
(2005)
Dev Biol
, vol.277
, Issue.2
, pp. 417-424
-
-
Granata, A.1
-
32
-
-
73649114969
-
Molecular layers underlying cytoskeletal remodelling during cortical development
-
Heng JI, Chariot A, Nguyen L (2010) Molecular layers underlying cytoskeletal remodelling during cortical development. Trends Neurosci 33(1-38-47.
-
(2010)
Trends Neurosci
, vol.33
, Issue.1
, pp. 38-47
-
-
Heng, J.I.1
Chariot, A.2
Nguyen, L.3
-
33
-
-
0344522713
-
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
-
OPD-Spectrum Disorders Clinical Collaborative Group
-
Robertson SP, et al.; OPD-Spectrum Disorders Clinical Collaborative Group (2003) Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33(4-487-491.
-
(2003)
Nat Genet
, vol.33
, Issue.4
, pp. 487-491
-
-
Robertson, S.P.1
-
34
-
-
0028216212
-
Regulation of microtubule dynamics by microtubule-associated protein expression and phosphorylation during neuronal development
-
Avila J, Domínguez J, Díaz-Nido J (1994) Regulation of microtubule dynamics by microtubule-associated protein expression and phosphorylation during neuronal development. Int J Dev Biol 38(1-13-25.
-
(1994)
Int J Dev Biol
, vol.38
, Issue.1
, pp. 13-25
-
-
Avila, J.1
Domínguez, J.2
Díaz-Nido, J.3
-
35
-
-
79957722643
-
Control of mTORC1 signaling by the Opitz syndrome protein MID1
-
Liu E, Knutzen CA, Krauss S, Schweiger S, Chiang GG (2011) Control of mTORC1 signaling by the Opitz syndrome protein MID1. Proc Natl Acad Sci USA 108(21-8680-8685.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, Issue.21
, pp. 8680-8685
-
-
Liu, E.1
Knutzen, C.A.2
Krauss, S.3
Schweiger, S.4
Chiang, G.G.5
|