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Items: 1 to 20 of 130

1.

Functional evolution of IGF2:IGF2R domain 11 binding generates novel structural interactions and a specific IGF2 antagonist.

Frago S, Nicholls RD, Strickland M, Hughes J, Williams C, Garner L, Surakhy M, Maclean R, Rezgui D, Prince SN, Zaccheo OJ, Ebner D, Sanegre S, Yu S, Buffa FM, Crump MP, Hassan AB.

Proc Natl Acad Sci U S A. 2016 May 17;113(20):E2766-75. doi: 10.1073/pnas.1513023113. Epub 2016 May 2.

2.

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J.

Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26.

3.

Recommendations for the investigation of animal models of Prader-Willi syndrome.

Resnick JL, Nicholls RD, Wevrick R; Prader-Willi Syndrome Animal Models Working Group.

Mamm Genome. 2013 Jun;24(5-6):165-78. doi: 10.1007/s00335-013-9454-2. Epub 2013 Apr 23.

PMID:
23609791
4.

In vivo evolution of tumor-derived endothelial cells.

McGuire TF, Sajithlal GB, Lu J, Nicholls RD, Prochownik EV.

PLoS One. 2012;7(5):e37138. doi: 10.1371/journal.pone.0037138. Epub 2012 May 18.

5.

Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.

Henson BJ, Zhu W, Hardaway K, Wetzel JL, Stefan M, Albers KM, Nicholls RD.

PLoS One. 2012;7(5):e36505. doi: 10.1371/journal.pone.0036505. Epub 2012 May 4.

6.

Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome.

Stefan M, Simmons RA, Bertera S, Trucco M, Esni F, Drain P, Nicholls RD.

Am J Physiol Endocrinol Metab. 2011 May;300(5):E909-22. doi: 10.1152/ajpendo.00185.2010. Epub 2011 Feb 22.

7.

The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing.

Kishore S, Khanna A, Zhang Z, Hui J, Balwierz PJ, Stefan M, Beach C, Nicholls RD, Zavolan M, Stamm S.

Hum Mol Genet. 2010 Apr 1;19(7):1153-64. doi: 10.1093/hmg/ddp585. Epub 2010 Jan 6.

8.

Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1.

Park JH, Stoffers DA, Nicholls RD, Simmons RA.

J Clin Invest. 2008 Jun;118(6):2316-24. doi: 10.1172/JCI33655.

9.

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J.

Am J Hum Genet. 2007 Jul;81(1):87-103. Epub 2007 Jun 4.

10.

Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences.

Mikkelsen TS, Wakefield MJ, Aken B, Amemiya CT, Chang JL, Duke S, Garber M, Gentles AJ, Goodstadt L, Heger A, Jurka J, Kamal M, Mauceli E, Searle SM, Sharpe T, Baker ML, Batzer MA, Benos PV, Belov K, Clamp M, Cook A, Cuff J, Das R, Davidow L, Deakin JE, Fazzari MJ, Glass JL, Grabherr M, Greally JM, Gu W, Hore TA, Huttley GA, Kleber M, Jirtle RL, Koina E, Lee JT, Mahony S, Marra MA, Miller RD, Nicholls RD, Oda M, Papenfuss AT, Parra ZE, Pollock DD, Ray DA, Schein JE, Speed TP, Thompson K, VandeBerg JL, Wade CM, Walker JA, Waters PD, Webber C, Weidman JR, Xie X, Zody MC; Broad Institute Genome Sequencing Platform; Broad Institute Whole Genome Assembly Team, Graves JA, Ponting CP, Breen M, Samollow PB, Lander ES, Lindblad-Toh K.

Nature. 2007 May 10;447(7141):167-77.

PMID:
17495919
11.

Recent assembly of an imprinted domain from non-imprinted components.

Rapkins RW, Hore T, Smithwick M, Ager E, Pask AJ, Renfree MB, Kohn M, Hameister H, Nicholls RD, Deakin JE, Graves JA.

PLoS Genet. 2006 Oct;2(10):e182.

12.

The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans.

Gray TA, Wilson A, Fortin PJ, Nicholls RD.

Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):12039-44. Epub 2006 Aug 1.

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15.

Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.

Rodriguez-Jato S, Nicholls RD, Driscoll DJ, Yang TP.

Nucleic Acids Res. 2005 Aug 22;33(15):4740-53. Print 2005.

16.

Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models.

Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U.

Mamm Genome. 2005 Jun;16(6):424-31.

PMID:
16075369
17.

Hormonal and metabolic defects in a prader-willi syndrome mouse model with neonatal failure to thrive.

Stefan M, Ji H, Simmons RA, Cummings DE, Ahima RS, Friedman MI, Nicholls RD.

Endocrinology. 2005 Oct;146(10):4377-85. Epub 2005 Jul 7.

PMID:
16002520
19.

Possible genomic imprinting of three human obesity-related genetic loci.

Dong C, Li WD, Geller F, Lei L, Li D, Gorlova OY, Hebebrand J, Amos CI, Nicholls RD, Price RA.

Am J Hum Genet. 2005 Mar;76(3):427-37. Epub 2005 Jan 12.

20.

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