-
1
-
-
70350517377
-
Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007
-
Kogan, M. D. et al. Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics 124, 1395-1403 (2009).
-
(2009)
Pediatrics
, vol.124
, pp. 1395-1403
-
-
Kogan, M.D.1
-
2
-
-
0025997752
-
Complex segregation analysis of autism
-
Jorde, L. B. et al. Complex segregation analysis of autism. Am. J. Hum. Genet. 49, 932-938 (1991).
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 932-938
-
-
Jorde, L.B.1
-
3
-
-
42349095075
-
Advances in autism genetics: On the threshold of a new neurobiology
-
Abrahams, B. S. & Geschwind, D. H. Advances in autism genetics: on the threshold of a new neurobiology. Nature Rev. Genet. 9, 341-355 (2008).
-
(2008)
Nature Rev. Genet.
, vol.9
, pp. 341-355
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
4
-
-
84892799819
-
The role of de novo mutations in the genetics of autism spectrum disorders
-
Ronemus, M., Iossifov, I., Levy, D. & Wigler, M. The role of de novo mutations in the genetics of autism spectrum disorders. Nature Rev. Genet. 15, 133-141 (2014).
-
(2014)
Nature Rev. Genet.
, vol.15
, pp. 133-141
-
-
Ronemus, M.1
Iossifov, I.2
Levy, D.3
Wigler, M.4
-
5
-
-
0014439351
-
Genetics of common disorders
-
Carter, C. O. Genetics of common disorders. Br. Med. Bull. 25, 52-57 (1969).
-
(1969)
Br. Med. Bull.
, vol.25
, pp. 52-57
-
-
Carter, C.O.1
-
6
-
-
84899568579
-
2013 William Allan Award: My multifactorial journey
-
Chakravarti, A. 2013 William Allan Award: my multifactorial journey. Am. J. Hum. Genet. 94, 326-333 (2014).
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 326-333
-
-
Chakravarti, A.1
-
7
-
-
77955081986
-
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
-
Emison, E. S. et al. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am. J. Hum. Genet. 87, 60-74 (2010).
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 60-74
-
-
Emison, E.S.1
-
8
-
-
65649091684
-
δ-Catenin regulates spine and synapse morphogenesis and function in hippocampal neurons during development
-
Arikkath, J. et al. δ-Catenin regulates spine and synapse morphogenesis and function in hippocampal neurons during development. J. Neurosci. 29, 5435-5442 (2009).
-
(2009)
J. Neurosci.
, vol.29
, pp. 5435-5442
-
-
Arikkath, J.1
-
9
-
-
77955349622
-
δ-Catenin/NPRAP: A new member of the glycogen synthase kinase-3β signaling complex that promotes β-catenin turnover in neurons
-
Bareiss, S., Kim, K. & Lu, Q. δ-Catenin/NPRAP: a new member of the glycogen synthase kinase-3β signaling complex that promotes β-catenin turnover in neurons. J. Neurosci. Res. 88, 2350-2363 (2010).
-
(2010)
J. Neurosci. Res.
, vol.88
, pp. 2350-2363
-
-
Bareiss, S.1
Kim, K.2
Lu, Q.3
-
10
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
Weiss, L. A., Arking, D. E., Daly, M. J. & Chakravarti, A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461, 802-808 (2009).
-
(2009)
Nature
, vol.461
, pp. 802-808
-
-
Weiss, L.A.1
Arking, D.E.2
Daly, M.J.3
Chakravarti, A.4
-
11
-
-
84860347597
-
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
-
Talkowski, M. E. et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 149, 525-537 (2012).
-
(2012)
Cell
, vol.149
, pp. 525-537
-
-
Talkowski, M.E.1
-
12
-
-
0036148208
-
Wnt/β-catenin/Tcf signaling induces the transcription of Axin2, a negative regulator of the signaling pathway
-
Jho, E. H. et al. Wnt/β-catenin/Tcf signaling induces the transcription of Axin2, a negative regulator of the signaling pathway. Mol. Cell. Biol. 22, 1172-1183 (2002).
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 1172-1183
-
-
Jho, E.H.1
-
13
-
-
0031056175
-
Graded amounts of Xenopus dishevelled specify discrete anteroposterior cell fates in prospective ectoderm
-
Itoh, K. & Sokol, S. Y. Graded amounts of Xenopus dishevelled specify discrete anteroposterior cell fates in prospective ectoderm. Mech. Dev. 61, 113-125 (1997).
-
(1997)
Mech. Dev.
, vol.61
, pp. 113-125
-
-
Itoh, K.1
Sokol, S.Y.2
-
14
-
-
11144358277
-
Genetic evidence for involvement of maternally derived Wnt canonical signaling in dorsal determination in zebrafish
-
Nojima, H. et al. Genetic evidence for involvement of maternally derived Wnt canonical signaling in dorsal determination in zebrafish. Mech. Dev. 121, 371-386 (2004).
-
(2004)
Mech. Dev.
, vol.121
, pp. 371-386
-
-
Nojima, H.1
-
15
-
-
0033535058
-
δ-Catenin, an adhesive junction-associated protein which promotes cell scattering
-
Lu, Q. et al. δ-Catenin, an adhesive junction-associated protein which promotes cell scattering. J. Cell Biol. 144, 519-532 (1999).
-
(1999)
J. Cell Biol.
, vol.144
, pp. 519-532
-
-
Lu, Q.1
-
16
-
-
79951960867
-
Dendritic spine pathology in neuropsychiatric disorders
-
Penzes, P., Cahill, M. E., Jones, K. A., VanLeeuwen, J. E. & Woolfrey, K. M. Dendritic spine pathology in neuropsychiatric disorders. Nature Neurosci. 14, 285-293 (2011).
-
(2011)
Nature Neurosci.
, vol.14
, pp. 285-293
-
-
Penzes, P.1
Cahill, M.E.2
Jones, K.A.3
VanLeeuwen, J.E.4
Woolfrey, K.M.5
-
17
-
-
38149124120
-
δ-Catenin-induced dendritic morphogenesis. An essential role of p190RhoGEF interaction through Akt1-mediated phosphorylation
-
Kim, H. et al. δ-Catenin-induced dendritic morphogenesis. An essential role of p190RhoGEF interaction through Akt1-mediated phosphorylation. J. Biol. Chem. 283, 977-987 (2008).
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 977-987
-
-
Kim, H.1
-
18
-
-
4544246530
-
Deletion of the neuron-specific protein δ-catenin leads to severe cognitive and synaptic dysfunction
-
Israely, I. et al. Deletion of the neuron-specific protein δ-catenin leads to severe cognitive and synaptic dysfunction. Curr. Biol. 14, 1657-1663 (2004).
-
(2004)
Curr. Biol.
, vol.14
, pp. 1657-1663
-
-
Israely, I.1
-
19
-
-
70350780459
-
δ-Catenin is required for the maintenance of neural structure and function in mature cortex in vivo
-
Matter, C., Pribadi, M., Liu, X. & Trachtenberg, J. T. δ-Catenin is required for the maintenance of neural structure and function in mature cortex in vivo. Neuron 64, 320-327 (2009).
-
(2009)
Neuron
, vol.64
, pp. 320-327
-
-
Matter, C.1
Pribadi, M.2
Liu, X.3
Trachtenberg, J.T.4
-
20
-
-
57749118872
-
A δ-catenin signaling pathway leading to dendritic protrusions
-
Abu-Elneel, K. et al. A δ-catenin signaling pathway leading to dendritic protrusions. J. Biol. Chem. 283, 32781-32791 (2008).
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 32781-32791
-
-
Abu-Elneel, K.1
-
21
-
-
83155178493
-
Expression of δ-catenin is associated with progression of human astrocytoma
-
Wang, M., Dong, Q., Zhang, D. & Wang, Y. Expression of δ-catenin is associated with progression of human astrocytoma. BMC Cancer 11, 514 (2011).
-
(2011)
BMC Cancer
, vol.11
, pp. 514
-
-
Wang, M.1
Dong, Q.2
Zhang, D.3
Wang, Y.4
-
22
-
-
3542993236
-
Regulation of the rapsyn promoter by kaiso and δ-catenin
-
Rodova, M., Kelly, K. F., VanSaun, M., Daniel, J. M. & Werle, M. J. Regulation of the rapsyn promoter by kaiso and δ-catenin. Mol. Cell. Biol. 24, 7188-7196 (2004).
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 7188-7196
-
-
Rodova, M.1
Kelly, K.F.2
VanSaun, M.3
Daniel, J.M.4
Werle, M.J.5
-
23
-
-
10344261485
-
Non-canonical Wnt signals are modulated by the Kaiso transcriptional repressor and p120-catenin
-
Kim, S. W. et al. Non-canonical Wnt signals are modulated by the Kaiso transcriptional repressor and p120-catenin. Nature Cell Biol. 6, 1212-1220 (2004).
-
(2004)
Nature Cell Biol.
, vol.6
, pp. 1212-1220
-
-
Kim, S.W.1
-
24
-
-
81855211125
-
A nuclear function for the presenilin 1 neuronal partner NPRAP/δ-catenin
-
Koutras, C., Lessard, C. B. & Levesque, G. A nuclear function for the presenilin 1 neuronal partner NPRAP/δ-catenin. J. Alzheimer's Dis. 27, 307-316 (2011).
-
(2011)
J. Alzheimer's Dis.
, vol.27
, pp. 307-316
-
-
Koutras, C.1
Lessard, C.B.2
Levesque, G.3
-
25
-
-
77649186635
-
Isoform- and dose-sensitive feedback interactions between paired box 6 gene and δ-catenin in cell differentiation and death
-
Zhang, J. et al. Isoform- and dose-sensitive feedback interactions between paired box 6 gene and δ-catenin in cell differentiation and death. Exp. Cell Res. 316, 1070-1081 (2010).
-
(2010)
Exp. Cell Res.
, vol.316
, pp. 1070-1081
-
-
Zhang, J.1
-
26
-
-
78650974628
-
Evaluation of Pax6mutant rat as amodel for autism
-
Umeda, T. et al. Evaluation of Pax6mutant rat as amodel for autism. PLoS ONE 5, e15500 (2010).
-
(2010)
PLoS ONE
, vol.5
, pp. e15500
-
-
Umeda, T.1
-
27
-
-
42149176542
-
Pax6 3′ deletion results in aniridia, autismand mental retardation
-
Davis, L. K. et al. Pax6 3′ deletion results in aniridia, autismand mental retardation. Hum. Genet. 123, 371-378 (2008).
-
(2008)
Hum. Genet.
, vol.123
, pp. 371-378
-
-
Davis, L.K.1
-
28
-
-
33845391367
-
Pax6 is required for δ-catenin/neurojugin expression during retinal, cerebellar and cortical development in mice
-
Duparc, R. H., Boutemmine, D., Champagne, M. P., Tetreault, N. & Bernier, G. Pax6 is required for δ-catenin/neurojugin expression during retinal, cerebellar and cortical development in mice. Dev. Biol. 300, 647-655 (2006).
-
(2006)
Dev. Biol.
, vol.300
, pp. 647-655
-
-
Duparc, R.H.1
Boutemmine, D.2
Champagne, M.P.3
Tetreault, N.4
Bernier, G.5
-
29
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto, D. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368-372 (2010).
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
-
30
-
-
0034009881
-
Hemizygosity of δ-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome
-
Medina, M., Marinescu, R. C., Overhauser, J. & Kosik, K. S. Hemizygosity of δ-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 63, 157-164 (2000).
-
(2000)
Genomics
, vol.63
, pp. 157-164
-
-
Medina, M.1
Marinescu, R.C.2
Overhauser, J.3
Kosik, K.S.4
-
31
-
-
53049109352
-
Recurrent CNVs disrupt three candidate genes in schizophrenia patients
-
Vrijenhoek, T. et al. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am. J. Hum. Genet. 83, 504-510 (2008).
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 504-510
-
-
Vrijenhoek, T.1
-
32
-
-
0030788767
-
Presenilin 1 interaction in the brain with a novel member of the armadillo family
-
Zhou, J. et al. Presenilin 1 interaction in the brain with a novel member of the armadillo family. Neuroreport 8, 2085-2090 (1997).
-
(1997)
Neuroreport
, vol.8
, pp. 2085-2090
-
-
Zhou, J.1
-
33
-
-
4544277807
-
δ-catenin/NPRAP (neural plakophilin-related armadillo repeat protein) interacts with and activates sphingosine kinase 1
-
Fujita, T. et al. δ-catenin/NPRAP (neural plakophilin-related armadillo repeat protein) interacts with and activates sphingosine kinase 1. Biochem. J. 382, 717-723 (2004).
-
(2004)
Biochem. J.
, vol.382
, pp. 717-723
-
-
Fujita, T.1
-
34
-
-
0037810840
-
Dual regulation of neuronal morphogenesis by a δ-catenin-cortactin complex and Rho
-
Martinez, M. C., Ochiishi, T., Majewski, M. & Kosik, K. S. Dual regulation of neuronal morphogenesis by a δ-catenin-cortactin complex and Rho. J. Cell Biol. 162, 99-111 (2003).
-
(2003)
J. Cell Biol.
, vol.162
, pp. 99-111
-
-
Martinez, M.C.1
Ochiishi, T.2
Majewski, M.3
Kosik, K.S.4
-
35
-
-
34547909617
-
Synaptic anchorage of AMPA receptors by cadherins through neural plakophilin-related arm protein AMPA receptor-binding protein complexes
-
Silverman, J. B. et al. Synaptic anchorage of AMPA receptors by cadherins through neural plakophilin-related arm protein AMPA receptor-binding protein complexes. J. Neurosci. 27, 8505-8516 (2007).
-
(2007)
J. Neurosci.
, vol.27
, pp. 8505-8516
-
-
Silverman, J.B.1
-
36
-
-
0037066692
-
The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of δ-catenin and ARVCF
-
Laura, R. P. et al. The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of δ-catenin and ARVCF. J. Biol. Chem. 277, 12906-12914 (2002).
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 12906-12914
-
-
Laura, R.P.1
-
37
-
-
0036349738
-
Dendrite-like process formation and cytoskeletal remodeling regulated by δ-catenin expression
-
Kim, K. et al. Dendrite-like process formation and cytoskeletal remodeling regulated by δ-catenin expression. Exp. Cell Res. 275, 171-184 (2002).
-
(2002)
Exp. Cell Res.
, vol.275
, pp. 171-184
-
-
Kim, K.1
-
38
-
-
0032915423
-
The catenin p120(ctn) interacts with Kaiso, a novel BTB/POZ domain zinc finger transcription factor
-
Daniel, J. M. & Reynolds, A. B. The catenin p120(ctn) interacts with Kaiso, a novel BTB/POZ domain zinc finger transcription factor. Mol. Cell. Biol. 19, 3614-3623 (1999).
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 3614-3623
-
-
Daniel, J.M.1
Reynolds, A.B.2
-
39
-
-
0141638426
-
N-CoR mediates DNA methylation-dependent repression through a methyl CpG binding protein Kaiso
-
Yoon, H. G., Chan, D. W., Reynolds, A. B., Qin, J. & Wong, J. N-CoR mediates DNA methylation-dependent repression through a methyl CpG binding protein Kaiso. Mol. Cell 12, 723-734 (2003).
-
(2003)
Mol. Cell
, vol.12
, pp. 723-734
-
-
Yoon, H.G.1
Chan, D.W.2
Reynolds, A.B.3
Qin, J.4
Wong, J.5
-
40
-
-
84897401085
-
Palmitoylation of δ-catenin by DHHC5 mediates activity-induced synapse plasticity
-
Brigidi, G. S. et al. Palmitoylation of δ-catenin by DHHC5 mediates activity-induced synapse plasticity. Nature Neurosci. 17, 522-532 (2014).
-
(2014)
Nature Neurosci.
, vol.17
, pp. 522-532
-
-
Brigidi, G.S.1
-
41
-
-
84884215045
-
CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation
-
De Rubeis, S. et al. CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation. Neuron 79, 1169-1182 (2013).
-
(2013)
Neuron
, vol.79
, pp. 1169-1182
-
-
De Rubeis, S.1
-
42
-
-
79961197278
-
Class 5 transmembrane semaphorins control selective mammalian retinal lamination and function
-
Matsuoka, R. L. et al. Class 5 transmembrane semaphorins control selective mammalian retinal lamination and function. Neuron 71, 460-473 (2011).
-
(2011)
Neuron
, vol.71
, pp. 460-473
-
-
Matsuoka, R.L.1
-
43
-
-
84863440305
-
Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization
-
He, W. Z. et al. Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization. Chin. J. Med. Genet. 29, 266-269 (2012).
-
(2012)
Chin. J. Med. Genet.
, vol.29
, pp. 266-269
-
-
He, W.Z.1
-
44
-
-
15844364963
-
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH
-
Harvard, C. et al. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin. Genet. 67, 341-351 (2005).
-
(2005)
Clin. Genet.
, vol.67
, pp. 341-351
-
-
Harvard, C.1
-
45
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall, C. R. et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477-488 (2008).
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
-
46
-
-
70349662036
-
Phenomic determinants of genomic variation in autism spectrum disorders
-
Qiao, Y. et al. Phenomic determinants of genomic variation in autism spectrum disorders. J. Med. Genet. 46, 680-688 (2009).
-
(2009)
J. Med. Genet.
, vol.46
, pp. 680-688
-
-
Qiao, Y.1
-
47
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
-
Sanders, S. J. et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863-885 (2011).
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
-
48
-
-
84859009895
-
Rare structural variation of synapse and neurotransmission genes in autism
-
Gai, X. et al. Rare structural variation of synapse and neurotransmission genes in autism. Mol. Psychiatry 17, 402-411 (2012).
-
(2012)
Mol. Psychiatry
, vol.17
, pp. 402-411
-
-
Gai, X.1
|