Robert D Nicholls

Robert D Nicholls

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Robert D Nicholls

Robert D Nicholls

Publications by authors named "Robert D Nicholls"

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

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

Hum Mol Genet 2015 Jun 26;24(11):3238-47. Epub 2015 Feb 26.

Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15224, USA

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http://dx.doi.org/10.1093/hmg/ddv074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424958PMC
June 2015

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

Mamm Genome 2013 Jun 23;24(5-6):165-78. Epub 2013 Apr 23.

Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL, USA.

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http://link.springer.com/10.1007/s00335-013-9454-2
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http://dx.doi.org/10.1007/s00335-013-9454-2DOI Listing
June 2013

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

PLoS One 2012 4;7(5):e36505. Epub 2012 May 4.

Birth Defects Laboratories, Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0036505PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3344893PMC
September 2012

In vivo evolution of tumor-derived endothelial cells.

PLoS One 2012 18;7(5):e37138. Epub 2012 May 18.

Division of Hematology/Oncology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0037138PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356387PMC
September 2012

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

Am J Physiol Endocrinol Metab 2011 May 22;300(5):E909-22. Epub 2011 Feb 22.

Dept. of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Rangos Research Bldg., 4401 Penn Ave., Pittsburgh, PA 15224, USA.

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http://dx.doi.org/10.1152/ajpendo.00185.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3093973PMC
May 2011

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

Hum Mol Genet 2010 Apr 6;19(7):1153-64. Epub 2010 Jan 6.

Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA.

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http://dx.doi.org/10.1093/hmg/ddp585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838533PMC
April 2010

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

J Clin Invest 2008 Jun;118(6):2316-24

Department of Pediatrics, Children's Hospital of Philadelphia, Department of Medicine, and Institute for Diabetes, Obesity, and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1172/JCI33655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373422PMC
June 2008

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

PLoS Genet 2006 Oct;2(10):e182

Australian Research Council Center for Kangaroo Genomics and Research School of Biological Sciences, Australian National University, Canberra, Australia.

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http://dx.doi.org/10.1371/journal.pgen.0020182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1626109PMC
October 2006

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

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

Wadsworth Center, David Axelrod Institute, Albany, NY 12208, USA.

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http://dx.doi.org/10.1073/pnas.0602216103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1567693PMC
August 2006

The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors.

Nucleic Acids Res 2006 25;34(4):1205-15. Epub 2006 Feb 25.

Program in Genetics & Molecular Biology and Department of Biochemistry, Emory University School of Medicine, 1510 Clifton Road, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1093/nar/gkj521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1383620PMC
March 2006

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

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

Department of Biochemistry and Molecular Biology, University of Florida College of Medicine Gainesville, FL 32610, USA.

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http://dx.doi.org/10.1093/nar/gki786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1188517PMC
September 2005

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

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

Department of Genetics, Stanford University, Stanford, California 94305, USA.

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http://dx.doi.org/10.1007/s00335-005-2460-2DOI Listing
June 2005

A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.

Genomics 2005 May;85(5):630-40

Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania, 415 Curie Boulevard, Philadelphia, PA 19104-6140, USA.

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http://dx.doi.org/10.1016/j.ygeno.2005.02.004DOI Listing
May 2005

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

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

Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104-6140, USA.

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http://dx.doi.org/10.1086/428438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196395PMC
March 2005

Cellular source of the poxviral N1R/p28 gene family.

Virus Genes 2004 Dec;29(3):359-64

Center for Neurobiology and Behavior, Department of Psychiatry, CRB528, University of Pennsylvania, 415 Curie Blvd, PA 19104-6140, USA.

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http://dx.doi.org/10.1007/s11262-004-7440-1DOI Listing
December 2004

Physical mapping of the pink-eyed dilution complex in mouse chromosome 7 shows that Atp10c is the only transcript between Gabrb3 and Ube3a.

DNA Seq 2004 Aug;15(4):306-9

318 Jessie Harris Building, Department of Nutrition, University of Tennessee, 1215 Cumberland Avenue, Knoxville, TN 37996, USA.

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http://dx.doi.org/10.1080/10425170412331279855DOI Listing
August 2004

What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity?

Curr Diab Rep 2004 Apr;4(2):143-50

Department of Psychiatry, University of Pennsylvania, Clinical Research Building, Room 528, 415 Curie Boulevard, Philadelphia, PA 19104-6140, USA.

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http://dx.doi.org/10.1007/s11892-004-0070-0DOI Listing
April 2004

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Am J Hum Genet 2003 Oct 23;73(4):967-71. Epub 2003 Sep 23.

Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297076364
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180617PMC
http://dx.doi.org/10.1086/378817DOI Listing
October 2003

2002 Curt Stern Award address. Introductory speech for James R. Lupski.

Am J Hum Genet 2003 Feb;72(2):244-5

Center for Neurobiology and Behavior, Departments of Psychiatry and Genetics, University of Pennsylvania, Philadelphia, PA 19104-6140, USA .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379219PMC
http://dx.doi.org/10.1086/346216DOI Listing
February 2003

Anorexigenic melanocortin signaling in the hypothalamus is augmented in association with failure-to-thrive in a transgenic mouse model for Prader-Willi syndrome.

Brain Res 2002 Dec;957(1):42-5

University of Florida McKnight Brain Institute, College of Medicine, Department of Neuroscience, PO Box 100244, Gainesville, FL 32610, USA.

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http://dx.doi.org/10.1016/s0006-8993(02)03583-7DOI Listing
December 2002