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DUF1220-domain copy number implicated in human brain-size pathology and evolution.

Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM.

Am J Hum Genet. 2012 Sep 7;91(3):444-54. doi: 10.1016/j.ajhg.2012.07.016. Epub 2012 Aug 16.


Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.

O'Bleness M, Searles VB, Dickens CM, Astling D, Albracht D, Mak AC, Lai YY, Lin C, Chu C, Graves T, Kwok PY, Wilson RK, Sikela JM.

BMC Genomics. 2014 May 20;15:387. doi: 10.1186/1471-2164-15-387.


DUF1220 domains, cognitive disease, and human brain evolution.

Dumas L, Sikela JM.

Cold Spring Harb Symp Quant Biol. 2009;74:375-82. doi: 10.1101/sqb.2009.74.025. Epub 2009 Oct 22. Review.


DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores.

Davis JM, Searles VB, Anderson N, Keeney J, Raznahan A, Horwood LJ, Fergusson DM, Kennedy MA, Giedd J, Sikela JM.

Hum Genet. 2015 Jan;134(1):67-75. doi: 10.1007/s00439-014-1489-2. Epub 2014 Oct 7.


DUF1220 protein domains drive proliferation in human neural stem cells and are associated with increased cortical volume in anthropoid primates.

Keeney JG, Davis JM, Siegenthaler J, Post MD, Nielsen BS, Hopkins WD, Sikela JM.

Brain Struct Funct. 2015 Sep;220(5):3053-60. doi: 10.1007/s00429-014-0814-9. Epub 2014 Jun 25.


Evolutionary history and genome organization of DUF1220 protein domains.

O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ, Sikela JM.

G3 (Bethesda). 2012 Sep;2(9):977-86. doi: 10.1534/g3.112.003061. Epub 2012 Sep 1.


The case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansion.

Keeney JG, Dumas L, Sikela JM.

Front Hum Neurosci. 2014 Jun 24;8:427. doi: 10.3389/fnhum.2014.00427. eCollection 2014.


Generation of mice lacking DUF1220 protein domains: effects on fecundity and hyperactivity.

Keeney JG, O'Bleness MS, Anderson N, Davis JM, Arevalo N, Busquet N, Chick W, Rozman J, Hölter SM, Garrett L, Horsch M; German Mouse Clinic Consortium, Beckers J, Wurst W, Klingenspor M, Restrepo D, de Angelis MH, Sikela JM.

Mamm Genome. 2015 Feb;26(1-2):33-42. doi: 10.1007/s00335-014-9545-8. Epub 2014 Oct 12.


DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism.

Davis JM, Searles VB, Anderson N, Keeney J, Dumas L, Sikela JM.

PLoS Genet. 2014 Mar 20;10(3):e1004241. doi: 10.1371/journal.pgen.1004241. eCollection 2014 Mar. Erratum in: PLoS Genet. 2014 Apr;10(4):e1004373.


DUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseases.

Searles Quick VB, Davis JM, Olincy A, Sikela JM.

Transl Psychiatry. 2015 Dec 15;5:e697. doi: 10.1038/tp.2015.192. Erratum in: Transl Psychiatry. 2016;6:e735.


Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A.

Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279.


Replicated linear association between DUF1220 copy number and severity of social impairment in autism.

Davis JM, Searles Quick VB, Sikela JM.

Hum Genet. 2015 Jun;134(6):569-75. doi: 10.1007/s00439-015-1537-6. Epub 2015 Mar 11.


Phylogenetic Analysis Supports a Link between DUF1220 Domain Number and Primate Brain Expansion.

Zimmer F, Montgomery SH.

Genome Biol Evol. 2015 Jun 25;7(8):2083-8. doi: 10.1093/gbe/evv122.


Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium.

Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11.


Understanding the impact of 1q21.1 copy number variant.

Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E.

Orphanet J Rare Dis. 2011 Aug 8;6:54. doi: 10.1186/1750-1172-6-54.


Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains.

Popesco MC, Maclaren EJ, Hopkins J, Dumas L, Cox M, Meltesen L, McGavran L, Wyckoff GJ, Sikela JM.

Science. 2006 Sep 1;313(5791):1304-7.


Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.

Nebel RA, Kirschen J, Cai J, Woo YJ, Cherian K, Abrahams BS.

PLoS One. 2015 Jun 15;10(6):e0129270. doi: 10.1371/journal.pone.0129270. eCollection 2015.


Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.

Milone R, Valetto A, Battini R, Bertini V, Valvo G, Cioni G, Sicca F.

Eur J Med Genet. 2016 May;59(5):278-82. doi: 10.1016/j.ejmg.2016.03.003. Epub 2016 Mar 11.


Frequent copy number gains at 1q21 and 1q32 are associated with overexpression of the ETS transcription factors ETV3 and ELF3 in breast cancer irrespective of molecular subtypes.

Mesquita B, Lopes P, Rodrigues A, Pereira D, Afonso M, Leal C, Henrique R, Lind GE, Jerónimo C, Lothe RA, Teixeira MR.

Breast Cancer Res Treat. 2013 Feb;138(1):37-45. doi: 10.1007/s10549-013-2408-2. Epub 2013 Jan 18.


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