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Items: 1 to 20 of 98

1.

Function and regulation of AUTS2, a gene implicated in autism and human evolution.

Oksenberg N, Stevison L, Wall JD, Ahituv N.

PLoS Genet. 2013;9(1):e1003221. doi: 10.1371/journal.pgen.1003221. Epub 2013 Jan 17.

2.

The role of AUTS2 in neurodevelopment and human evolution.

Oksenberg N, Ahituv N.

Trends Genet. 2013 Oct;29(10):600-8. doi: 10.1016/j.tig.2013.08.001. Epub 2013 Sep 2. Review.

3.

Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.

Oksenberg N, Haliburton GD, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, Ahituv N.

Transl Psychiatry. 2014 Sep 2;4:e431. doi: 10.1038/tp.2014.78.

4.

Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.

Bedogni F, Hodge RD, Nelson BR, Frederick EA, Shiba N, Daza RA, Hevner RF.

Gene Expr Patterns. 2010 Jan;10(1):9-15. doi: 10.1016/j.gep.2009.11.005. Epub 2009 Dec 3.

5.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA.

Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17.

6.

Functional characterization of SIM1-associated enhancers.

Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N.

Hum Mol Genet. 2014 Apr 1;23(7):1700-8. doi: 10.1093/hmg/ddt559. Epub 2013 Nov 7.

7.

Comparative functional genomics revealed conservation and diversification of three enhancers of the isl1 gene for motor and sensory neuron-specific expression.

Uemura O, Okada Y, Ando H, Guedj M, Higashijima S, Shimazaki T, Chino N, Okano H, Okamoto H.

Dev Biol. 2005 Feb 15;278(2):587-606.

8.

Zebrafish enhancer detection (ZED) vector: a new tool to facilitate transgenesis and the functional analysis of cis-regulatory regions in zebrafish.

Bessa J, Tena JJ, de la Calle-Mustienes E, Fernández-Miñán A, Naranjo S, Fernández A, Montoliu L, Akalin A, Lenhard B, Casares F, Gómez-Skarmeta JL.

Dev Dyn. 2009 Sep;238(9):2409-17. doi: 10.1002/dvdy.22051.

9.

Cis-acting elements responsible for dopaminergic neuron-specific expression of zebrafish slc6a3 (dopamine transporter) in vivo are located remote from the transcriptional start site.

Bai Q, Burton EA.

Neuroscience. 2009 Dec 15;164(3):1138-51. doi: 10.1016/j.neuroscience.2009.09.014. Epub 2009 Sep 12.

PMID:
19755139
10.

Transcriptional Complexity and Distinct Expression Patterns of auts2 Paralogs in Danio rerio.

Kondrychyn I, Robra L, Thirumalai V.

G3 (Bethesda). 2017 Jun 16. pii: g3.117.042622. doi: 10.1534/g3.117.042622. [Epub ahead of print]

11.

Differences in enhancer activity in mouse and zebrafish reporter assays are often associated with changes in gene expression.

Ariza-Cosano A, Visel A, Pennacchio LA, Fraser HB, Gómez-Skarmeta JL, Irimia M, Bessa J.

BMC Genomics. 2012 Dec 19;13:713. doi: 10.1186/1471-2164-13-713.

12.

De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.

Amarillo IE, Li WL, Li X, Vilain E, Kantarci S.

Am J Med Genet A. 2014 Apr;164A(4):958-65. doi: 10.1002/ajmg.a.36393. Epub 2014 Jan 23.

PMID:
24459036
13.

A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos.

Bhatia S, Monahan J, Ravi V, Gautier P, Murdoch E, Brenner S, van Heyningen V, Venkatesh B, Kleinjan DA.

Dev Biol. 2014 Mar 15;387(2):214-28. doi: 10.1016/j.ydbio.2014.01.007. Epub 2014 Jan 17.

14.

De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.

Liu Y, Zhao D, Dong R, Yang X, Zhang Y, Tammimies K, Uddin M, Scherer SW, Gai Z.

Am J Med Genet A. 2015 Jun;167(6):1381-5. doi: 10.1002/ajmg.a.37050. Epub 2015 Apr 6.

PMID:
25851617
15.

Enhancer turnover and conserved regulatory function in vertebrate evolution.

Domené S, Bumaschny VF, de Souza FS, Franchini LF, Nasif S, Low MJ, Rubinstein M.

Philos Trans R Soc Lond B Biol Sci. 2013 Nov 11;368(1632):20130027. doi: 10.1098/rstb.2013.0027. Print 2013 Dec 19.

16.

Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions.

Rosin JM, Abassah-Oppong S, Cobb J.

Hum Mol Genet. 2013 Aug 1;22(15):3063-76. doi: 10.1093/hmg/ddt163. Epub 2013 Apr 10.

PMID:
23575226
17.

Three enhancer regions regulate gbx2 gene expression in the isthmic region during zebrafish development.

Islam ME, Kikuta H, Inoue F, Kanai M, Kawakami A, Parvin MS, Takeda H, Yamasu K.

Mech Dev. 2006 Dec;123(12):907-24. Epub 2006 Aug 30.

18.

Coding exons function as tissue-specific enhancers of nearby genes.

Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N.

Genome Res. 2012 Jun;22(6):1059-68. doi: 10.1101/gr.133546.111. Epub 2012 Mar 22.

19.

Conserved and non-conserved enhancers direct tissue specific transcription in ancient germ layer specific developmental control genes.

Chatterjee S, Bourque G, Lufkin T.

BMC Dev Biol. 2011 Oct 20;11:63. doi: 10.1186/1471-213X-11-63.

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