-
1
-
-
67651036860
-
Aneuploidy: From a physiological mechanism of variance to Down syndrome
-
Dierssen, M., Herault, Y., Estivill, X. Aneuploidy: from a physiological mechanism of variance to Down syndrome. Physiol Rev 89, 887-920 (2009).
-
(2009)
Physiol Rev
, vol.89
, pp. 887-920
-
-
Dierssen, M.1
Herault, Y.2
Estivill, X.3
-
2
-
-
84944449884
-
Dissecting Alzheimer disease in Down syndrome using mouse models
-
Choong, X. Y., Tosh, J. L., Pulford, L. J., Fisher, E. M. Dissecting Alzheimer disease in Down syndrome using mouse models. Front Behav Neurosci 9, 268 (2015).
-
(2015)
Front Behav Neurosci
, vol.9
, pp. 268
-
-
Choong, X.Y.1
Tosh, J.L.2
Pulford, L.J.3
Fisher, E.M.4
-
3
-
-
84958554874
-
Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel
-
Lana-Elola, E., et al. Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel. Elife 5 (2016).
-
(2016)
Elife
, vol.5
-
-
Lana-Elola, E.1
-
4
-
-
84926306807
-
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region
-
Brault, V., et al. Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. PLoS Genet 11, e1005062 (2015).
-
(2015)
PLoS Genet
, vol.11
, pp. 1005062
-
-
Brault, V.1
-
5
-
-
84948992427
-
Genetic dissection of the Down syndrome critical region
-
Jiang, X., et al. Genetic dissection of the Down syndrome critical region. Hum Mol Genet (2015).
-
(2015)
Hum Mol Genet
-
-
Jiang, X.1
-
6
-
-
7444231620
-
A chromosome 21 critical region does not cause specific Down syndrome phenotypes
-
Olson, L. E., Richtsmeier, J. T., Leszl, J., Reeves, R. H. A chromosome 21 critical region does not cause specific Down syndrome phenotypes. Science 306, 687-690 (2004).
-
(2004)
Science
, vol.306
, pp. 687-690
-
-
Olson, L.E.1
Richtsmeier, J.T.2
Leszl, J.3
Reeves, R.H.4
-
7
-
-
1842717955
-
Automated whole-genome multiple alignment of rat, mouse, human
-
Brudno, M., et al. Automated whole-genome multiple alignment of rat, mouse, human. Genome Res 14, 685-692 (2004).
-
(2004)
Genome Res
, vol.14
, pp. 685-692
-
-
Brudno, M.1
-
8
-
-
6344222248
-
Human, mouse, rat genome large-scale rearrangements: Stability versus speciation
-
Zhao, S., et al. Human, mouse, rat genome large-scale rearrangements: stability versus speciation. Genome Res 14, 1851-1860 (2004).
-
(2004)
Genome Res
, vol.14
, pp. 1851-1860
-
-
Zhao, S.1
-
9
-
-
2942589207
-
Insights from the rat genome sequence
-
Mullins, L. J., Mullins, J. J. Insights from the rat genome sequence. Genome Biol 5, 221 (2004).
-
(2004)
Genome Biol
, vol.5
, pp. 221
-
-
Mullins, L.J.1
Mullins, J.J.2
-
10
-
-
84884191657
-
Rat Genome Database: A unique resource for rat, human, mouse quantitative trait locus data
-
Nigam, R., et al. Rat Genome Database: a unique resource for rat, human, mouse quantitative trait locus data. Physiol Genomics 45, 809-816 (2013).
-
(2013)
Physiol Genomics
, vol.45
, pp. 809-816
-
-
Nigam, R.1
-
11
-
-
84892466245
-
Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndromerelated developmental cognitive deficits
-
Zhang, L., et al. Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndromerelated developmental cognitive deficits. Hum Mol Genet 23, 578-589 (2014).
-
(2014)
Hum Mol Genet
, vol.23
, pp. 578-589
-
-
Zhang, L.1
-
12
-
-
33746659123
-
Modeling chromosomes in mouse to explore the function of genes, genomic disorders, chromosomal organization
-
Brault, V., Pereira, P., Duchon, A., Herault, Y. Modeling chromosomes in mouse to explore the function of genes, genomic disorders, chromosomal organization. PLoS Genet 2, e86 (2006).
-
(2006)
PLoS Genet
, vol.2
, pp. e86
-
-
Brault, V.1
Pereira, P.2
Duchon, A.3
Herault, Y.4
-
13
-
-
33846924815
-
Cre/loxP-mediated chromosome engineering of the mouse genome
-
Brault, V., Besson, V., Magnol, L., Duchon, A., Herault, Y. Cre/loxP-mediated chromosome engineering of the mouse genome. Handb Exp Pharmacol 178, 29-48 (2007).
-
(2007)
Handb Exp Pharmacol
, vol.178
, pp. 29-48
-
-
Brault, V.1
Besson, V.2
Magnol, L.3
Duchon, A.4
Herault, Y.5
-
14
-
-
0031770816
-
Engineering chromosomes in mice through targeted meiotic recombination (TAMERE)
-
Herault, Y., Rassoulzadegan, M., Cuzin, F., Duboule, D. Engineering chromosomes in mice through targeted meiotic recombination (TAMERE). Nat Genet 20, 381-384 (1998).
-
(1998)
Nat Genet
, vol.20
, pp. 381-384
-
-
Herault, Y.1
Rassoulzadegan, M.2
Cuzin, F.3
Duboule, D.4
-
15
-
-
0029562967
-
Chromosome engineering in mice
-
Ramirez-Solis, R., Liu, P., Bradley, A. Chromosome engineering in mice. Nature 378, 720-724 (1995).
-
(1995)
Nature
, vol.378
, pp. 720-724
-
-
Ramirez-Solis, R.1
Liu, P.2
Bradley, A.3
-
16
-
-
0033152654
-
A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice
-
Zheng, B., Mills, A. A., Bradley, A. A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice. Nucleic Acids Res 27, 2354-2360 (1999).
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 2354-2360
-
-
Zheng, B.1
Mills, A.A.2
Bradley, A.3
-
17
-
-
3543035792
-
Mutagenic insertion and chromosome engineering resource (MICER)
-
Adams, D. J., et al. Mutagenic insertion and chromosome engineering resource (MICER). Nat Genet 36, 867-871 (2004).
-
(2004)
Nat Genet
, vol.36
, pp. 867-871
-
-
Adams, D.J.1
-
18
-
-
79953176250
-
Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor
-
Ruf, S., et al. Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor. Nature Genetics 43, 379-386 (2011).
-
(2011)
Nature Genetics
, vol.43
, pp. 379-386
-
-
Ruf, S.1
-
19
-
-
23044477774
-
Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes
-
Spitz, F., Herkenne, C., Morris, M. A., Duboule, D. Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. Nat Genet 37, 889-893 (2005).
-
(2005)
Nat Genet
, vol.37
, pp. 889-893
-
-
Spitz, F.1
Herkenne, C.2
Morris, M.A.3
Duboule, D.4
-
20
-
-
84938932957
-
Efficient inversions and duplications of mammalian regulatory DNA elements and gene clusters by CRISPR/Cas9
-
Li, J., et al. Efficient inversions and duplications of mammalian regulatory DNA elements and gene clusters by CRISPR/Cas9. J Mol Cell Biol 7, 284-298 (2015).
-
(2015)
J Mol Cell Biol
, vol.7
, pp. 284-298
-
-
Li, J.1
-
21
-
-
84949211352
-
Large genomic fragment deletion and functional gene cassette knock-in via Cas9 protein mediated genome editing in one-cell rodent embryos
-
Wang, L., et al. Large genomic fragment deletion and functional gene cassette knock-in via Cas9 protein mediated genome editing in one-cell rodent embryos. Scientific Reports 5, 17517 (2015).
-
(2015)
Scientific Reports
, vol.5
, pp. 17517
-
-
Wang, L.1
-
22
-
-
84925679860
-
Large genomic fragment deletions and insertions in mouse using CRISPR/Cas9
-
Zhang, L., et al. Large genomic fragment deletions and insertions in mouse using CRISPR/Cas9. PLoS One 10, e0120396 (2015).
-
(2015)
PLoS One
, vol.10
, pp. 0120396
-
-
Zhang, L.1
-
23
-
-
84923384373
-
Deletions, inversions, duplications: Engineering of structural variants using CRISPR/Cas in Mice
-
833-339
-
Kraft, K., et al. Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Rep 10, 833-339 (2015).
-
(2015)
Cell Rep
, vol.10
-
-
Kraft, K.1
-
24
-
-
84959375643
-
Chromosome engineering in zygotes with CRISPR/Cas9
-
Boroviak, K., Doe, B., Banerjee, R., Yang, F., Bradley, A. Chromosome engineering in zygotes with CRISPR/Cas9. Genesis 54, 78-85 (2016).
-
(2016)
Genesis
, vol.54
, pp. 78-85
-
-
Boroviak, K.1
Doe, B.2
Banerjee, R.3
Yang, F.4
Bradley, A.5
-
25
-
-
70450161234
-
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome
-
Lopes Pereira, P., et al. A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Hum Mol Genet 18, 4756-4769 (2009).
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4756-4769
-
-
Lopes Pereira, P.1
-
26
-
-
79251627273
-
Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice
-
Yu, T., et al. Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice. Brain Research 1366, 162-171 (2010).
-
(2010)
Brain Research
, vol.1366
, pp. 162-171
-
-
Yu, T.1
-
27
-
-
0028937163
-
Mice deficient in cystathionine beta-synthase: Animal models for mild and severe homocyst(e)inemia
-
Watanabe, M., et al. Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia. Proc Natl Acad Sci USA 92, 1585-1589 (1995).
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 1585-1589
-
-
Watanabe, M.1
-
28
-
-
84893373889
-
Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans
-
De la Torre, R., et al. Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans. Mol Nutr Food Res 58, 278-288 (2014).
-
(2014)
Mol Nutr Food Res
, vol.58
, pp. 278-288
-
-
De La Torre, R.1
-
29
-
-
84959187568
-
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
-
Luco, S. M., et al. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. BMC Med Genet 17, 15 (2016).
-
(2016)
BMC Med Genet
, vol.17
, pp. 15
-
-
Luco, S.M.1
-
30
-
-
84944351589
-
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
-
Bronicki, L. M., et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet 23, 1482-1487 (2015).
-
(2015)
Eur J Hum Genet
, vol.23
, pp. 1482-1487
-
-
Bronicki, L.M.1
-
31
-
-
84951908030
-
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
-
van Bon, B. W., et al. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Mol Psychiatry 21, 26-32 (2016).
-
(2016)
Mol Psychiatry
, vol.21
, pp. 26-32
-
-
Van Bon, B.W.1
-
32
-
-
43049162678
-
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
-
Møller, R. S., et al. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet 82, 1165-1170 (2008).
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1165-1170
-
-
Møller, R.S.1
-
33
-
-
84858156775
-
DYRK1A: A master regulatory protein controlling brain growth
-
Guedj, F., et al. DYRK1A: a master regulatory protein controlling brain growth. Neurobiol Dis 46, 190-203 (2012).
-
(2012)
Neurobiol Dis
, vol.46
, pp. 190-203
-
-
Guedj, F.1
-
34
-
-
0035445736
-
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
-
Altafaj, X., et al. Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum Mol Genet 10, 1915-1923 (2001).
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1915-1923
-
-
Altafaj, X.1
-
35
-
-
0036724569
-
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice
-
Fotaki, V., et al. Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Mol Cell Biol 22, 6636-6647 (2002).
-
(2002)
Mol Cell Biol
, vol.22
, pp. 6636-6647
-
-
Fotaki, V.1
-
36
-
-
24044530911
-
Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/mouse
-
Benavides-Piccione, R., et al. Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/? mouse. Neurobiol Dis 20, 115-122 (2005).
-
(2005)
Neurobiol Dis
, vol.20
, pp. 115-122
-
-
Benavides-Piccione, R.1
-
37
-
-
3242816217
-
Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity
-
Fotaki, V., Martinez De Lagran, M., Estivill, X., Arbones, M., Dierssen, M. Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity. Behav Neurosci 118, 815-821 (2004).
-
(2004)
Behav Neurosci
, vol.118
, pp. 815-821
-
-
Fotaki, V.1
Martinez De Lagran, M.2
Estivill, X.3
Arbones, M.4
Dierssen, M.5
-
38
-
-
49749143326
-
Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A)
-
Arque, G., et al. Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A). PLoS One 3, e2575 (2008).
-
(2008)
PLoS One
, vol.3
, pp. 2575
-
-
Arque, G.1
-
39
-
-
34447331007
-
Duplication of the entire 22, 9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities
-
Li, Z., et al. Duplication of the entire 22. 9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities. Hum Mol Genet 16, 1359-1366 (2007).
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1359-1366
-
-
Li, Z.1
-
40
-
-
84881287170
-
HMGN1 modulates nucleosome occupancy and DNase i hypersensitivity at the CpG island promoters of embryonic stem cells
-
Deng, T., et al. HMGN1 modulates nucleosome occupancy and DNase I hypersensitivity at the CpG island promoters of embryonic stem cells. Mol Cell Biol 33, 3377-3389 (2013).
-
(2013)
Mol Cell Biol
, vol.33
, pp. 3377-3389
-
-
Deng, T.1
-
41
-
-
84901651797
-
Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation
-
Lane, A. A., et al. Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation. Nat Genet 46, 618-623 (2014).
-
(2014)
Nat Genet
, vol.46
, pp. 618-623
-
-
Lane, A.A.1
-
42
-
-
0037142034
-
Mice deficient in the Rac activator Tiam1 are resistant to Ras-induced skin tumours
-
Malliri, A., et al. Mice deficient in the Rac activator Tiam1 are resistant to Ras-induced skin tumours. Nature 417, 867-871 (2002).
-
(2002)
Nature
, vol.417
, pp. 867-871
-
-
Malliri, A.1
-
43
-
-
22144447520
-
Loss of Runx1 perturbs adult hematopoiesis and is associated with a myeloproliferative phenotype
-
Growney, J. D., et al. Loss of Runx1 perturbs adult hematopoiesis and is associated with a myeloproliferative phenotype. Blood 106, 494-504 (2005).
-
(2005)
Blood
, vol.106
, pp. 494-504
-
-
Growney, J.D.1
-
44
-
-
34347337601
-
Toward simpler and faster genome-wide mutagenesis in mice
-
Wu, S., Ying, G., Wu, Q., Capecchi, M. R. Toward simpler and faster genome-wide mutagenesis in mice. Nat Genet 39, 922-930 (2007).
-
(2007)
Nat Genet
, vol.39
, pp. 922-930
-
-
Wu, S.1
Ying, G.2
Wu, Q.3
Capecchi, M.R.4
-
45
-
-
84863275797
-
Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases
-
Lee, H. J., Kweon, J., Kim, E., Kim, S., Kim, J. S. Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases. Genome Res 22, 539-548 (2012).
-
(2012)
Genome Res
, vol.22
, pp. 539-548
-
-
Lee, H.J.1
Kweon, J.2
Kim, E.3
Kim, S.4
Kim, J.S.5
-
46
-
-
84878731165
-
Targeted chromosomal deletions and inversions in zebrafish
-
Gupta, A., et al. Targeted chromosomal deletions and inversions in zebrafish. Genome Res 23, 1008-1017 (2013).
-
(2013)
Genome Res
, vol.23
, pp. 1008-1017
-
-
Gupta, A.1
-
47
-
-
55849107789
-
Tandemly arrayed genes in vertebrate genomes
-
Pan, D., Zhang, L. Tandemly arrayed genes in vertebrate genomes. Comp Funct Genomics, 545269 (2008).
-
(2008)
Comp Funct Genomics
, vol.545
, pp. 269
-
-
Pan, D.1
Zhang, L.2
-
48
-
-
56049084685
-
Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination
-
Duchon, A., Besson, V., Pereira, P. L., Magnol, L., Herault, Y. Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination. Genetics 180, 51-59 (2008).
-
(2008)
Genetics
, vol.180
, pp. 51-59
-
-
Duchon, A.1
Besson, V.2
Pereira, P.L.3
Magnol, L.4
Herault, Y.5
-
49
-
-
78650011254
-
Controlled somatic and germline copy number variation in the mouse model
-
Herault, Y., et al. Controlled somatic and germline copy number variation in the mouse model. Curr Genomics 11, 470-480 (2010).
-
(2010)
Curr Genomics
, vol.11
, pp. 470-480
-
-
Herault, Y.1
-
50
-
-
84959154058
-
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
-
Tai, D. J., et al. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci 17 517-522 (2016).
-
(2016)
Nat Neurosci
, vol.17
, pp. 517-522
-
-
Tai, D.J.1
|