-
1
-
-
84857189905
-
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
-
Braunholz D, Hullings M, Gil-Rodriguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. 2012. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. EJHG 20:271-276.
-
(2012)
EJHG
, vol.20
, pp. 271-276
-
-
Braunholz, D.1
Hullings, M.2
Gil-Rodriguez, M.C.3
Fincher, C.T.4
Mallozzi, M.B.5
Loy, E.6
Albrecht, M.7
Kaur, M.8
Limon, J.9
Rampuria, A.10
Clark, D.11
Kline, A.12
Dalski, A.13
Eckhold, J.14
Tzschach, A.15
Hennekam, R.16
Gillessen-Kaesbach, G.17
Wierzba, J.18
Krantz, I.D.19
Deardorff, M.A.20
Kaiser, F.J.21
more..
-
2
-
-
0034057170
-
Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis
-
Chai Y, Jiang X, Ito Y, Bringas P Jr, Han J, Rowitch DH, Soriano P, McMahon AP, Sucov HM. 2000. Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development 127:1671-1679.
-
(2000)
Development
, vol.127
, pp. 1671-1679
-
-
Chai, Y.1
Jiang, X.2
Ito, Y.3
Bringas Jr, P.4
Han, J.5
Rowitch, D.H.6
Soriano, P.7
McMahon, A.P.8
Sucov, H.M.9
-
3
-
-
0033859660
-
Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins
-
Ciosk R, Shirayama M, Shevchenko A, Tanaka T, Toth A, Shevchenko A, Nasmyth K. 2000. Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins. Mol Cell 5:243-254.
-
(2000)
Mol Cell
, vol.5
, pp. 243-254
-
-
Ciosk, R.1
Shirayama, M.2
Shevchenko, A.3
Tanaka, T.4
Toth, A.5
Shevchenko, A.6
Nasmyth, K.7
-
4
-
-
0038177392
-
Optimized vector for conditional gene targeting in mouse embryonic stem cells
-
1140.
-
Conrad M, Brielmeier M, Wurst W, Bornkamm GW. 2003. Optimized vector for conditional gene targeting in mouse embryonic stem cells. Biotechniques 34:1136-1138, 1140.
-
(2003)
Biotechniques
, vol.34
, pp. 1136-1138
-
-
Conrad, M.1
Brielmeier, M.2
Wurst, W.3
Bornkamm, G.W.4
-
5
-
-
0032481124
-
Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase
-
Danielian PS, Muccino D, Rowitch DH, Michael SK, McMahon AP. 1998. Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase. Curr Biol 8:1323-1326.
-
(1998)
Curr Biol
, vol.8
, pp. 1323-1326
-
-
Danielian, P.S.1
Muccino, D.2
Rowitch, D.H.3
Michael, S.K.4
McMahon, A.P.5
-
6
-
-
0011041950
-
Craniofacial development
-
Rossant J, Tam PPL, editors. San Diego: Academic Press.
-
Depew MJ, Tucker AS, Sharpe PT. 2002. Craniofacial development. In: Rossant J, Tam PPL, editors. Mouse development. San Diego: Academic Press. pp 421-498.
-
(2002)
Mouse development
, pp. 421-498
-
-
Depew, M.J.1
Tucker, A.S.2
Sharpe, P.T.3
-
7
-
-
63049139061
-
Cohesin, gene expression and development: Lessons from Drosophila
-
Dorsett D. 2009. Cohesin, gene expression and development: Lessons from Drosophila. Chromosome Res 217:185-200.
-
(2009)
Chromosome Res
, vol.217
, pp. 185-200
-
-
Dorsett, D.1
-
8
-
-
84879208137
-
Cohesin at active genes: A unifying theme for cohesin and gene expression from model organisms to humans
-
Dorsett D, Merkenschlager M. 2013. Cohesin at active genes: A unifying theme for cohesin and gene expression from model organisms to humans. Curr Opin Cell Biol 25:327-333.
-
(2013)
Curr Opin Cell Biol
, vol.25
, pp. 327-333
-
-
Dorsett, D.1
Merkenschlager, M.2
-
9
-
-
84888134367
-
Multiple structural maintenance of chromosome complexes at transcriptional regulatory elements
-
Dowen JM, Bilodeau S, Orlando DA, Hübner MR, Abraham BJ, Spector DL, Young RA. 2013. Multiple structural maintenance of chromosome complexes at transcriptional regulatory elements. Stem Cell Rep 24:371-378.
-
(2013)
Stem Cell Rep
, vol.24
, pp. 371-378
-
-
Dowen, J.M.1
Bilodeau, S.2
Orlando, D.A.3
Hübner, M.R.4
Abraham, B.J.5
Spector, D.L.6
Young, R.A.7
-
10
-
-
0029954688
-
Flp recombinase promotes site-specific DNA recombination in embryonic stem cells and transgenic mice
-
Dymecki SM. 1996. Flp recombinase promotes site-specific DNA recombination in embryonic stem cells and transgenic mice. Proc Natl Acad Sci USA 93:6191-6196.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 6191-6196
-
-
Dymecki, S.M.1
-
11
-
-
4644280172
-
Scc2 couples replication licensing to sister chromatid cohesion in Xenopus egg extracts
-
Gillespie PJ, Hirano T. 2004. Scc2 couples replication licensing to sister chromatid cohesion in Xenopus egg extracts. Curr Biol 14:1598-1603.
-
(2004)
Curr Biol
, vol.14
, pp. 1598-1603
-
-
Gillespie, P.J.1
Hirano, T.2
-
12
-
-
56649123545
-
The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications
-
Jahnke P, Xu W, Wülling M, Albrecht M, Gabriel H, Gillessen-Kaesbach G, Kaiser FJ. 2008. The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications. Nucleic Acids Res 36:6450-6458.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 6450-6458
-
-
Jahnke, P.1
Xu, W.2
Wülling, M.3
Albrecht, M.4
Gabriel, H.5
Gillessen-Kaesbach, G.6
Kaiser, F.J.7
-
13
-
-
77957139539
-
Mediator and cohesin connect gene expression and chromatin architecture
-
Kagey MH, Newman JJ, Bilodeau S, Zhan Y, Orlando DA, van Berkum NL, Ebmeier CC, Goossens J, Rahl PB, Levine SS, Taatjes DJ, Dekker J, Young RA. 2010. Mediator and cohesin connect gene expression and chromatin architecture. Nature 467:430-435.
-
(2010)
Nature
, vol.467
, pp. 430-435
-
-
Kagey, M.H.1
Newman, J.J.2
Bilodeau, S.3
Zhan, Y.4
Orlando, D.A.5
van Berkum, N.L.6
Ebmeier, C.C.7
Goossens, J.8
Rahl, P.B.9
Levine, S.S.10
Taatjes, D.J.11
Dekker, J.12
Young, R.A.13
-
14
-
-
70349690201
-
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome
-
Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD. 2009. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genetics 5:e1000650.
-
(2009)
PLoS Genetics
, vol.5
-
-
Kawauchi, S.1
Calof, A.L.2
Santos, R.3
Lopez-Burks, M.E.4
Young, C.M.5
Hoang, M.P.6
Chua, A.7
Lao, T.8
Lechner, M.S.9
Daniel, J.A.10
Nussenzweig, A.11
Kitzes, L.12
Yokomori, K.13
Hallgrimsson, B.14
Lander, A.D.15
-
15
-
-
28744434916
-
Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia
-
Kist R, Watson M, Wang X, Cairns P, Miles C, Reid DJ, Peters H. 2005. Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia. Hum Mol Genet 14:3605-3617.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3605-3617
-
-
Kist, R.1
Watson, M.2
Wang, X.3
Cairns, P.4
Miles, C.5
Reid, D.J.6
Peters, H.7
-
16
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-635.
-
(2004)
Nat Genet
, vol.36
, pp. 631-635
-
-
Krantz, I.D.1
McCallum, J.2
DeScipio, C.3
Kaur, M.4
Gillis, L.A.5
Yaeger, D.6
Jukofsky, L.7
Wasserman, N.8
Bottani, A.9
Morris, C.A.10
Nowaczyk, M.J.11
Toriello, H.12
Bamshad, M.J.13
Carey, J.C.14
Rappaport, E.15
Kawauchi, S.16
Lander, A.D.17
Calof, A.L.18
Li, H.H.19
Devoto, M.20
Jackson, L.G.21
more..
-
17
-
-
80055027655
-
Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome
-
Muto A, Calof AL, Lander AD, Schilling TF. 2011. Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biol 9:e1001181.
-
(2011)
PLoS Biol
, vol.9
-
-
Muto, A.1
Calof, A.L.2
Lander, A.D.3
Schilling, T.F.4
-
18
-
-
73349127026
-
Cohesin: Its roles and mechanisms
-
Nasmyth K, Haering CH. 2009. Cohesin: Its roles and mechanisms. Annu Rev Genet 43:525-558.
-
(2009)
Annu Rev Genet
, vol.43
, pp. 525-558
-
-
Nasmyth, K.1
Haering, C.H.2
-
19
-
-
0031660707
-
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor
-
Pusch C, Hustert E, Pfeifer D, Sudbeck P, Kist R, Roe B, Wang Z, Balling R, Blin N, Scherer G. 1998. The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. Hum Genet 103:115-123.
-
(1998)
Hum Genet
, vol.103
, pp. 115-123
-
-
Pusch, C.1
Hustert, E.2
Pfeifer, D.3
Sudbeck, P.4
Kist, R.5
Roe, B.6
Wang, Z.7
Balling, R.8
Blin, N.9
Scherer, G.10
-
20
-
-
77954105200
-
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
-
Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. 2010. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A 152:1641-1653.
-
(2010)
Am J Med Genet A
, vol.152
, pp. 1641-1653
-
-
Rohatgi, S.1
Clark, D.2
Kline, A.D.3
Jackson, L.G.4
Pie, J.5
Siu, V.6
Ramos, F.J.7
Krantz, I.D.8
Deardorff, M.A.9
-
21
-
-
0027318791
-
Differential expression of multiple fork head related genes during gastrulation and axial pattern formation in the mouse embryo
-
Sasaki H, Hogan BL. 1993. Differential expression of multiple fork head related genes during gastrulation and axial pattern formation in the mouse embryo. Development 118:47-59.
-
(1993)
Development
, vol.118
, pp. 47-59
-
-
Sasaki, H.1
Hogan, B.L.2
-
22
-
-
33747368147
-
Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance
-
doi: 10.1371/journal.pbio.0040242.
-
Seitan VC, Banks P, Laval S, Majid NA, Dorsett D, Rana A, Smith J, Bateman A, Krpic S, Hostert A, Rollins RA, Erdjument-Bromage H, Tempst P, Benard CY, Hekimi S, Newbury SF, Strachan T. 2006. Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. PLOS Biol 4:e242. doi: 10.1371/journal.pbio.0040242.
-
(2006)
PLOS Biol
, vol.4
-
-
Seitan, V.C.1
Banks, P.2
Laval, S.3
Majid, N.A.4
Dorsett, D.5
Rana, A.6
Smith, J.7
Bateman, A.8
Krpic, S.9
Hostert, A.10
Rollins, R.A.11
Erdjument-Bromage, H.12
Tempst, P.13
Benard, C.Y.14
Hekimi, S.15
Newbury, S.F.16
Strachan, T.17
-
23
-
-
0032923739
-
Generalized lacZ expression with the ROSA26 Cre reporter strain
-
Soriano P. 1999. Generalized lacZ expression with the ROSA26 Cre reporter strain. Nat Genet 21:70-71.
-
(1999)
Nat Genet
, vol.21
, pp. 70-71
-
-
Soriano, P.1
-
24
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
-
Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636-641.
-
(2004)
Nat Genet
, vol.36
, pp. 636-641
-
-
Tonkin, E.T.1
Wang, T.J.2
Lisgo, S.3
Bamshad, M.J.4
Strachan, T.5
-
25
-
-
33646199189
-
Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression
-
Watrin E, Schleiffer A, Tanaka K, Eisenhaber F, Nasmyth K, Peters JM. 2006. Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression. Curr Biol 16:863-874.
-
(2006)
Curr Biol
, vol.16
, pp. 863-874
-
-
Watrin, E.1
Schleiffer, A.2
Tanaka, K.3
Eisenhaber, F.4
Nasmyth, K.5
Peters, J.M.6
|