Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 154

1.

The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.

Pucilowska J, Vithayathil J, Tavares EJ, Kelly C, Karlo JC, Landreth GE.

J Neurosci. 2015 Feb 18;35(7):3190-200. doi: 10.1523/JNEUROSCI.4864-13.2015.

2.
3.

Pharmacological Inhibition of ERK Signaling Rescues Pathophysiology and Behavioral Phenotype Associated with 16p11.2 Chromosomal Deletion in Mice.

Pucilowska J, Vithayathil J, Pagani M, Kelly C, Karlo JC, Robol C, Morella I, Gozzi A, Brambilla R, Landreth GE.

J Neurosci. 2018 Jul 25;38(30):6640-6652. doi: 10.1523/JNEUROSCI.0515-17.2018. Epub 2018 Jun 22.

PMID:
29934348
4.

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.

Horev G, Ellegood J, Lerch JP, Son YE, Muthuswamy L, Vogel H, Krieger AM, Buja A, Henkelman RM, Wigler M, Mills AA.

Proc Natl Acad Sci U S A. 2011 Oct 11;108(41):17076-81. doi: 10.1073/pnas.1114042108. Epub 2011 Oct 3.

5.

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.

Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium, Yalcin B, Katsanis N, Golzio C, Reymond A.

Am J Hum Genet. 2017 Oct 5;101(4):564-577. doi: 10.1016/j.ajhg.2017.08.016. Epub 2017 Sep 28.

6.
7.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME.

Am J Hum Genet. 2014 Jun 5;94(6):870-83. doi: 10.1016/j.ajhg.2014.05.004.

8.

Dentate Gyrus Development Requires ERK Activity to Maintain Progenitor Population and MAPK Pathway Feedback Regulation.

Vithayathil J, Pucilowska J, Goodnough LH, Atit RP, Landreth GE.

J Neurosci. 2015 Apr 29;35(17):6836-48. doi: 10.1523/JNEUROSCI.4196-14.2015.

9.

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.

Portmann T, Yang M, Mao R, Panagiotakos G, Ellegood J, Dolen G, Bader PL, Grueter BA, Goold C, Fisher E, Clifford K, Rengarajan P, Kalikhman D, Loureiro D, Saw NL, Zhengqui Z, Miller MA, Lerch JP, Henkelman M, Shamloo M, Malenka RC, Crawley JN, Dolmetsch RE.

Cell Rep. 2014 May 22;7(4):1077-1092. doi: 10.1016/j.celrep.2014.03.036. Epub 2014 May 1.

10.

Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome.

Meechan DW, Tucker ES, Maynard TM, LaMantia AS.

Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16434-45. doi: 10.1073/pnas.0905696106. Epub 2009 Sep 10.

11.

Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion.

Tian D, Stoppel LJ, Heynen AJ, Lindemann L, Jaeschke G, Mills AA, Bear MF.

Nat Neurosci. 2015 Feb;18(2):182-4. doi: 10.1038/nn.3911. Epub 2015 Jan 12.

12.

Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub.

Blizinsky KD, Diaz-Castro B, Forrest MP, Schürmann B, Bach AP, Martin-de-Saavedra MD, Wang L, Csernansky JG, Duan J, Penzes P.

Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):8520-5. doi: 10.1073/pnas.1607014113. Epub 2016 Jul 11.

13.

Aberrant white matter microstructure in children with 16p11.2 deletions.

Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P; Simons VIP Consortium.

J Neurosci. 2014 Apr 30;34(18):6214-23. doi: 10.1523/JNEUROSCI.4495-13.2014.

14.

Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases.

Lin GN, Corominas R, Lemmens I, Yang X, Tavernier J, Hill DE, Vidal M, Sebat J, Iakoucheva LM.

Neuron. 2015 Feb 18;85(4):742-54. doi: 10.1016/j.neuron.2015.01.010.

15.

Up-regulation of Ras/Raf/ERK1/2 signaling impairs cultured neuronal cell migration, neurogenesis, synapse formation, and dendritic spine development.

Yang K, Cao F, Sheikh AM, Malik M, Wen G, Wei H, Ted Brown W, Li X.

Brain Struct Funct. 2013 May;218(3):669-82. doi: 10.1007/s00429-012-0420-7. Epub 2012 May 5.

PMID:
22555958
16.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C.

Eur J Hum Genet. 2012 May;20(5):540-6. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11. Erratum in: Eur J Hum Genet. 2012 May;20(5):594.

17.

Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism.

Angelakos CC, Watson AJ, O'Brien WT, Krainock KS, Nickl-Jockschat T, Abel T.

Autism Res. 2017 Apr;10(4):572-584. doi: 10.1002/aur.1707. Epub 2016 Oct 14.

PMID:
27739237
18.

16p11.2 Locus modulates response to satiety before the onset of obesity.

Maillard AM, Hippolyte L, Rodriguez-Herreros B, Chawner SJ, Dremmel D, Agüera Z, Fagundo AB, Pain A, Martin-Brevet S, Hilbert A, Kurz S, Etienne R, Draganski B, Jimenez-Murcia S, Männik K, Metspalu A, Reigo A, Isidor B, Le Caignec C, David A, Mignot C, Keren B; 16p11.2 European Consortium, van den Bree MB, Munsch S, Fernandez-Aranda F, Beckmann JS, Reymond A, Jacquemont S.

Int J Obes (Lond). 2016 May;40(5):870-6. doi: 10.1038/ijo.2015.247. Epub 2015 Dec 1.

PMID:
26620891
19.

Kctd13 deletion reduces synaptic transmission via increased RhoA.

Escamilla CO, Filonova I, Walker AK, Xuan ZX, Holehonnur R, Espinosa F, Liu S, Thyme SB, López-García IA, Mendoza DB, Usui N, Ellegood J, Eisch AJ, Konopka G, Lerch JP, Schier AF, Speed HE, Powell CM.

Nature. 2017 Nov 9;551(7679):227-231. doi: 10.1038/nature24470. Epub 2017 Nov 1.

PMID:
29088697
20.

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

Arbogast T, Ouagazzal AM, Chevalier C, Kopanitsa M, Afinowi N, Migliavacca E, Cowling BS, Birling MC, Champy MF, Reymond A, Herault Y.

PLoS Genet. 2016 Feb 12;12(2):e1005709. doi: 10.1371/journal.pgen.1005709. eCollection 2016 Feb.

Supplemental Content

Support Center