-
1
-
-
84893784627
-
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1
-
Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, de Leeuw N, Qamar R, van Bokhoven H. 2014. A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. Gene 538:30-35.
-
(2014)
Gene
, vol.538
, pp. 30-35
-
-
Agha, Z.1
Iqbal, Z.2
Azam, M.3
Siddique, M.4
Willemsen, M.H.5
Kleefstra, T.6
Zweier, C.7
de Leeuw, N.8
Qamar, R.9
van Bokhoven, H.10
-
2
-
-
0031587859
-
Not a new Seckel-like syndrome but ear-patella-short stature syndrome
-
Ahmad S, Teebi RJG. 1997. Not a new Seckel-like syndrome but ear-patella-short stature syndrome. Am J Med Genet 70:454.
-
(1997)
Am J Med Genet
, vol.70
, pp. 454
-
-
Ahmad, S.1
Teebi, R.J.G.2
-
3
-
-
78651373493
-
Neural stem and progenitor cells shorten S-phase on commitment to neuron production
-
Arai Y, Pulvers JN, Haffner C, Schilling B, Nusslein I, Calegari F, Huttner WB. 2011. Neural stem and progenitor cells shorten S-phase on commitment to neuron production. Nat Commun 2:154.
-
(2011)
Nat Commun
, vol.2
, pp. 154
-
-
Arai, Y.1
Pulvers, J.N.2
Haffner, C.3
Schilling, B.4
Nusslein, I.5
Calegari, F.6
Huttner, W.B.7
-
4
-
-
0032508504
-
Enhanced phosphorylation of p53 by ATM in response to DNA damage
-
Banin S, Moyal L, Shieh S, Taya Y, Anderson CW, Chessa L, Smorodinsky NI, Prives C, Reiss Y, Shiloh Y, Ziv Y. 1998. Enhanced phosphorylation of p53 by ATM in response to DNA damage. Science 281:1674-1677.
-
(1998)
Science
, vol.281
, pp. 1674-1677
-
-
Banin, S.1
Moyal, L.2
Shieh, S.3
Taya, Y.4
Anderson, C.W.5
Chessa, L.6
Smorodinsky, N.I.7
Prives, C.8
Reiss, Y.9
Shiloh, Y.10
Ziv, Y.11
-
5
-
-
34249336078
-
Centrosome biogenesis and function: Centrosomics brings new understanding
-
Bettencourt-Dias M, Glover DM. 2007. Centrosome biogenesis and function: Centrosomics brings new understanding. Nat Rev Mol Cell Biol 8:451-463.
-
(2007)
Nat Rev Mol Cell Biol
, vol.8
, pp. 451-463
-
-
Bettencourt-Dias, M.1
Glover, D.M.2
-
6
-
-
79953198187
-
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
-
Bicknell LS, Bongers EMHF, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PAJ, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NVAM, MacKenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. 2011a. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet 43:356-359.
-
(2011)
Nat Genet
, vol.43
, pp. 356-359
-
-
Bicknell, L.S.1
Bongers, E.M.H.F.2
Leitch, A.3
Brown, S.4
Schoots, J.5
Harley, M.E.6
Aftimos, S.7
Al-Aama, J.Y.8
Bober, M.9
Brown, P.A.J.10
van Bokhoven, H.11
Dean, J.12
Edrees, A.Y.13
Feingold, M.14
Fryer, A.15
Hoefsloot, L.H.16
Kau, N.17
Knoers, N.V.A.M.18
MacKenzie, J.19
Opitz, J.M.20
Sarda, P.21
Ross, A.22
Temple, I.K.23
Toutain, A.24
Wise, C.A.25
Wright, M.26
Jackson, A.P.27
more..
-
7
-
-
79953167422
-
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
-
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin C-A, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA. 2011b. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet 43:350-355.
-
(2011)
Nat Genet
, vol.43
, pp. 350-355
-
-
Bicknell, L.S.1
Walker, S.2
Klingseisen, A.3
Stiff, T.4
Leitch, A.5
Kerzendorfer, C.6
Martin, C.-A.7
Yeyati, P.8
Al Sanna, N.9
Bober, M.10
Johnson, D.11
Wise, C.12
Jackson, A.P.13
O'Driscoll, M.14
Jeggo, P.A.15
-
8
-
-
58149196291
-
The crystal structure of the N-terminal region of BUB1 provides insight into the mechanism of BUB1 recruitment to kinetochores
-
Bolanos-Garcia VM, Kiyomitsu T, D'Arcy S, Chirgadze DY, Grossmann JG, Matak-Vinkovic D, Venkitaraman AR, Yanagida M, Robinson CV, Blundell TL. 2009. The crystal structure of the N-terminal region of BUB1 provides insight into the mechanism of BUB1 recruitment to kinetochores. Structure 17:105-116.
-
(2009)
Structure
, vol.17
, pp. 105-116
-
-
Bolanos-Garcia, V.M.1
Kiyomitsu, T.2
D'Arcy, S.3
Chirgadze, D.Y.4
Grossmann, J.G.5
Matak-Vinkovic, D.6
Venkitaraman, A.R.7
Yanagida, M.8
Robinson, C.V.9
Blundell, T.L.10
-
9
-
-
0036787796
-
ASPM is a major determinant of cerebral cortical size
-
Bond JRE, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG. 2002. ASPM is a major determinant of cerebral cortical size. Nat Genet 32:316-320.
-
(2002)
Nat Genet
, vol.32
, pp. 316-320
-
-
Bond, J.R.E.1
Mochida, G.H.2
Hampshire, D.J.3
Scott, S.4
Askham, J.M.5
Springell, K.6
Mahadevan, M.7
Crow, Y.J.8
Markham, A.F.9
Walsh, C.A.10
Woods, C.G.11
-
10
-
-
25144489724
-
Human syndromes with congenital patellar anomalies and the underlying gene defects
-
Bongers E, Van Kampen A, Van Bokhoven H, Knoers N. 2005. Human syndromes with congenital patellar anomalies and the underlying gene defects. Clin Genet 68:302-319.
-
(2005)
Clin Genet
, vol.68
, pp. 302-319
-
-
Bongers, E.1
Van Kampen, A.2
Van Bokhoven, H.3
Knoers, N.4
-
11
-
-
80053021310
-
ASPM regulates Wnt signaling pathway activity in the developing brain
-
Buchman JJ, Durak O, Tsai L-H. 2011. ASPM regulates Wnt signaling pathway activity in the developing brain. Genes & Development 25:1909-1914.
-
(2011)
Genes & Development
, vol.25
, pp. 1909-1914
-
-
Buchman, J.J.1
Durak, O.2
Tsai, L.-H.3
-
12
-
-
31044440630
-
-
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell
-
Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche M-C, Sanal O, Plebani A, Stephan J-L, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay J-P, Revy P. 2006. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 124:287-299.
-
(2006)
, vol.124
, pp. 287-299
-
-
Buck, D.1
Malivert, L.2
de Chasseval, R.3
Barraud, A.4
Fondaneche, M.-C.5
Sanal, O.6
Plebani, A.7
Stephan, J.-L.8
Hufnagel, M.9
le Deist, F.10
Fischer, A.11
Durandy, A.12
de Villartay, J.-P.13
Revy, P.14
-
13
-
-
0036710699
-
Polynucleotide kinase. A versatile molecule makes a clean break
-
Caldecott K. 2002. Polynucleotide kinase. A versatile molecule makes a clean break. Structure [Camb] 10:1151.
-
(2002)
Structure [Camb]
, vol.10
, pp. 1151
-
-
Caldecott, K.1
-
14
-
-
48249095920
-
Single-strand break repair and genetic disease
-
Caldecott KW. 2008. Single-strand break repair and genetic disease. Nat Rev Genet 9:619-631.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 619-631
-
-
Caldecott, K.W.1
-
15
-
-
84871607211
-
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome
-
Capo-Chichi J-M, Bharti SK, Sommers JA, Yammine T, Chouery E, Patry L, Rouleau GA, Samuels ME, Hamdan FF, Michaud JL, Brosh RM Jr, Mégarbane A, Kibar Z. 2013. Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. Hum Mutat 34:103-107.
-
(2013)
Hum Mutat
, vol.34
, pp. 103-107
-
-
Capo-Chichi, J.-M.1
Bharti, S.K.2
Sommers, J.A.3
Yammine, T.4
Chouery, E.5
Patry, L.6
Rouleau, G.A.7
Samuels, M.E.8
Hamdan, F.F.9
Michaud, J.L.10
Brosh Jr, R.M.11
Mégarbane, A.12
Kibar, Z.13
-
16
-
-
0032076248
-
The hMre11/hRad50 protein complex and Nijmegen breakage-syndrome: Linkage of double-strand break repair to the cellular DNA damage response
-
Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR III, Hays L, Morgan WF, Petrini JHJ. 1998. The hMre11/hRad50 protein complex and Nijmegen breakage-syndrome: Linkage of double-strand break repair to the cellular DNA damage response. Cell 93:477-486.
-
(1998)
Cell
, vol.93
, pp. 477-486
-
-
Carney, J.P.1
Maser, R.S.2
Olivares, H.3
Davis, E.M.4
Le Beau, M.5
Yates III, J.R.6
Hays, L.7
Morgan, W.F.8
Petrini, J.H.J.9
-
17
-
-
84864097350
-
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair
-
Casey JP, Nobbs M, McGettigan P, Lynch S, Ennis S. 2012. Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair. J Med Genet 49:242-245.
-
(2012)
J Med Genet
, vol.49
, pp. 242-245
-
-
Casey, J.P.1
Nobbs, M.2
McGettigan, P.3
Lynch, S.4
Ennis, S.5
-
18
-
-
47749141560
-
ATR: An essential regulator of genome integrity
-
Cimprich KA, 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
-
19
-
-
78349263512
-
Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome
-
Cizmecioglu O, Arnold M, Bahtz R, Settele F, Ehret L, Haselmann-Weiß U, Antony C, Hoffmann I. 2010. Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome. J Cell Biol 191:731-739.
-
(2010)
J Cell Biol
, vol.191
, pp. 731-739
-
-
Cizmecioglu, O.1
Arnold, M.2
Bahtz, R.3
Settele, F.4
Ehret, L.5
Haselmann-Weiß, U.6
Antony, C.7
Hoffmann, I.8
-
20
-
-
84902187810
-
Human RecQ helicases in DNA repair, recombination, and replication
-
Epub ahead of print. PMID 24606147. DOI: 10.1146/annurev-biochem-060713-035428
-
Croteau DL, Popuri V, Opresko PL, Bohr VA. 2014. Human RecQ helicases in DNA repair, recombination, and replication. Annu Rev Biochem 83. Epub ahead of print. PMID 24606147. DOI: 10.1146/annurev-biochem-060713-035428
-
(2014)
Annu Rev Biochem
, vol.83
-
-
Croteau, D.L.1
Popuri, V.2
Opresko, P.L.3
Bohr, V.A.4
-
21
-
-
34249004934
-
Cell-cycle control and cortical development
-
Dehay C, Kennedy H. 2007. Cell-cycle control and cortical development. Nat Rev Neurosci 8:438-450.
-
(2007)
Nat Rev Neurosci
, vol.8
, pp. 438-450
-
-
Dehay, C.1
Kennedy, H.2
-
22
-
-
0035144701
-
Cell-cycle kinetics of neocortical precursors are influenced by embryonic thalamic axons
-
Dehay C, Savatier P, Cortay V, Kennedy H. 2001. Cell-cycle kinetics of neocortical precursors are influenced by embryonic thalamic axons. J Neurosci 21:201-214.
-
(2001)
J Neurosci
, vol.21
, pp. 201-214
-
-
Dehay, C.1
Savatier, P.2
Cortay, V.3
Kennedy, H.4
-
23
-
-
84888626405
-
Modernizing the nonhomologous end-joining repertoire: alternative and classical NHEJ share the stage
-
Deriano L, Roth DB. 2013. Modernizing the nonhomologous end-joining repertoire: alternative and classical NHEJ share the stage. Annu Rev Genet 47:433-455.
-
(2013)
Annu Rev Genet
, vol.47
, pp. 433-455
-
-
Deriano, L.1
Roth, D.B.2
-
24
-
-
84876424557
-
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer
-
Domchek SM, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, Monteiro ANA, Messick TE, Powers J, Yonker A, Couch FJ, Goldgar DE, Davidson HR, Nathanson KL, Foulkes WD, Greenberg RA. 2013. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. Cancer Discov 3:399-405.
-
(2013)
Cancer Discov
, vol.3
, pp. 399-405
-
-
Domchek, S.M.1
Tang, J.2
Stopfer, J.3
Lilli, D.R.4
Hamel, N.5
Tischkowitz, M.6
Monteiro, A.N.A.7
Messick, T.E.8
Powers, J.9
Yonker, A.10
Couch, F.J.11
Goldgar, D.E.12
Davidson, H.R.13
Nathanson, K.L.14
Foulkes, W.D.15
Greenberg, R.A.16
-
25
-
-
33745883798
-
Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells
-
Fish JL, Kosodo Y, Enard W, Pääbo S, Huttner WB. 2006. Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells. Proc Natl Acad Sci USA 103:10438-10443.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 10438-10443
-
-
Fish, J.L.1
Kosodo, Y.2
Enard, W.3
Pääbo, S.4
Huttner, W.B.5
-
26
-
-
79960066452
-
Requirement for DNA Ligase IV during Embryonic Neuronal Development
-
Gatz SA, Ju L, Gruber R, Hoffmann E, Carr AM, Wang Z-Q, Liu C, Jeggo PA. 2011. Requirement for DNA Ligase IV during Embryonic Neuronal Development. J Neurosci 31:10088-10100.
-
(2011)
J Neurosci
, vol.31
, pp. 10088-10100
-
-
Gatz, S.A.1
Ju, L.2
Gruber, R.3
Hoffmann, E.4
Carr, A.M.5
Wang, Z.-Q.6
Liu, C.7
Jeggo, P.A.8
-
27
-
-
0035997348
-
V[D]J recombination: RAG proteins, repair factors, and regulation
-
Gellert M. 2002. V[D]J recombination: RAG proteins, repair factors, and regulation. Annu Rev Biochem 71:101-132.
-
(2002)
Annu Rev Biochem
, vol.71
, pp. 101-132
-
-
Gellert, M.1
-
28
-
-
84870323152
-
Kinetochore KMN network gene CASC5 mutated in primary microcephaly
-
Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M. 2012. Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet 21:5306-5317.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 5306-5317
-
-
Genin, A.1
Desir, J.2
Lambert, N.3
Biervliet, M.4
Van Der Aa, N.5
Pierquin, G.6
Killian, A.7
Tosi, M.8
Urbina, M.9
Lefort, A.10
Libert, F.11
Pirson, I.12
Abramowicz, M.13
-
29
-
-
84886286155
-
Genetic causes of microcephaly and lessons for neuronal development
-
Gilmore EC, Walsh CA. 2013. Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol 2:461-478.
-
(2013)
Wiley Interdiscip Rev Dev Biol
, vol.2
, pp. 461-478
-
-
Gilmore, E.C.1
Walsh, C.A.2
-
30
-
-
84857815874
-
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
-
Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcaïs A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova J-L, Jouanguy E. 2012. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. J Clin Invest 122:821-832.
-
(2012)
J Clin Invest
, vol.122
, pp. 821-832
-
-
Gineau, L.1
Cognet, C.2
Kara, N.3
Lach, F.P.4
Dunne, J.5
Veturi, U.6
Picard, C.7
Trouillet, C.8
Eidenschenk, C.9
Aoufouchi, S.10
Alcaïs, A.11
Smith, O.12
Geissmann, F.13
Feighery, C.14
Abel, L.15
Smogorzewska, A.16
Stillman, B.17
Vivier, E.18
Casanova, J.-L.19
Jouanguy, E.20
more..
-
31
-
-
0016823593
-
Malformation syndromes. A selected miscellany
-
Gorlin R, Cervenka J, Moller K, Horrobin M, Witkop CJ. 1975. Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser 11:39-50.
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 39-50
-
-
Gorlin, R.1
Cervenka, J.2
Moller, K.3
Horrobin, M.4
Witkop, C.J.5
-
32
-
-
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, Sanna NA, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M. 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
Sanna, N.A.7
Saggar, A.8
Hamel, B.9
Earnshaw, W.C.10
Jeggo, P.A.11
Jackson, A.P.12
O'Driscoll, M.13
-
33
-
-
80455177095
-
MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway
-
Gruber R, Zhou Z, Sukchev M, Joerss T, Frappart P-O, Wang Z-Q. 2011. MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway. Nat Cell Biol 13:1325-1334.
-
(2011)
Nat Cell Biol
, vol.13
, pp. 1325-1334
-
-
Gruber, R.1
Zhou, Z.2
Sukchev, M.3
Joerss, T.4
Frappart, P.-O.5
Wang, Z.-Q.6
-
34
-
-
79953203480
-
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
-
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. 2011. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet 43:360-364.
-
(2011)
Nat Genet
, vol.43
, pp. 360-364
-
-
Guernsey, D.L.1
Matsuoka, M.2
Jiang, H.3
Evans, S.4
Macgillivray, C.5
Nightingale, M.6
Perry, S.7
Ferguson, M.8
LeBlanc, M.9
Paquette, J.10
Patry, L.11
Rideout, A.L.12
Thomas, A.13
Orr, A.14
McMaster, C.R.15
Michaud, J.L.16
Deal, C.17
Langlois, S.18
Superneau, D.W.19
Parkash, S.20
Ludman, M.21
Skidmore, D.L.22
Samuels, M.E.23
more..
-
35
-
-
76749119957
-
Role of primary cilia in brain development and cancer
-
Han Y-G, Alvarez-Buylla A. 2010. Role of primary cilia in brain development and cancer. Curr Opin Neurobiol 20:58-67.
-
(2010)
Curr Opin Neurobiol
, vol.20
, pp. 58-67
-
-
Han, Y.-G.1
Alvarez-Buylla, A.2
-
36
-
-
10644258336
-
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
-
Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Mehes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N. 2004. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet 36:1159-1161.
-
(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
Kidd, A.7
Mehes, K.8
Nash, R.9
Robin, N.10
Shannon, N.11
Tolmie, J.12
Swansbury, J.13
Irrthum, A.14
Douglas, J.15
Rahman, N.16
-
37
-
-
0032875460
-
Mechanism of action and in vivo role of platelet-derived growth factor
-
Heldin C-H, Westermark B. 1999. Mechanism of action and in vivo role of platelet-derived growth factor. Physiol Rev 79:1283-1316.
-
(1999)
Physiol Rev
, vol.79
, pp. 1283-1316
-
-
Heldin, C.-H.1
Westermark, B.2
-
38
-
-
59849095061
-
Orc1 controls centriole and centrosome copy number in human cells
-
Hemerly AS, Prasanth SG, Siddiqui K, Stillman B. 2009. Orc1 controls centriole and centrosome copy number in human cells. Science 323:789-793.
-
(2009)
Science
, vol.323
, pp. 789-793
-
-
Hemerly, A.S.1
Prasanth, S.G.2
Siddiqui, K.3
Stillman, B.4
-
39
-
-
0032524070
-
Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system
-
Herzog K-H, Chong MJ, Kapsetaki M, Morgan JI, McKinnon PJ. 1998. Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system. Science 280:1089-1091.
-
(1998)
Science
, vol.280
, pp. 1089-1091
-
-
Herzog, K.-H.1
Chong, M.J.2
Kapsetaki, M.3
Morgan, J.I.4
McKinnon, P.J.5
-
40
-
-
78149425175
-
Regulation of homologous recombination in eukaryotes
-
Heyer W-D, Ehmsen KT, Liu J. 2010. Regulation of homologous recombination in eukaryotes. Annu Rev Genet 44:113-139.
-
(2010)
Annu Rev Genet
, vol.44
, pp. 113-139
-
-
Heyer, W.-D.1
Ehmsen, K.T.2
Liu, J.3
-
41
-
-
0037364415
-
RecQ helicases: Caretakers of the genome
-
Hickson ID. 2003. RecQ helicases: Caretakers of the genome. Nat Rev Cancer 3:169-178.
-
(2003)
Nat Rev Cancer
, vol.3
, pp. 169-178
-
-
Hickson, I.D.1
-
42
-
-
0035873385
-
It takes two to tango": Understanding how centrosome duplication is regulated throughout the cell cycle
-
Hinchcliffe EHSG. 2001. " It takes two to tango": Understanding how centrosome duplication is regulated throughout the cell cycle. Genes Dev 15:1167-1181.
-
(2001)
Genes Dev
, vol.15
, pp. 1167-1181
-
-
Hinchcliffe, E.H.S.G.1
-
43
-
-
84857875264
-
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
-
Hughes CR, Guasti L, Meimaridou E, Chuang C-H, Schimenti JC, King PJ, Costigan C, Clark AJL, Metherell LA. 2012. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest 122:814-820.
-
(2012)
J Clin Invest
, vol.122
, pp. 814-820
-
-
Hughes, C.R.1
Guasti, L.2
Meimaridou, E.3
Chuang, C.-H.4
Schimenti, J.C.5
King, P.J.6
Costigan, C.7
Clark, A.J.L.8
Metherell, L.A.9
-
44
-
-
84876121903
-
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
-
Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl A, Morris-Rosendahl D. 2013. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Orphanet J Rare Dis 8:59.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 59
-
-
Issa, L.1
Mueller, K.2
Seufert, K.3
Kraemer, N.4
Rosenkotter, H.5
Ninnemann, O.6
Buob, M.7
Kaindl, A.8
Morris-Rosendahl, D.9
-
45
-
-
70449720657
-
Tubulin-related cortical dysgeneses: Microtubule dysfunction underlying neuronal migration defects
-
Jaglin XH, Chelly J. 2009. Tubulin-related cortical dysgeneses: Microtubule dysfunction underlying neuronal migration defects. Trends Genet 25:555-566.
-
(2009)
Trends Genet
, vol.25
, pp. 555-566
-
-
Jaglin, X.H.1
Chelly, J.2
-
46
-
-
0033361792
-
Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15
-
Jamieson CR, Govaerts C, Abramowicz MJ. 1999. Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 65:1465-1469.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1465-1469
-
-
Jamieson, C.R.1
Govaerts, C.2
Abramowicz, M.J.3
-
47
-
-
77949557756
-
Dna2 on the road to Okazaki fragment processing and genome stability in eukaryotes
-
Kang Y-H, Lee C-H, Seo Y-S. 2010. Dna2 on the road to Okazaki fragment processing and genome stability in eukaryotes. Crit Rev Biochem Mol Biol 45:71-96.
-
(2010)
Crit Rev Biochem Mol Biol
, vol.45
, pp. 71-96
-
-
Kang, Y.-H.1
Lee, C.-H.2
Seo, Y.-S.3
-
48
-
-
84868613789
-
Molecular pathogenesis and clinical management of fanconi anemia
-
Kee Yx, Andrea AD. 2012. Molecular pathogenesis and clinical management of fanconi anemia. J Clin Invest 122:3799-3806.
-
(2012)
J Clin Invest
, vol.122
, pp. 3799-3806
-
-
Kee, Y.1
Andrea, A.D.2
-
49
-
-
84880584798
-
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: Two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis
-
Kerzendorfer C, Colnaghi R, Abramowicz I, Carpenter G, O'Driscoll M. 2013. Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: Two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. DNA Repair 12:637-644.
-
(2013)
DNA Repair
, vol.12
, pp. 637-644
-
-
Kerzendorfer, C.1
Colnaghi, R.2
Abramowicz, I.3
Carpenter, G.4
O'Driscoll, M.5
-
50
-
-
84863670930
-
Regulation of DNA cross-link repair by the fanconi anemia/BRCA pathway
-
Kim H, D'Andrea AD. 2012. Regulation of DNA cross-link repair by the fanconi anemia/BRCA pathway. Genes Dev 26:1393-1408.
-
(2012)
Genes Dev
, vol.26
, pp. 1393-1408
-
-
Kim, H.1
D'Andrea, A.D.2
-
51
-
-
79952269227
-
Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins Bub1 and BubR1
-
Kiyomitsu T, Murakami H, Yanagida M. 2011. Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins Bub1 and BubR1. Mol Cell Biol 31:998-1011.
-
(2011)
Mol Cell Biol
, vol.31
, pp. 998-1011
-
-
Kiyomitsu, T.1
Murakami, H.2
Yanagida, M.3
-
52
-
-
35649019314
-
Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1
-
Kiyomitsu T, Obuse C, Yanagida M. 2007. Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1. Dev Cell 13:663-676.
-
(2007)
Dev Cell
, vol.13
, pp. 663-676
-
-
Kiyomitsu, T.1
Obuse, C.2
Yanagida, M.3
-
53
-
-
6344238643
-
Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV
-
Koch CA, Agyei R, Galicia S, Metalnikov P, O'Donnell P, Starostine A, Weinfeld M, Durocher D. 2004. Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV. EMBO J 23:3874-3885.
-
(2004)
EMBO J
, vol.23
, pp. 3874-3885
-
-
Koch, C.A.1
Agyei, R.2
Galicia, S.3
Metalnikov, P.4
O'Donnell, P.5
Starostine, A.6
Weinfeld, M.7
Durocher, D.8
-
55
-
-
84862818911
-
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome
-
Kuo AJ, Song J, Cheung P, Ishibe-Murakami S, Yamazoe S, Chen JK, Patel DJ, Gozani O. 2012. The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome. Nature 484:115-119.
-
(2012)
Nature
, vol.484
, pp. 115-119
-
-
Kuo, A.J.1
Song, J.2
Cheung, P.3
Ishibe-Murakami, S.4
Yamazoe, S.5
Chen, J.K.6
Patel, D.J.7
Gozani, O.8
-
56
-
-
84884414984
-
Cerebral organoids model human brain development and microcephaly
-
Lancaster MA, Renner M, Martin C-A, Wenzel D, Bicknell LS, Hurles ME, Homfray T, Penninger JM, Jackson AP, Knoblich JA. 2013. Cerebral organoids model human brain development and microcephaly. Nature 501:373-379.
-
(2013)
Nature
, vol.501
, pp. 373-379
-
-
Lancaster, M.A.1
Renner, M.2
Martin, C.-A.3
Wenzel, D.4
Bicknell, L.S.5
Hurles, M.E.6
Homfray, T.7
Penninger, J.M.8
Jackson, A.P.9
Knoblich, J.A.10
-
57
-
-
52449114574
-
Ataxia-telangiectasia: From a rare disorder to a paradigm for cell signalling and cancer
-
Lavin MF. 2008. Ataxia-telangiectasia: From a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol 9:759-769.
-
(2008)
Nat Rev Mol Cell Biol
, vol.9
, pp. 759-769
-
-
Lavin, M.F.1
-
58
-
-
79953047750
-
Cilia in the nervous system: Linking cilia function and neurodevelopmental disorders
-
Lee JE, Gleeson JG. 2011. Cilia in the nervous system: Linking cilia function and neurodevelopmental disorders. Curr Opin Neurol 24:98-105.
-
(2011)
Curr Opin Neurol
, vol.24
, pp. 98-105
-
-
Lee, J.E.1
Gleeson, J.G.2
-
59
-
-
84861572426
-
Neurogenesis requires TopBP1 to prevent catastrophic replicative DNA damage in early progenitors
-
Lee Y, Katyal S, Downing SM, Zhao J, Russell HR, McKinnon PJ. 2012a. Neurogenesis requires TopBP1 to prevent catastrophic replicative DNA damage in early progenitors. Nat Neurosci 15:819-826.
-
(2012)
Nat Neurosci
, vol.15
, pp. 819-826
-
-
Lee, Y.1
Katyal, S.2
Downing, S.M.3
Zhao, J.4
Russell, H.R.5
McKinnon, P.J.6
-
60
-
-
84862777854
-
ATR maintains select progenitors during nervous system development
-
Lee Y, Shull ER, Frappart PO, Katyal S, Enriquez-Rios V, Zhao J, Russell HR, Brown EJ, McKinnon PJ. 2012b. ATR maintains select progenitors during nervous system development. EMBO J 31:1177-1189.
-
(2012)
EMBO J
, vol.31
, pp. 1177-1189
-
-
Lee, Y.1
Shull, E.R.2
Frappart, P.O.3
Katyal, S.4
Enriquez-Rios, V.5
Zhao, J.6
Russell, H.R.7
Brown, E.J.8
McKinnon, P.J.9
-
61
-
-
35548978945
-
The impact of a negligent G2/M checkpoint on genomic instability and cancer induction
-
Lobrich M, Jeggo PA. 2007. The impact of a negligent G2/M checkpoint on genomic instability and cancer induction. Nat Rev Cancer 7:861-869.
-
(2007)
Nat Rev Cancer
, vol.7
, pp. 861-869
-
-
Lobrich, M.1
Jeggo, P.A.2
-
62
-
-
80052264429
-
Germline mutations in RAD51D confer susceptibility to ovarian cancer
-
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. 2011. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 43:879-882.
-
(2011)
Nat Genet
, vol.43
, pp. 879-882
-
-
Loveday, C.1
Turnbull, C.2
Ramsay, E.3
Hughes, D.4
Ruark, E.5
Frankum, J.R.6
Bowden, G.7
Kalmyrzaev, B.8
Warren-Perry, M.9
Snape, K.10
Adlard, J.W.11
Barwell, J.12
Berg, J.13
Brady, A.F.14
Brewer, C.15
Brice, G.16
Chapman, C.17
Cook, J.18
Davidson, R.19
Donaldson, A.20
Douglas, F.21
Greenhalgh, L.22
Henderson, A.23
Izatt, L.24
Kumar, A.25
Lalloo, F.26
Miedzybrodzka, Z.27
Morrison, P.J.28
Paterson, J.29
Porteous, M.30
Rogers, M.T.31
Shanley, S.32
Walker, L.33
Eccles, D.34
Evans, D.G.35
Renwick, A.36
Seal, S.37
Lord, C.J.38
Ashworth, A.39
Reis-Filho, J.S.40
Antoniou, A.C.41
Rahman, N.42
more..
-
63
-
-
84860320440
-
Germline RAD51C mutations confer susceptibility to ovarian cancer
-
Loveday C, Turnbull C, Ruark E, Xicola RMM, Ramsay E, Hughes D, Warren-Perry M, Snape K, Eccles D, Evans DG, Gore M, Renwick A, Seal S, Antoniou AC, Rahman N. 2012. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 44:475-476.
-
(2012)
Nat Genet
, vol.44
, pp. 475-476
-
-
Loveday, C.1
Turnbull, C.2
Ruark, E.3
Xicola, R.M.M.4
Ramsay, E.5
Hughes, D.6
Warren-Perry, M.7
Snape, K.8
Eccles, D.9
Evans, D.G.10
Gore, M.11
Renwick, A.12
Seal, S.13
Antoniou, A.C.14
Rahman, N.15
-
64
-
-
79958276783
-
Autosomal recessive primary microcephaly [MCPH]: clinical manifestations, genetic heterogeneity and mutation continuum
-
Mahmood S, Ahmad W, Hassan M. 2011. Autosomal recessive primary microcephaly [MCPH]: clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis 6:39.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 39
-
-
Mahmood, S.1
Ahmad, W.2
Hassan, M.3
-
66
-
-
79951852632
-
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly
-
Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S. 2011. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. DNA Repair 10:314-321.
-
(2011)
DNA Repair
, vol.10
, pp. 314-321
-
-
Matsumoto, Y.1
Miyamoto, T.2
Sakamoto, H.3
Izumi, H.4
Nakazawa, Y.5
Ogi, T.6
Tahara, H.7
Oku, S.8
Hiramoto, A.9
Shiiki, T.10
Fujisawa, Y.11
Ohashi, H.12
Sakemi, Y.13
Matsuura, S.14
-
67
-
-
34249947699
-
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage
-
Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER III, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ. 2007. ATM and 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
Shiloh, Y.11
Gygi, S.P.12
Elledge, S.J.13
-
68
-
-
0033854340
-
Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint
-
Matsuura S, Ito E, Tauchi H, Komatsu K, Ikeuchi T, Kajii T. 2000. Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint. Am J Hum Genet 67:483-486.
-
(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
-
69
-
-
77951720395
-
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
-
Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deiszler H, Engel C, Muller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H. 2010. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42:410-414.
-
(2010)
Nat Genet
, vol.42
, pp. 410-414
-
-
Meindl, A.1
Hellebrand, H.2
Wiek, C.3
Erven, V.4
Wappenschmidt, B.5
Niederacher, D.6
Freund, M.7
Lichtner, P.8
Hartmann, L.9
Schaal, H.10
Ramser, J.11
Honisch, E.12
Kubisch, C.13
Wichmann, H.E.14
Kast, K.15
Deiszler, H.16
Engel, C.17
Muller-Myhsok, B.18
Neveling, K.19
Kiechle, M.20
Mathew, C.G.21
Schindler, D.22
Schmutzler, R.K.23
Hanenberg, H.24
more..
-
70
-
-
68249116573
-
DNA end resection: Many nucleases make light work
-
Mimitou EP, Symington LS. 2009. DNA end resection: Many nucleases make light work. DNA Repair 8:983-995.
-
(2009)
DNA Repair
, vol.8
, pp. 983-995
-
-
Mimitou, E.P.1
Symington, L.S.2
-
71
-
-
84904420531
-
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
-
Epub ahead of publication. DOI: 10.1007/s00439-014-1443-3
-
Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O Driscoll M. 2014. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Human Genet, Epub ahead of publication. DOI: 10.1007/s00439-014-1443-3
-
(2014)
Human Genet
-
-
Mirzaa, G.M.1
Vitre, B.2
Carpenter, G.3
Abramowicz, I.4
Gleeson, J.G.5
Paciorkowski, A.R.6
Cleveland, D.W.7
Dobyns, W.B.8
O'Driscoll, M.9
-
72
-
-
70349663509
-
Pericentrin, a centrosomal protein related to microcephalic primordial dwarfism, is required for olfactory cilia assembly in mice
-
Miyoshi K, Kasahara K, Miyazaki I, Shimizu S, Taniguchi M, Matsuzaki S, Tohyama M, Asanuma M. 2009. Pericentrin, a centrosomal protein related to microcephalic primordial dwarfism, is required for olfactory cilia assembly in mice. FASEB J 23:3289-3297.
-
(2009)
FASEB J
, vol.23
, pp. 3289-3297
-
-
Miyoshi, K.1
Kasahara, K.2
Miyazaki, I.3
Shimizu, S.4
Taniguchi, M.5
Matsuzaki, S.6
Tohyama, M.7
Asanuma, M.8
-
73
-
-
33748095368
-
Embryonic expression of pericentrin suggests universal roles in ciliogenesis
-
Miyoshi K, Onishi K, Asanuma M, Miyazaki I, Diaz-Corrales F, Ogawa N. 2006. Embryonic expression of pericentrin suggests universal roles in ciliogenesis. Dev Genes Evol 216:537-542.
-
(2006)
Dev Genes Evol
, vol.216
, pp. 537-542
-
-
Miyoshi, K.1
Onishi, K.2
Asanuma, M.3
Miyazaki, I.4
Diaz-Corrales, F.5
Ogawa, N.6
-
74
-
-
72149119542
-
How the fanconi anemia pathway guards the genome
-
Moldovan G-L, D'Andrea AD. 2009. How the fanconi anemia pathway guards the genome. Annu Rev Genet 43:223-249.
-
(2009)
Annu Rev Genet
, vol.43
, pp. 223-249
-
-
Moldovan, G.-L.1
D'Andrea, A.D.2
-
75
-
-
53949087784
-
Refining the phenotype of α-1a Tubulin [TUBA1A] mutation in patients with classical lissencephaly
-
Morris-Rosendahl DJ, Najm J, Lachmeijer AMA, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G. 2008. Refining the phenotype of α-1a Tubulin [TUBA1A] mutation in patients with classical lissencephaly. Clin Genet 74:425-433.
-
(2008)
Clin Genet
, vol.74
, pp. 425-433
-
-
Morris-Rosendahl, D.J.1
Najm, J.2
Lachmeijer, A.M.A.3
Sztriha, L.4
Martins, M.5
Kuechler, A.6
Haug, V.7
Zeschnigk, C.8
Martin, P.9
Santos, M.10
Vasconcelos, C.11
Omran, H.12
Kraus, U.13
Van der Knaap, M.S.14
Schuierer, G.15
Kutsche, K.16
Uyanik, G.17
-
76
-
-
0035917489
-
Artemis, a novel DNA double-strand break repair/V[D]J recombination protein, is mutated in human severe combined immune deficiency
-
Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP. 2001. Artemis, a novel DNA double-strand break repair/V[D]J recombination protein, is mutated in human severe combined immune deficiency. Cell 105:177-186.
-
(2001)
Cell
, vol.105
, pp. 177-186
-
-
Moshous, D.1
Callebaut, I.2
de Chasseval, R.3
Corneo, B.4
Cavazzana-Calvo, M.5
Le Deist, F.6
Tezcan, I.7
Sanal, O.8
Bertrand, Y.9
Philippe, N.10
Fischer, A.11
de Villartay, J.P.12
-
77
-
-
77649131406
-
Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis
-
Moynahan ME, Jasin M. 2010. Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis. Nat Rev Mol Cell Biol 11:196-207.
-
(2010)
Nat Rev Mol Cell Biol
, vol.11
, pp. 196-207
-
-
Moynahan, M.E.1
Jasin, M.2
-
78
-
-
80054837002
-
The centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptors
-
Mühlhans J, Brandstätter JH, 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
-
-
Mühlhans, J.1
Brandstätter, J.H.2
Gießl, A.3
-
79
-
-
68149161607
-
A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging
-
Murga M, Bunting S, Montana MF, Soria R, Mulero F, Canamero M, Lee Y, McKinnon PJ, Nussenzweig A, 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
-
80
-
-
84890790193
-
Extreme growth failure is a common presentation of ligase IV deficiency
-
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. 2014. Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat 35:76-85.
-
(2014)
Hum Mutat
, vol.35
, pp. 76-85
-
-
Murray, J.E.1
Bicknell, L.S.2
Yigit, G.3
Duker, A.L.4
van Kogelenberg, M.5
Haghayegh, S.6
Wieczorek, D.7
Kayserili, H.8
Albert, M.H.9
Wise, C.A.10
Brandon, J.11
Kleefstra, T.12
Warris, A.13
van der Flier, M.14
Bamforth, J.S.15
Doonanco, K.16
Adès, L.17
Ma, A.18
Field, M.19
Johnson, D.20
Shackley, F.21
Firth, H.22
Woods, C.G.23
Nürnberg, P.24
Gatti, R.A.25
Hurles, M.26
Bober, M.B.27
Wollnik, B.28
Jackson, A.P.29
more..
-
81
-
-
81055155447
-
Spindle assembly checkpoint: The third decade
-
Musacchio A. 2011. Spindle assembly checkpoint: The third decade. Philos Trans Roy Soc B Biol Sci 366:3595-3604.
-
(2011)
Philos Trans Roy Soc B Biol Sci
, vol.366
, pp. 3595-3604
-
-
Musacchio, A.1
-
82
-
-
33751087739
-
The BAH domain facilitates the ability of human Orc1 protein to activate replication origins in vivo
-
Noguchi K, Vassilev A, Ghosh S, Yates JL, DePamphilis ML. 2006. The BAH domain facilitates the ability of human Orc1 protein to activate replication origins in vivo. EMBO J 25:5372-5382.
-
(2006)
EMBO J
, vol.25
, pp. 5372-5382
-
-
Noguchi, K.1
Vassilev, A.2
Ghosh, S.3
Yates, J.L.4
DePamphilis, M.L.5
-
83
-
-
84897955397
-
Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression
-
Novorol C, Burkhardt J, Wood KJ, Iqbal A, Roque C, Coutts N, Almeida AD, He J, Wilkinson CJ, Harris WA. 2013. Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression. Open Biol 3:e130065.
-
(2013)
Open Biol
, vol.3
-
-
Novorol, C.1
Burkhardt, J.2
Wood, K.J.3
Iqbal, A.4
Roque, C.5
Coutts, N.6
Almeida, A.D.7
He, J.8
Wilkinson, C.J.9
Harris, W.A.10
-
84
-
-
70349852751
-
Mouse models for ATR deficiency
-
O'Driscoll M. 2009. Mouse models for ATR deficiency. DNA Repair 8:1333-1337.
-
(2009)
DNA Repair
, vol.8
, pp. 1333-1337
-
-
O'Driscoll, M.1
-
85
-
-
18244362081
-
DNA ligase IV mutations identified in patients exhibiting development delay and immunodeficiency
-
O'Driscoll M, Cerosaletti KM, Girard P-M, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Sperling K, Jeggo PA, Concannon P. 2001. DNA ligase IV mutations identified in patients exhibiting development delay and immunodeficiency. Mol Cell 8:1175-1185.
-
(2001)
Mol Cell
, vol.8
, pp. 1175-1185
-
-
O'Driscoll, M.1
Cerosaletti, K.M.2
Girard, P.-M.3
Dai, Y.4
Stumm, M.5
Kysela, B.6
Hirsch, B.7
Gennery, A.8
Palmer, S.E.9
Seidel, J.10
Gatti, R.A.11
Varon, R.12
Oettinger, M.A.13
Sperling, K.14
Jeggo, P.A.15
Concannon, P.16
-
86
-
-
29244437908
-
The role of double-strand break repair-Insights from human genetics
-
O'Driscoll M, Jeggo PA. 2006. The role of double-strand break repair-Insights from human genetics. Nat Rev Genet 7:45-54.
-
(2006)
Nat Rev Genet
, vol.7
, pp. 45-54
-
-
O'Driscoll, M.1
Jeggo, P.A.2
-
87
-
-
44949208286
-
The role of the DNA damage response pathways in brain development and microcephaly: Insight from human disorders
-
O'Driscoll M, Jeggo PA. 2008. The role of the DNA damage response pathways in brain development and microcephaly: Insight from human disorders. DNA Repair 7:1039-1050.
-
(2008)
DNA Repair
, vol.7
, pp. 1039-1050
-
-
O'Driscoll, M.1
Jeggo, P.A.2
-
88
-
-
0345073699
-
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
-
O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. 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
-
89
-
-
84870738828
-
Diseases associated with defective responses to DNA damage
-
O'Driscoll M. 2012. Diseases associated with defective responses to DNA damage. Cold Spring Harb Perspect Biol 4:411-435.
-
(2012)
Cold Spring Harb Perspect Biol
, vol.4
, pp. 411-435
-
-
O'Driscoll, M.1
-
90
-
-
84870657902
-
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel syndrome
-
Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AMR, O'Driscoll M, Jeggo PA. 2012. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel syndrome. PLoS Genet 8:e1002945.
-
(2012)
PLoS Genet
, vol.8
-
-
Ogi, T.1
Walker, S.2
Stiff, T.3
Hobson, E.4
Limsirichaikul, S.5
Carpenter, G.6
Prescott, K.7
Suri, M.8
Byrd, P.J.9
Matsuse, M.10
Mitsutake, N.11
Nakazawa, Y.12
Vasudevan, P.13
Barrow, M.14
Stewart, G.S.15
Taylor, A.M.R.16
O'Driscoll, M.17
Jeggo, P.A.18
-
91
-
-
33745628782
-
Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development
-
Orii KE, Lee Y, Kondo N, McKinnon PJ. 2006. Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development. Proc Natl Acad Sci USA 103:10017-10022.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 10017-10022
-
-
Orii, K.E.1
Lee, Y.2
Kondo, N.3
McKinnon, P.J.4
-
92
-
-
76049113552
-
Forced G1-phase reduction alters mode of division, neuron number, and laminar phenotype in the cerebral cortex
-
Pilaz L-J, Patti D, Marcy G, Ollier E, Pfister S, Douglas RJ, Betizeau M, Gautier E, Cortay V, Doerflinger N, Kennedy H, Dehay C. 2009. Forced G1-phase reduction alters mode of division, neuron number, and laminar phenotype in the cerebral cortex. Proc Natl Acad Sci USA 106:21924-21929.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 21924-21929
-
-
Pilaz, L.-J.1
Patti, D.2
Marcy, G.3
Ollier, E.4
Pfister, S.5
Douglas, R.J.6
Betizeau, M.7
Gautier, E.8
Cortay, V.9
Doerflinger, N.10
Kennedy, H.11
Dehay, C.12
-
93
-
-
84878717611
-
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
-
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Genevieve D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'Guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. 2013. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 45:639-647.
-
(2013)
Nat Genet
, vol.45
, pp. 639-647
-
-
Poirier, K.1
Lebrun, N.2
Broix, L.3
Tian, G.4
Saillour, Y.5
Boscheron, C.6
Parrini, E.7
Valence, S.8
Pierre, B.S.9
Oger, M.10
Lacombe, D.11
Genevieve, D.12
Fontana, E.13
Darra, F.14
Cances, C.15
Barth, M.16
Bonneau, D.17
Bernadina, B.D.18
N'Guyen, S.19
Gitiaux, C.20
Parent, P.21
des Portes, V.22
Pedespan, J.M.23
Legrez, V.24
Castelnau-Ptakine, L.25
Nitschke, P.26
Hieu, T.27
Masson, C.28
Zelenika, D.29
Andrieux, A.30
Francis, F.31
Guerrini, R.32
Cowan, N.J.33
Bahi-Buisson, N.34
Chelly, J.35
more..
-
94
-
-
33646141379
-
A novel domain suggests a ciliary function for ASPM, a brain size determining gene
-
Ponting CP. 2006. A novel domain suggests a ciliary function for ASPM, a brain size determining gene. Bioinformatics 22:1031-1035.
-
(2006)
Bioinformatics
, vol.22
, pp. 1031-1035
-
-
Ponting, C.P.1
-
95
-
-
80055077904
-
CtIP mutations cause Seckel and Jawad syndromes
-
Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Børglum AD. 2011. CtIP mutations cause Seckel and Jawad syndromes. PLoS Genet 7:e1002310.
-
(2011)
PLoS Genet
, vol.7
-
-
Qvist, P.1
Huertas, P.2
Jimeno, S.3
Nyegaard, M.4
Hassan, M.J.5
Jackson, S.P.6
Børglum, A.D.7
-
96
-
-
0029132983
-
A small step for the cell, a giant leap for mankind: A hypothesis of neocortical expansion during evolution
-
Rakic P. 1995. A small step for the cell, a giant leap for mankind: A hypothesis of neocortical expansion during evolution. Trends Neurosci 18:383-388.
-
(1995)
Trends Neurosci
, vol.18
, pp. 383-388
-
-
Rakic, P.1
-
97
-
-
38949087294
-
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
-
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dorfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dorr H-G, Reis A. 2008. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319:816-819.
-
(2008)
Science
, vol.319
, pp. 816-819
-
-
Rauch, A.1
Thiel, C.T.2
Schindler, D.3
Wick, U.4
Crow, Y.J.5
Ekici, A.B.6
van Essen, A.J.7
Goecke, T.O.8
Al-Gazali, L.9
Chrzanowska, K.H.10
Zweier, C.11
Brunner, H.G.12
Becker, K.13
Curry, C.J.14
Dallapiccola, B.15
Devriendt, K.16
Dorfler, A.17
Kinning, E.18
Megarbane, A.19
Meinecke, P.20
Semple, R.K.21
Spranger, S.22
Toutain, A.23
Trembath, R.C.24
Voss, E.25
Wilson, L.26
Hennekam, R.27
de Zegher, F.28
Dorr, H.-G.29
Reis, A.30
more..
-
98
-
-
9744220428
-
A pathway of double strand break rejoining dependent upon ATM, Artemis and proteins locating to g-H2AX foci
-
Riballo E, Kuhne M, Rief N, Doherty AJ, Smith GCM, Recio M-J, Reis C, Dahm K, Fricke A, Krempler A, Parker AR, Jackson SP, Gennery AR, Jeggo PA, Lobrich M. 2004. A pathway of double strand break rejoining dependent upon ATM, Artemis and proteins locating to g-H2AX foci. Mol Cell 16:715-724.
-
(2004)
Mol Cell
, vol.16
, pp. 715-724
-
-
Riballo, E.1
Kuhne, M.2
Rief, N.3
Doherty, A.J.4
Smith, G.C.M.5
Recio, M.-J.6
Reis, C.7
Dahm, K.8
Fricke, A.9
Krempler, A.10
Parker, A.R.11
Jackson, S.P.12
Gennery, A.R.13
Jeggo, P.A.14
Lobrich, M.15
-
99
-
-
84896099926
-
Brain malformations and mutations in α- and β-tubulin genes: A review of the literature and description of two new cases
-
Romaniello R, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi M-T, Borgatti R. 2014. Brain malformations and mutations in α- and β-tubulin genes: A review of the literature and description of two new cases. Dev Med Child Neurol 56:354-360.
-
(2014)
Dev Med Child Neurol
, vol.56
, pp. 354-360
-
-
Romaniello, R.1
Arrigoni, F.2
Cavallini, A.3
Tenderini, E.4
Baschirotto, C.5
Triulzi, F.6
Bassi, M.-T.7
Borgatti, R.8
-
100
-
-
33747884339
-
DNA damage-induced cell death by apoptosis
-
Roos WP, Kaina B. 2006. DNA damage-induced cell death by apoptosis. Trends Mol Med 12:440-450.
-
(2006)
Trends Mol Med
, vol.12
, pp. 440-450
-
-
Roos, W.P.1
Kaina, B.2
-
102
-
-
27144529532
-
PDGFRαα signaling is regulated through the primary cilium in fibroblasts
-
Schneider L, Clement CA, Teilmann SC, Pazour GJ, Hoffmann EK, Satir P, Christensen ST. 2005. PDGFRαα signaling is regulated through the primary cilium in fibroblasts. Curr Biol 15:1861-1866.
-
(2005)
Curr Biol
, vol.15
, pp. 1861-1866
-
-
Schneider, L.1
Clement, C.A.2
Teilmann, S.C.3
Pazour, G.J.4
Hoffmann, E.K.5
Satir, P.6
Christensen, S.T.7
-
103
-
-
84880760617
-
Roles of ChlR1 DNA helicase in replication recovery from DNA damage
-
Shah N, Inoue A, Woo Lee S, Beishline K, Lahti JM, Noguchi E. 2013. Roles of ChlR1 DNA helicase in replication recovery from DNA damage. Exp Cell Res 319:2244-2253.
-
(2013)
Exp Cell Res
, vol.319
, pp. 2244-2253
-
-
Shah, N.1
Inoue, A.2
Woo Lee, S.3
Beishline, K.4
Lahti, J.M.5
Noguchi, E.6
-
104
-
-
84893674890
-
Genomic analysis of primordial dwarfism reveals novel disease genes
-
Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS. 2014. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res 24:291-299.
-
(2014)
Genome Res
, vol.24
, pp. 291-299
-
-
Shaheen, R.1
Faqeih, E.2
Ansari, S.3
Abdel-Salam, G.4
Al-Hassnan, Z.N.5
Al-Shidi, T.6
Alomar, R.7
Sogaty, S.8
Alkuraya, F.S.9
-
105
-
-
84864920718
-
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism
-
Shaheen R, Faqeih E, Shamseldin Hanan E, Noche Ramil R, Sunker A, Alshammari Muneera J, Al-Sheddi T, Adly N, Al-Dosari Mohammed S, Megason Sean G, Al-Husain M, Al-Mohanna F, Alkuraya Fowzan S. 2012. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet 91:330-336.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 330-336
-
-
Shaheen, R.1
Faqeih, E.2
Shamseldin Hanan, E.3
Noche Ramil, R.4
Sunker, A.5
Alshammari Muneera, J.6
Al-Sheddi, T.7
Adly, N.8
Al-Dosari Mohammed, S.9
Megason Sean, G.10
Al-Husain, M.11
Al-Mohanna, F.12
Alkuraya Fowzan, S.13
-
106
-
-
84859484153
-
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
-
Shamseldin HE, Elfaki M, Alkuraya FS. 2012. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet 49:184-186.
-
(2012)
J Med Genet
, vol.49
, pp. 184-186
-
-
Shamseldin, H.E.1
Elfaki, M.2
Alkuraya, F.S.3
-
107
-
-
77649188409
-
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
-
Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. 2010. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet 42:245-249.
-
(2010)
Nat Genet
, vol.42
, pp. 245-249
-
-
Shen, J.1
Gilmore, E.C.2
Marshall, C.A.3
Haddadin, M.4
Reynolds, J.J.5
Eyaid, W.6
Bodell, A.7
Barry, B.8
Gleason, D.9
Allen, K.10
Ganesh, V.S.11
Chang, B.S.12
Grix, A.13
Hill, R.S.14
Topcu, M.15
Caldecott, K.W.16
Barkovich, A.J.17
Walsh, C.A.18
-
108
-
-
84875423827
-
The ATM protein kinase: regulating the cellular response to genotoxic stress, and more
-
Shiloh Y, Ziv Y. 2013. The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol 14:197-210.
-
(2013)
Nat Rev Mol Cell Biol
, vol.14
, pp. 197-210
-
-
Shiloh, Y.1
Ziv, Y.2
-
109
-
-
80054978334
-
A primary microcephaly protein complex forms a ring around parental centrioles
-
Sir J-H, Barr AR, Nicholas AK, Carvalho OP, Khurshid M, Sossick A, Reichelt S, D'Santos C, Woods CG, Gergely F. 2011. A primary microcephaly protein complex forms a ring around parental centrioles. Nat Genet 43:1147-1153.
-
(2011)
Nat Genet
, vol.43
, pp. 1147-1153
-
-
Sir, J.-H.1
Barr, A.R.2
Nicholas, A.K.3
Carvalho, O.P.4
Khurshid, M.5
Sossick, A.6
Reichelt, S.7
D'Santos, C.8
Woods, C.G.9
Gergely, F.10
-
110
-
-
84894353718
-
DNA damage response: Three levels of DNA repair regulation
-
Sirbu BM, Cortez D. 2013. DNA damage response: Three levels of DNA repair regulation. Cold Spring Harb Perspect Biol 5:183-198.
-
(2013)
Cold Spring Harb Perspect Biol
, vol.5
, pp. 183-198
-
-
Sirbu, B.M.1
Cortez, D.2
-
111
-
-
77952980297
-
Function of TopBP1 in genome stability
-
In: Nasheuer H-P editor. Houten (Utrecht), Netherlands: Springer.
-
Sokka M, Parkkinen S, Pospiech H, Syväoja J. 2010. Function of TopBP1 in genome stability. In: Nasheuer H-P editor. Genome stability and human diseases. Houten (Utrecht), Netherlands: Springer. pp 119-141.
-
(2010)
Genome stability and human diseases
, pp. 119-141
-
-
Sokka, M.1
Parkkinen, S.2
Pospiech, H.3
Syväoja, J.4
-
112
-
-
22144497124
-
Retrospective birth dating of cells in humans
-
Spalding KL, Bhardwaj RD, Buchholz BA, Druid H, Frisén J. 2005. Retrospective birth dating of cells in humans. Cell 122:133-143.
-
(2005)
Cell
, vol.122
, pp. 133-143
-
-
Spalding, K.L.1
Bhardwaj, R.D.2
Buchholz, B.A.3
Druid, H.4
Frisén, J.5
-
113
-
-
42649103998
-
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
-
Spassky N, Han YG, Aguilar A, Strehl L, Besse L, Laclef C, Romaguera Ros M, Garcia-Verdugo JM, Alvarez-Buylla A. 2008. Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev Biol 317:246-259.
-
(2008)
Dev Biol
, vol.317
, pp. 246-259
-
-
Spassky, N.1
Han, Y.G.2
Aguilar, A.3
Strehl, L.4
Besse, L.5
Laclef, C.6
Romaguera Ros, M.7
Garcia-Verdugo, J.M.8
Alvarez-Buylla, A.9
-
114
-
-
0033544724
-
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
-
Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NGJ, Raams A, Byrd PJ, Petrini JHJ, Taylor AMR. 1999. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99:577-587.
-
(1999)
Cell
, vol.99
, pp. 577-587
-
-
Stewart, G.S.1
Maser, R.S.2
Stankovic, T.3
Bressan, D.A.4
Kaplan, M.I.5
Jaspers, N.G.J.6
Raams, A.7
Byrd, P.J.8
Petrini, J.H.J.9
Taylor, A.M.R.10
-
115
-
-
84875989545
-
Deficiency in origin licensing proteins impairs cilia formation: Implications for the aetiology of Meier-Gorlin syndrome
-
Stiff T, Alagoz M, Alcantara A, Outwin E, Brunner HG, Bongers EMHF, O'Driscoll M, Jeggo PA. 2013. Deficiency in origin licensing proteins impairs cilia formation: Implications for the aetiology of Meier-Gorlin syndrome. PLoS Genet 9:e1003360.
-
(2013)
PLoS Genet
, vol.9
-
-
Stiff, T.1
Alagoz, M.2
Alcantara, A.3
Outwin, E.4
Brunner, H.G.5
Bongers, E.M.H.F.6
O'Driscoll, M.7
Jeggo, P.A.8
-
116
-
-
38049184488
-
Profiling of UV-induced ATM/ATR signaling pathways
-
Stokes MP, Rush J, MacNeill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ. 2007. Profiling of UV-induced ATM/ATR signaling pathways. Proc Natl Acad Sci USA 104:19855-19860.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 19855-19860
-
-
Stokes, M.P.1
Rush, J.2
MacNeill, J.3
Ren, J.M.4
Sprott, K.5
Nardone, J.6
Yang, V.7
Beausoleil, S.A.8
Gygi, S.P.9
Livingstone, M.10
Zhang, H.11
Polakiewicz, R.D.12
Comb, M.J.13
-
117
-
-
80755187806
-
Double-strand break end resection and repair pathway choice
-
Symington LS, Gautier J. 2011. Double-strand break end resection and repair pathway choice. Annu Rev Genet 45:247-271.
-
(2011)
Annu Rev Genet
, vol.45
, pp. 247-271
-
-
Symington, L.S.1
Gautier, J.2
-
118
-
-
84886297061
-
Neocortical neurogenesis and neuronal migration
-
Tan X, Shi S-H. 2013. Neocortical neurogenesis and neuronal migration. Wiley Interdiscip Rev Dev Biol 2:443-459.
-
(2013)
Wiley Interdiscip Rev Dev Biol
, vol.2
, pp. 443-459
-
-
Tan, X.1
Shi, S.-H.2
-
119
-
-
70350228242
-
Primary microcephaly: Do all roads lead to Rome
-
Thornton GK, Woods CG. 2009. Primary microcephaly: Do all roads lead to Rome? Trends Genet 25:501-510.
-
(2009)
Trends Genet
, vol.25
, pp. 501-510
-
-
Thornton, G.K.1
Woods, C.G.2
-
120
-
-
61749104245
-
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining
-
van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari P-O, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJM, van Gent DC. 2009. A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest 119:91-98.
-
(2009)
J Clin Invest
, vol.119
, pp. 91-98
-
-
van der Burg, M.1
Ijspeert, H.2
Verkaik, N.S.3
Turul, T.4
Wiegant, W.W.5
Morotomi-Yano, K.6
Mari, P.-O.7
Tezcan, I.8
Chen, D.J.9
Zdzienicka, M.Z.10
van Dongen, J.J.M.11
van Gent, D.C.12
-
121
-
-
76049096485
-
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1
-
van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP. 2010. Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am J Hum Genet 86:262-266.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 262-266
-
-
van der Lelij, P.1
Chrzanowska, K.H.2
Godthelp, B.C.3
Rooimans, M.A.4
Oostra, A.B.5
Stumm, M.6
Zdzienicka, M.Z.7
Joenje, H.8
de Winter, J.P.9
-
122
-
-
0032076190
-
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
-
Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CMR, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. 1998. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467-476.
-
(1998)
Cell
, vol.93
, pp. 467-476
-
-
Varon, R.1
Vissinga, C.2
Platzer, M.3
Cerosaletti, K.M.4
Chrzanowska, K.H.5
Saar, K.6
Beckmann, G.7
Seemanova, E.8
Cooper, P.R.9
Nowak, N.J.10
Stumm, M.11
Weemaes, C.M.R.12
Gatti, R.A.13
Wilson, R.K.14
Digweed, M.15
Rosenthal, A.16
Sperling, K.17
Concannon, P.18
Reis, A.19
-
123
-
-
84978163741
-
Primary Autosomal recessive microcephalies and Seckel syndrome spectrum disorders
-
In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. Seattle, WA: University of Washington. PMID20301771.
-
Verloes A, Drunat S, Gressens P, Passemard S. 2013. Primary Autosomal recessive microcephalies and Seckel syndrome spectrum disorders. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews[R]. Seattle, WA: University of Washington. PMID20301771.
-
(2013)
GeneReviews[R]
-
-
Verloes, A.1
Drunat, S.2
Gressens, P.3
Passemard, S.4
-
125
-
-
65149095154
-
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder
-
Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T. 2009. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet 84:605-616.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 605-616
-
-
Waltes, R.1
Kalb, R.2
Gatei, M.3
Kijas, A.W.4
Stumm, M.5
Sobeck, A.6
Wieland, B.7
Varon, R.8
Lerenthal, Y.9
Lavin, M.F.10
Schindler, D.11
Dörk, T.12
-
126
-
-
84881025265
-
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
-
Weedon MN, Ellard S, Prindle MJ, Caswell R, Allen HL, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. 2013. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet 45:947-950.
-
(2013)
Nat Genet
, vol.45
, pp. 947-950
-
-
Weedon, M.N.1
Ellard, S.2
Prindle, M.J.3
Caswell, R.4
Allen, H.L.5
Oram, R.6
Godbole, K.7
Yajnik, C.S.8
Sbraccia, P.9
Novelli, G.10
Turnpenny, P.11
McCann, E.12
Goh, K.J.13
Wang, Y.14
Fulford, J.15
McCulloch, L.J.16
Savage, D.B.17
O'Rahilly, S.18
Kos, K.19
Loeb, L.A.20
Semple, R.K.21
Hattersley, A.T.22
more..
-
127
-
-
79955663428
-
Tidying up loose ends: The role of polynucleotide kinase/phosphatase in DNA strand break repair
-
Weinfeld M, Mani RS, Abdou I, Aceytuno RD, Glover JNM. 2011. Tidying up loose ends: The role of polynucleotide kinase/phosphatase in DNA strand break repair. Trends Biochem Sci 36:262-271.
-
(2011)
Trends Biochem Sci
, vol.36
, pp. 262-271
-
-
Weinfeld, M.1
Mani, R.S.2
Abdou, I.3
Aceytuno, R.D.4
Glover, J.N.M.5
-
128
-
-
84879655395
-
PRKDC mutations in a SCID patient with profound neurological abnormalities
-
Woodbine L, Neal JA, Sasi N-K, Shimada M, Deem K, Coleman H, Dobyns WB, Ogi T, Meek K, Davies EG, Jeggo PA. 2013. PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest 123:2969-2980.
-
(2013)
J Clin Invest
, vol.123
, pp. 2969-2980
-
-
Woodbine, L.1
Neal, J.A.2
Sasi, N.-K.3
Shimada, M.4
Deem, K.5
Coleman, H.6
Dobyns, W.B.7
Ogi, T.8
Meek, K.9
Davies, E.G.10
Jeggo, P.A.11
-
129
-
-
84883099931
-
Investigating microcephaly
-
Woods CG, Parker A. 2013. Investigating microcephaly. Arch Dis Child 98:707-713.
-
(2013)
Arch Dis Child
, vol.98
, pp. 707-713
-
-
Woods, C.G.1
Parker, A.2
-
130
-
-
84959228443
-
The dynamics of neuronal migration
-
In: Nguyen L, Hippenmeyer S, editors. Houten (Utrecht), Netherlands: Springer.
-
Wu Q, Liu J, Fang A, Li R, Bai Y, Kriegstein A, Wang X. 2014. The dynamics of neuronal migration. In: Nguyen L, Hippenmeyer S, editors. Cellular and molecular control of neuronal migration. Houten (Utrecht), Netherlands: Springer. pp 25-36.
-
(2014)
Cellular and molecular control of neuronal migration
, pp. 25-36
-
-
Wu, Q.1
Liu, J.2
Fang, A.3
Li, R.4
Bai, Y.5
Kriegstein, A.6
Wang, X.7
-
131
-
-
3343008017
-
Mitosis-specific Anchoring of γ tubulin complexes by pericentrin controls spindle organization and mitotic entry
-
Zimmerman WC, Sillibourne J, Rosa J, Doxsey SJ. 2004. Mitosis-specific Anchoring of γ tubulin complexes by pericentrin controls spindle organization and mitotic entry. Mol Biol Cell 15:3642-3657.
-
(2004)
Mol Biol Cell
, vol.15
, pp. 3642-3657
-
-
Zimmerman, W.C.1
Sillibourne, J.2
Rosa, J.3
Doxsey, S.J.4
|