-
1
-
-
0036302105
-
Identification of microcephalin, a protein implicated in determining the size of the human brain
-
PMID:12046007; DOI:10.1086/341283
-
Jackson A.P., Eastwood H., Bell S.M., Adu J., Toomes C., Carr I.M., et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 2002; 71:136-42; PMID:12046007; DOI:10.1086/341283.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 136-142
-
-
Jackson, A.P.1
Eastwood, H.2
Bell, S.M.3
Adu, J.4
Toomes, C.5
Carr, I.M.6
-
2
-
-
17644399484
-
Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular and evolutionary findings
-
PMID:15806441; DOI:10.1086/429930
-
Woods C.G., Bond J., Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular and evolutionary findings. Am J Hum Genet 2005; 76:717-28; PMID:15806441; DOI:10.1086/429930.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 717-728
-
-
Woods, C.G.1
Bond, J.2
Enard, W.3
-
3
-
-
0036787796
-
ASPM is a major determinant of cerebral cortical size
-
PMID:12355089; DOI:10.1038/ng995
-
Bond J., Roberts E., Mochida G.H., Hampshire D.J., Scott S., Askham J.M., et al. ASPM is a major determinant of cerebral cortical size. Nat Genet 2002; 32:316-20; PMID:12355089; DOI:10.1038/ng995.
-
(2002)
Nat Genet
, vol.32
, pp. 316-320
-
-
Bond, J.1
Roberts, E.2
Mochida, G.H.3
Hampshire, D.J.4
Scott, S.5
Askham, J.M.6
-
4
-
-
1342285538
-
Human microcephaly
-
PMID:15018946; DOI:10.1016/j.conb.2004.01.003
-
Woods CG. Human microcephaly. Curr Opin Neurobiol 2004; 14:112-7; PMID:15018946; DOI:10.1016/j.conb.2004.01.003.
-
(2004)
Curr Opin Neurobiol
, vol.14
, pp. 112-117
-
-
Woods, C.G.1
-
5
-
-
62649118818
-
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly
-
PMID:19215732; DOI:10.1016/j.ajhg.2009.01.017
-
Kumar A., Girimaji S.C., Duvvari M.R., Blanton SH. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet 2009; 84:286-90; PMID:19215732; DOI:10.1016/j.ajhg.2009.01.017.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 286-290
-
-
Kumar, A.1
Girimaji, S.C.2
Duvvari, M.R.3
Blanton, S.H.4
-
6
-
-
0032231397
-
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
-
PMID:9683597; DOI:10.1086/301966
-
Jackson A.P., McHale D.P., Campbell D.A., Jafri H., Rashid Y., Mannan J., et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 1998; 63:541-6; PMID:9683597; DOI:10.1086/301966.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 541-546
-
-
Jackson, A.P.1
McHale, D.P.2
Campbell, D.A.3
Jafri, H.4
Rashid, Y.5
Mannan, J.6
-
7
-
-
0033659637
-
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32
-
PMID:11067780; DOI:10.1086/316909
-
Jamieson C.R., Fryns J.P., Jacobs J., Matthijs G., Abramowicz MJ. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 2000; 67:1575-7; PMID:11067780; DOI:10.1086/316909.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1575-1577
-
-
Jamieson, C.R.1
Fryns, J.P.2
Jacobs, J.3
Matthijs, G.4
Abramowicz, M.J.5
-
8
-
-
0032752596
-
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2
-
PMID:10573015; DOI:10.1038/ sj.ejhg.5200385
-
Roberts E., Jackson A.P., Carradice A.C., Deeble V.J., Mannan J., Rashid Y., et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 1999; 7:815-20; PMID:10573015; DOI:10.1038/ sj.ejhg.5200385.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 815-820
-
-
Roberts, E.1
Jackson, A.P.2
Carradice, A.C.3
Deeble, V.J.4
Mannan, J.5
Rashid, Y.6
-
9
-
-
18644367387
-
Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation
-
PMID:12362027; DOI:10.1136/jmg.39.10.718
-
Roberts E., Hampshire D.J., Pattison L., Springell K., Jafri H., Corry P., et al. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet 2002; 39:718-21; PMID:12362027; DOI:10.1136/jmg.39.10.718.
-
(2002)
J Med Genet
, vol.39
, pp. 718-721
-
-
Roberts, E.1
Hampshire, D.J.2
Pattison, L.3
Springell, K.4
Jafri, H.5
Corry, P.6
-
10
-
-
0033912946
-
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
-
PMID:10677332; DOI:10.1086/302777
-
Moynihan L., Jackson A.P., Roberts E., Karbani G., Lewis I., Corry P., et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 2000; 66:724-7; PMID:10677332; DOI:10.1086/302777.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 724-727
-
-
Moynihan, L.1
Jackson, A.P.2
Roberts, E.3
Karbani, G.4
Lewis, I.5
Corry, P.6
-
11
-
-
0033660432
-
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31
-
PMID:11078481; DOI:10.1086/316910
-
Pattison L., Crow Y.J., Deeble V.J., Jackson A.P., Jafri H., Rashid Y., et al. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 2000; 67:1578-80; PMID:11078481; DOI:10.1086/316910.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1578-1580
-
-
Pattison, L.1
Crow, Y.J.2
Deeble, V.J.3
Jackson, A.P.4
Jafri, H.5
Rashid, Y.6
-
12
-
-
0038163514
-
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
-
PMID:12843329; DOI:10.1136/jmg.40.7.540
-
Leal G.F., Roberts E., Silva E.O., Costa S.M., Hampshire D.J., Woods CG. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet 2003; 40:540-2; PMID:12843329; DOI:10.1136/jmg.40.7.540.
-
(2003)
J Med Genet
, vol.40
, pp. 540-542
-
-
Leal, G.F.1
Roberts, E.2
Silva, E.O.3
Costa, S.M.4
Hampshire, D.J.5
Woods, C.G.6
-
13
-
-
78049336070
-
WDR62 is associated with the spindle pole and is mutated in human Microcephaly
-
Nicholas A.K., Khurshid M., Désir J., Carvalho O.P., Cox J.J., Thornton G., et al. WDR62 is associated with the spindle pole and is mutated in human Microcephaly. Nat Genet 2010.
-
(2010)
Nat Genet
-
-
Nicholas, A.K.1
Khurshid, M.2
Désir, J.3
Carvalho, O.P.4
Cox, J.J.5
Thornton, G.6
-
14
-
-
77955068270
-
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4
-
PMID:20598275; DOI:10.1016/j.ajhg.2010.06.003
-
Guernsey D.L., Jiang H., Hussin J., Arnold M., Bouyakdan K., Perry S., et al. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet 2010; 87:40-51; PMID:20598275; DOI:10.1016/j.ajhg.2010.06.003.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 40-51
-
-
Guernsey, D.L.1
Jiang, H.2
Hussin, J.3
Arnold, M.4
Bouyakdan, K.5
Perry, S.6
-
15
-
-
20144386602
-
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
-
PMID:15793586; DOI:10.1038/ng1539
-
Bond J., Roberts E., Springell K., Lizarraga S.B., Scott S., Higgins J., et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 2005; 37:353-5; PMID:15793586; DOI:10.1038/ng1539.
-
(2005)
Nat Genet
, vol.37
, pp. 353-355
-
-
Bond, J.1
Roberts, E.2
Springell, K.3
Lizarraga, S.B.4
Scott, S.5
Higgins, J.6
-
16
-
-
25444514085
-
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein
-
PMID:15972725; DOI:10.1093/hmg/ddi220
-
Kouprina N., Pavlicek A., Collins N.K., Nakano M., Noskov V.N., Ohzeki J., et al. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet 2005; 14:2155-65; PMID:15972725; DOI:10.1093/hmg/ddi220.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2155-2165
-
-
Kouprina, N.1
Pavlicek, A.2
Collins, N.K.3
Nakano, M.4
Noskov, V.N.5
Ohzeki, J.6
-
17
-
-
25444493202
-
The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein
-
PMID:16123590; DOI:10.4161/cc.4.9.2029
-
Zhong X., Liu L., Zhao A., Pfeifer G.P., Xu X. The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein. Cell Cycle 2005; 4:1227-9; PMID:16123590; DOI:10.4161/cc.4.9.2029.
-
(2005)
Cell Cycle
, vol.4
, pp. 1227-1229
-
-
Zhong, X.1
Liu, L.2
Zhao, A.3
Pfeifer, G.P.4
Xu, X.5
-
18
-
-
33645229452
-
Microcephalin encodes a centrosomal protein
-
PMID:16479174; DOI:10.4161/cc.5.4.2481
-
Zhong X., Pfeifer G.P., Xu X. Microcephalin encodes a centrosomal protein. Cell Cycle 2006; 5:457-8; PMID:16479174; DOI:10.4161/cc.5.4.2481.
-
(2006)
Cell Cycle
, vol.5
, pp. 457-458
-
-
Zhong, X.1
Pfeifer, G.P.2
Xu, X.3
-
19
-
-
0033548590
-
Abnormal spindle protein, Asp and the integrity of mitotic centrosomal microtubule organizing centers
-
PMID:10073938; DOI:10.1126/science. 283.5408.1733
-
do Carmo Avides M., Glover DM. Abnormal spindle protein, Asp and the integrity of mitotic centrosomal microtubule organizing centers. Science 1999; 283:1733-5; PMID:10073938; DOI:10.1126/science. 283.5408.1733.
-
(1999)
Science
, vol.283
, pp. 1733-1735
-
-
Do Carmo Avides, M.1
Glover, D.M.2
-
20
-
-
0035858880
-
The drosophila protein asp is involved in microtubule organization during spindle formation and cytokinesis
-
PMID:11352927; DOI:10.1083/jcb.153.4.637
-
Wakefield J.G., Bonaccorsi S., Gatti M. The drosophila protein asp is involved in microtubule organization during spindle formation and cytokinesis. J Cell Biol 2001; 153:637-48; PMID:11352927; DOI:10.1083/jcb.153.4.637.
-
(2001)
J Cell Biol
, vol.153
, pp. 637-648
-
-
Wakefield, J.G.1
Bonaccorsi, S.2
Gatti, M.3
-
21
-
-
0032765262
-
The centrosomin protein is required for centrosome assembly and function during cleavage in Drosophila
-
PMID:10357928
-
Megraw T.L., Li K., Kao L.R., Kaufman T.C. The centrosomin protein is required for centrosome assembly and function during cleavage in Drosophila. Development 1999; 126:2829-2839; PMID:10357928.
-
(1999)
Development
, vol.126
, pp. 2829-2839
-
-
Megraw, T.L.1
Li, K.2
Kao, L.R.3
Kaufman, T.C.4
-
22
-
-
36248952558
-
The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo
-
PMID:17895362; DOI:10.1242/jcs.016626
-
Rickmyre J.L., Dasgupta S., Ooi D.L., Keel J., Lee E., Kirschner M.W., et al. The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo. J Cell Sci 2007; 120:3565-77; PMID:17895362; DOI:10.1242/jcs.016626.
-
(2007)
J Cell Sci
, vol.120
, pp. 3565-3577
-
-
Rickmyre, J.L.1
Dasgupta, S.2
Ooi, D.L.3
Keel, J.4
Lee, E.5
Kirschner, M.W.6
-
23
-
-
34547897627
-
The zebra fish cassiopeia mutant reveals that SIL is required for mitotic spindle organization
-
PMID:17576815; DOI:10.1128/MCB.00175-07
-
Pfaff K.L., Straub C.T., Chiang K., Bear D.M., Zhou Y., Zon LI. The zebra fish cassiopeia mutant reveals that SIL is required for mitotic spindle organization. Mol Cell Biol 2007; 27:5887-97; PMID:17576815; DOI:10.1128/MCB.00175-07.
-
(2007)
Mol Cell Biol
, vol.27
, pp. 5887-5897
-
-
Pfaff, K.L.1
Straub, C.T.2
Chiang, K.3
Bear, D.M.4
Zhou, Y.5
Zon, L.I.6
-
24
-
-
0036210178
-
Premature chromosome condensation in humans associated with microcephaly and mental retardation: A novel autosomal recessive condition
-
PMID:11857108; DOI:10.1086/339518
-
Neitzel H., Neumann L.M., Schindler D., Wirges A., Tonnies H., Trimborn M., et al. Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. Am J Hum Genet 2002; 70:1015-22; PMID:11857108; DOI:10.1086/339518.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1015-1022
-
-
Neitzel, H.1
Neumann, L.M.2
Schindler, D.3
Wirges, A.4
Tonnies, H.5
Trimborn, M.6
-
25
-
-
3242657086
-
Mutations in microcephalin cause aberrant regulation of chromosome condensation
-
PMID:15199523; DOI:10.1086/422855
-
Trimborn M., Bell S.M., Felix C., Rashid Y., Jafri H., Griffiths P.D., et al. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet 2004; 75:261-6; PMID:15199523; DOI:10.1086/422855.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 261-266
-
-
Trimborn, M.1
Bell, S.M.2
Felix, C.3
Rashid, Y.4
Jafri, H.5
Griffiths, P.D.6
-
26
-
-
4544269236
-
Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1
-
PMID:15220350; DOI:10.1074/jbc.C400139200
-
Xu X., Lee J., Stern DF. Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. J Biol Chem 2004; 279:34091-4; PMID:15220350; DOI:10.1074/jbc.C400139200.
-
(2004)
J Biol Chem
, vol.279
, pp. 34091-34094
-
-
Xu, X.1
Lee, J.2
Stern, D.F.3
-
27
-
-
33745763425
-
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling
-
PMID:16783362; DOI:10.1038/ncb1431
-
Alderton G.K., Galbiati L., Griffith E., Surinya K.H., Neitzel H., Jackson A.P., et al. Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nat Cell Biol 2006; 8:725-33; PMID:16783362; DOI:10.1038/ncb1431.
-
(2006)
Nat Cell Biol
, vol.8
, pp. 725-733
-
-
Alderton, G.K.1
Galbiati, L.2
Griffith, E.3
Surinya, K.H.4
Neitzel, H.5
Jackson, A.P.6
-
28
-
-
0037821661
-
Multiple tumor suppressor pathways negatively regulate telomerase
-
PMID:12837246; DOI:10.1016/S0092- 8674(03)00430-6
-
Lin S.Y., Elledge SJ. Multiple tumor suppressor pathways negatively regulate telomerase. Cell 2003; 113:881-9; PMID:12837246; DOI:10.1016/S0092- 8674(03)00430-6.
-
(2003)
Cell
, vol.113
, pp. 881-889
-
-
Lin, S.Y.1
Elledge, S.J.2
-
29
-
-
78650388490
-
MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest
-
PMID:21150325; DOI:10.4161/cc.9.24.14157
-
Gavvovidis I., Pöhlmann C., Marchal J.A., Stumm M., Yamashita D., Hirano T., et al. MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest. Cell Cycle 2010; 9:4893-9; PMID:21150325; DOI:10.4161/cc.9.24.14157.
-
(2010)
Cell Cycle
, vol.9
, pp. 4893-4899
-
-
Gavvovidis, I.1
Pöhlmann, C.2
Marchal, J.A.3
Stumm, M.4
Yamashita, D.5
Hirano, T.6
-
30
-
-
14644419063
-
Proteome analysis of the human mitotic spindle
-
PMID:15561729; DOI:10.1074/mcp.M400158-MCP200
-
Sauer G., Korner R., Hanisch A., Ries A., Nigg EA, SilljéHH. Proteome analysis of the human mitotic spindle. Mol Cell Proteomics 2005; 4:35-43; PMID:15561729; DOI:10.1074/mcp.M400158-MCP200.
-
(2005)
Mol Cell Proteomics
, vol.4
, pp. 35-43
-
-
Sauer, G.1
Korner, R.2
Hanisch, A.3
Ries, A.4
Nigg, E.A.5
Silljé, H.H.6
-
31
-
-
0346874342
-
Proteomic characterization of the human centrosome by protein correlation profiling
-
PMID:14654843; DOI:10.1038/nature02166
-
Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M., et al. Proteomic characterization of the human centrosome by protein correlation profiling. Nature 2003; 426:570-4; PMID:14654843; DOI:10.1038/nature02166.
-
(2003)
Nature
, vol.426
, pp. 570-574
-
-
Andersen, J.S.1
Wilkinson, C.J.2
Mayor, T.3
Mortensen, P.4
Nigg, E.A.5
Mann, M.6
-
32
-
-
77957555078
-
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
-
PMID:20802478; DOI:10.1038/ng.653
-
Krawitz P.M., Schweiger M.R., Rödelsperger C., Marcelis C., Kölsch U., Meisel C., et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010; 42:827-9; PMID:20802478; DOI:10.1038/ng.653.
-
(2010)
Nat Genet
, vol.42
, pp. 827-829
-
-
Krawitz, P.M.1
Schweiger, M.R.2
Rödelsperger, C.3
Marcelis, C.4
Kölsch, U.5
Meisel, C.6
-
33
-
-
30844470110
-
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype
-
PMID:16211557; DOI:10.1002/humu.9382
-
Trimborn M., Richter R., Sternberg N., Gavvovidis I., Schindler D., Jackson A.P., et al. The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat 2005; 26:496; PMID:16211557; DOI:10.1002/humu.9382.
-
(2005)
Hum Mutat
, vol.26
, pp. 496
-
-
Trimborn, M.1
Richter, R.2
Sternberg, N.3
Gavvovidis, I.4
Schindler, D.5
Jackson, A.P.6
-
34
-
-
15544389502
-
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome
-
PMID:15703196; DOI:10.1093/hmg/ddi075
-
Mann M.B., Hodges C.A., Barnes E., Vogel H., Hassold T.J., Luo G. Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. Hum Mol Genet 2005; 14:813-25; PMID:15703196; DOI:10.1093/hmg/ddi075.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 813-825
-
-
Mann, M.B.1
Hodges, C.A.2
Barnes, E.3
Vogel, H.4
Hassold, T.J.5
Luo, G.6
-
35
-
-
0035945340
-
CENP-A is phosphorylated by Aurora B kinase and plays an unexpected role in completion of cytokinesis
-
PMID:11756469; DOI:10.1083/ jcb.200108125
-
Zeitlin S.G., Shelby R.D., Sullivan KF. CENP-A is phosphorylated by Aurora B kinase and plays an unexpected role in completion of cytokinesis. J Cell Biol 2001; 155:1147-57; PMID:11756469; DOI:10.1083/ jcb.200108125.
-
(2001)
J Cell Biol
, vol.155
, pp. 1147-1157
-
-
Zeitlin, S.G.1
Shelby, R.D.2
Sullivan, K.F.3
-
36
-
-
50949106932
-
Runs of homozigosity in European populations
-
PMID:18760389; DOI:10.1016/j.ajhg.2008.08.007
-
McQuillan R., Leutenegger A.L., Abdel-Rahman R., Franklin C.S., Pericic M., Barac-Lauc L., et al. Runs of homozigosity in European populations. Am J Hum Genet 2008; 83:359-72; PMID:18760389; DOI:10.1016/j.ajhg.2008.08.007.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 359-372
-
-
McQuillan, R.1
Leutenegger, A.L.2
Abdel-Rahman, R.3
Franklin, C.S.4
Pericic, M.5
Barac-Lauc, L.6
-
37
-
-
65949102982
-
CDK5RAP2 is required for spindle checkpoint function
-
PMID:19282672; DOI:10.4161/cc.8.8.8205
-
Zhang X., Liu D., Lv S., Wang H., Zhong X., Liu B., et al. CDK5RAP2 is required for spindle checkpoint function. Cell Cycle 2009; 8:1206-16; PMID:19282672; DOI:10.4161/cc.8.8.8205.
-
(2009)
Cell Cycle
, vol.8
, pp. 1206-1216
-
-
Zhang, X.1
Liu, D.2
Lv, S.3
Wang, H.4
Zhong, X.5
Liu, B.6
-
38
-
-
0033854340
-
Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint
-
PMID:10877982; DOI:10.1086/303022
-
Matsuura S., Ito E., Tauchi H., Komatsu K., Ikeuchi T., Kajii T. Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint. Am J Hum Genet 2000; 67:483-6; PMID:10877982; DOI:10.1086/303022.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 483-486
-
-
Matsuura, S.1
Ito, E.2
Tauchi, H.3
Komatsu, K.4
Ikeuchi, T.5
Kajii, T.6
-
39
-
-
10644258336
-
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
-
PMID:15475955; DOI:10.1038/ng1449
-
Hanks S., Coleman K., Reid S., Plaja A., Firth H., Fitzpatrick D., et al. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet 2004; 36:1159-61; PMID:15475955; DOI:10.1038/ng1449.
-
(2004)
Nat Genet
, vol.36
, pp. 1159-1161
-
-
Hanks, S.1
Coleman, K.2
Reid, S.3
Plaja, A.4
Firth, H.5
Fitzpatrick, D.6
-
40
-
-
32444444090
-
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
-
PMID:16411201; DOI:10.1002/ajmg.a.31069
-
Matsuura S., Matsumoto Y., Morishima K., Izumi H., Matsumoto H., Ito E., et al. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. Am J Med Genet A 2006; 140:358-67; PMID:16411201; DOI:10.1002/ajmg.a.31069.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 358-367
-
-
Matsuura, S.1
Matsumoto, Y.2
Morishima, K.3
Izumi, H.4
Matsumoto, H.5
Ito, E.6
-
41
-
-
78651248502
-
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
-
PMID:21131973; DOI:10.1038/ng.725
-
Kalay E., Yigit G., Aslan Y., Brown D.E., Pohl E., Bicknell L.S., et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet 2011; 43:23-6; PMID:21131973; DOI:10.1038/ng.725.
-
(2011)
Nat Genet
, vol.43
, pp. 23-26
-
-
Kalay, E.1
Yigit, G.2
Aslan, Y.3
Brown, D.E.4
Pohl, E.5
Bicknell, L.S.6
-
42
-
-
27144518175
-
Chromosome nondisjunction yields tetraploid rather than aneuploid cells in human cell lines
-
PMID:16222248; DOI:10.1038/nature03958
-
Shi Q., King RW. Chromosome nondisjunction yields tetraploid rather than aneuploid cells in human cell lines. Nature 2005; 437:1038-42; PMID:16222248; DOI:10.1038/nature03958.
-
(2005)
Nature
, vol.437
, pp. 1038-1042
-
-
Shi, Q.1
King, R.W.2
-
43
-
-
51649121909
-
When 2 + 2 = 5: The origins and fates of aneuploid and tetraploid cells
-
King RW. When 2 + 2 = 5: the origins and fates of aneuploid and tetraploid cells. Biochim Biophys Acta 2008; 1786:4-14.
-
(2008)
Biochim Biophys Acta
, vol.1786
, pp. 4-14
-
-
King, R.W.1
-
44
-
-
0242551545
-
The cellular geography of aurora kinases
-
PMID:14625535; DOI:10.1038/nrm1245
-
Carmena M., Earnshaw WC. The cellular geography of aurora kinases. Nat Rev Mol Cell Biol 2003; 4:842-54; PMID:14625535; DOI:10.1038/nrm1245.
-
(2003)
Nat Rev Mol Cell Biol
, vol.4
, pp. 842-854
-
-
Carmena, M.1
Earnshaw, W.C.2
-
45
-
-
28844477653
-
Regulation of HP1-chromatin binding by histone H3 methylation and phosphorylation
-
PMID:16222246; DOI:10.1038/nature04219
-
Fischle W., Tseng B.S., Dormann H.L., Ueberheide B.M., Garcia B.A., Shabanowitz J., et al. Regulation of HP1-chromatin binding by histone H3 methylation and phosphorylation. Nature 2005; 438:1116-22; PMID:16222246; DOI:10.1038/nature04219.
-
(2005)
Nature
, vol.438
, pp. 1116-1122
-
-
Fischle, W.1
Tseng, B.S.2
Dormann, H.L.3
Ueberheide, B.M.4
Garcia, B.A.5
Shabanowitz, J.6
-
46
-
-
28844475262
-
Histone H3 serine 10 phosphorylation by Aurora B causes HP1 dissociation from heterochromatin
-
PMID:16222244; DOI:10.1038/nature04254
-
Hirota T., Lipp J.J., Toh B.H., Peters JM. Histone H3 serine 10 phosphorylation by Aurora B causes HP1 dissociation from heterochromatin. Nature 2005; 438:1176-80; PMID:16222244; DOI:10.1038/nature04254.
-
(2005)
Nature
, vol.438
, pp. 1176-1180
-
-
Hirota, T.1
Lipp, J.J.2
Toh, B.H.3
Peters, J.M.4
-
47
-
-
33745275629
-
The chromosomal passenger complex: Guiding Aurora B through mitosis
-
PMID:16769825; DOI:10.1083/jcb.200604032
-
Vader G., Medema R.H., Lens SM. The chromosomal passenger complex: guiding Aurora B through mitosis. J Cell Biol 2006; 173:833-7; PMID:16769825; DOI:10.1083/jcb.200604032.
-
(2006)
J Cell Biol
, vol.173
, pp. 833-837
-
-
Vader, G.1
Medema, R.H.2
Lens, S.M.3
-
48
-
-
12644270188
-
Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres
-
PMID:9382805; DOI:10.1016/S0960-9822(06)00382-4
-
Warburton P.E., Cooke C.A., Bourassa S., Vafa O., Sullivan B.A., Stetten G., et al. Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres. Curr Biol 1997; 7:901-4; PMID:9382805; DOI:10.1016/S0960-9822(06)00382-4.
-
(1997)
Curr Biol
, vol.7
, pp. 901-904
-
-
Warburton, P.E.1
Cooke, C.A.2
Bourassa, S.3
Vafa, O.4
Sullivan, B.A.5
Stetten, G.6
-
49
-
-
7744222944
-
Chromosomal passengers: The four-dimensional regulation of mitotic events
-
PMID:15351889; DOI:10.1007/s00412-004-0307-3
-
Vagnarelli P., Earnshaw WC. Chromosomal passengers: the four-dimensional regulation of mitotic events. Chromosoma 2004; 113:211-22; PMID:15351889; DOI:10.1007/s00412-004-0307-3.
-
(2004)
Chromosoma
, vol.113
, pp. 211-222
-
-
Vagnarelli, P.1
Earnshaw, W.C.2
-
50
-
-
33750616701
-
Chromosome segregation: Correcting improperly attached chromosomes
-
PMID:16950088; DOI:10.1016/j. cub.2006.08.008
-
Zhang X., Walczak CE. Chromosome segregation: correcting improperly attached chromosomes. Curr Biol 2006; 16:677-9; PMID:16950088; DOI:10.1016/j. cub.2006.08.008.
-
(2006)
Curr Biol
, vol.16
, pp. 677-679
-
-
Zhang, X.1
Walczak, C.E.2
-
51
-
-
33750612373
-
Aurora kinase promotes turnover of kinetochore microtubules to reduce chromosome segregation errors
-
PMID:16950108; DOI:10.1016/j. cub.2006.07.022
-
Cimini D., Wan X., Hirel C.B., Salmon ED. Aurora kinase promotes turnover of kinetochore microtubules to reduce chromosome segregation errors. Curr Biol 2006; 16:1711-8; PMID:16950108; DOI:10.1016/j. cub.2006.07.022.
-
(2006)
Curr Biol
, vol.16
, pp. 1711-1718
-
-
Cimini, D.1
Wan, X.2
Hirel, C.B.3
Salmon, E.D.4
-
52
-
-
17444373392
-
ALOHOMORA: A tool for linkage analysis using 10K SNP array data
-
PMID:15647291; DOI:10.1093/bioinformatics/bti264
-
Rüschendorf F., Nurnberg P. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 2005; 21:2123-5; PMID:15647291; DOI:10.1093/bioinformatics/bti264.
-
(2005)
Bioinformatics
, vol.21
, pp. 2123-2125
-
-
Rüschendorf, F.1
Nurnberg, P.2
-
53
-
-
19544389523
-
Mega2: Data-handling for facilitating genetic linkage and association analyses
-
PMID:15746282; DOI:10.1093/bioinformatics/bti364
-
Mukhopadhyay N., Almasy L., Schroeder M., Mulvihill W.P., Weeks DE. Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics 2005; 21:2556-7; PMID:15746282; DOI:10.1093/bioinformatics/ bti364.
-
(2005)
Bioinformatics
, vol.21
, pp. 2556-2557
-
-
Mukhopadhyay, N.1
Almasy, L.2
Schroeder, M.3
Mulvihill, W.P.4
Weeks, D.E.5
-
54
-
-
0036338150
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
-
PMID:11731797; DOI:10.1038/ng786
-
Abecasis G.R., Cherny S.S., Cookson W.O., Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30:97-101; PMID:11731797; DOI:10.1038/ng786.
-
(2002)
Nat Genet
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
55
-
-
0029945706
-
Descent graphs in pedigree analysis: Applications to haplotyping, location scores and marker-sharing statistics
-
PMID:8651310
-
Sobel E., Lange K. Descent graphs in pedigree analysis: Applications to haplotyping, location scores and marker-sharing statistics. Am J Hum Genet 1996; 58:1323-1337; PMID:8651310.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1323-1337
-
-
Sobel, E.1
Lange, K.2
-
56
-
-
17444390125
-
HaploPainter: A tool for drawing pedigrees with complex haplotypes
-
PMID:15377505; DOI:10.1093/bioinformatics/bth488
-
Thiele H., Nurnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 2005; 21:1730-2; PMID:15377505; DOI:10.1093/bioinformatics/bth488.
-
(2005)
Bioinformatics
, vol.21
, pp. 1730-1732
-
-
Thiele, H.1
Nurnberg, P.2
-
57
-
-
34547591343
-
Primer3Plus, an enhanced web interface to Primer3
-
PMID:17485472; DOI:10.1093/nar/gkm306
-
Untergasser A., Nijveen H., Rao X., Bisseling T., Geurts R., Leunissen J.A., et al. Primer3Plus, an enhanced web interface to Primer3. Nucleic Acids Res 2007; 35:71-4; PMID:17485472; DOI:10.1093/nar/gkm306.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 71-74
-
-
Untergasser, A.1
Nijveen, H.2
Rao, X.3
Bisseling, T.4
Geurts, R.5
Leunissen, J.A.6
-
58
-
-
67650064594
-
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
-
PMID:19498102; DOI:10.1101/gr.080531.108
-
Pruitt K.D., Harrow J., Harte R.A., Wallin C., Diekhans M., Maglott D.R., et al. The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res 2009; 19:1316-23; PMID:19498102; DOI:10.1101/gr.080531.108.
-
(2009)
Genome Res
, vol.19
, pp. 1316-1323
-
-
Pruitt, K.D.1
Harrow, J.2
Harte, R.A.3
Wallin, C.4
Diekhans, M.5
Maglott, D.R.6
-
59
-
-
77951770756
-
BEDTools: A flexible suite of utilities for comparing genomic features
-
PMID:20110278; DOI:10.1093/bioinformatics/ btq033
-
Quinlan A.R., Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 2010; 26:841-2; PMID:20110278; DOI:10.1093/bioinformatics/ btq033.
-
(2010)
Bioinformatics
, vol.26
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
60
-
-
68549104404
-
The sequence alignment/map format and samtools
-
PMID:19505943; DOI:10.1093/bioinformatics/btp352
-
Li H., Handsaker B., Wysoker A., Fennell T., Ruan J., Homer N., et al. The sequence alignment/map format and samtools. Bioinformatics 2009; 25:2078-9; PMID:19505943; DOI:10.1093/bioinformatics/btp352.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
-
61
-
-
77951939888
-
Microindel detection in shortread sequence data
-
PMID:20144947; DOI:10.1093/bioinformatics/ btq027
-
Krawitz P., Rodelsperger C., Jager M., Jostins L., Bauer S., Robinson PN. Microindel detection in shortread sequence data. Bioinformatics 2010; 26:722- 9; PMID:20144947; DOI:10.1093/bioinformatics/ btq027.
-
(2010)
Bioinformatics
, vol.26
, pp. 722-729
-
-
Krawitz, P.1
Rodelsperger, C.2
Jager, M.3
Jostins, L.4
Bauer, S.5
Robinson, P.N.6
-
62
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
PMID:20676075; DOI:10.1038/nmeth0810-575
-
Schwarz J.M., Roedelsperger C., Schuelke M., Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7:575-6; PMID:20676075; DOI:10.1038/nmeth0810-575.
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Roedelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
63
-
-
0028226223
-
Simultaneous detection of X-chromosome loss and non-disjunction in cytokinesis-blocked human lymphocytes by in situ hybridization with a centromeric DNA probe; implications for the human lymphocyte in vitro micronucleus assay using cytochalasin B
-
PMID:7934962; DOI:10.1093/mutage/9.3.225
-
Zijno A., Marcon F., Leopardi P., Crebelli R. Simultaneous detection of X-chromosome loss and non-disjunction in cytokinesis-blocked human lymphocytes by in situ hybridization with a centromeric DNA probe; implications for the human lymphocyte in vitro micronucleus assay using cytochalasin B. Mutagenesis 1994; 9:225-32; PMID:7934962; DOI:10.1093/mutage/9.3.225.
-
(1994)
Mutagenesis
, vol.9
, pp. 225-232
-
-
Zijno, A.1
Marcon, F.2
Leopardi, P.3
Crebelli, R.4
-
64
-
-
0033577737
-
Griseofulvin-induced aneuploidy and meiotic delay in male mouse germ cells: Detected by using conventional cytogenetics and three-color FISH
-
PMID:10333532
-
Shi Q., Schmid T.E., Adler I. Griseofulvin-induced aneuploidy and meiotic delay in male mouse germ cells: Detected by using conventional cytogenetics and three-color FISH. Mutat Res 1999; 441:181-190; PMID:10333532.
-
(1999)
Mutat Res
, vol.441
, pp. 181-190
-
-
Shi, Q.1
Schmid, T.E.2
Adler, I.3
-
65
-
-
32244446843
-
Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II
-
PMID:16434882; DOI:10.4161/cc.5.3.2412
-
Trimborn M., Schindler D., Neitzel H., Hirano T. Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. Cell Cycle 2006; 5:322-6; PMID:16434882; DOI:10.4161/cc.5.3.2412.
-
(2006)
Cell Cycle
, vol.5
, pp. 322-326
-
-
Trimborn, M.1
Schindler, D.2
Neitzel, H.3
Hirano, T.4
-
66
-
-
0037415605
-
Rae1 is an essential mitotic checkpoint regulator that cooperates with Bub3 to prevent chromosome missegregation
-
PMID:12551952; DOI:10.1083/jcb.200211048
-
Babu J.R., Jeganathan K.B., Baker D.J., Wu X., Kang-Decker N., Van Deursen JM. Rae1 is an essential mitotic checkpoint regulator that cooperates with Bub3 to prevent chromosome missegregation. J Cell Biol 2003; 160:341-53; PMID:12551952; DOI:10.1083/jcb.200211048.
-
(2003)
J Cell Biol
, vol.160
, pp. 341-353
-
-
Babu, J.R.1
Jeganathan, K.B.2
Baker, D.J.3
Wu, X.4
Kang-Decker, N.5
Van Deursen, J.M.6
|