David R Adams

David R Adams

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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Genet Med 2019 08 31;21(8):1772-1780. Epub 2019 Jan 31.

Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.

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http://www.nature.com/articles/s41436-019-0434-0
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http://dx.doi.org/10.1038/s41436-019-0434-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669106PMC
August 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 Jun 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning.

JMIR Med Inform 2019 May 10;7(2):e12596. Epub 2019 May 10.

Department of Computer Science, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.2196/12596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533869PMC
May 2019

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

PLoS Genet 2019 05 24;15(5):e1008143. Epub 2019 May 24.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1008143
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http://dx.doi.org/10.1371/journal.pgen.1008143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534290PMC
May 2019

Topographical Mapping of Isoform-Selectivity Determinants for J-Channel-Binding Inhibitors of Sphingosine Kinases 1 and 2.

J Med Chem 2019 Apr 27;62(7):3658-3676. Epub 2019 Mar 27.

Strathclyde Institute of Pharmacy and Biomedical Sciences , University of Strathclyde , Glasgow G4 0RE , U.K.

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http://dx.doi.org/10.1021/acs.jmedchem.9b00162DOI Listing
April 2019

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Mol Genet Metab 2019 02 3;126(2):188-195. Epub 2018 Dec 3.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.001DOI Listing
February 2019

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

N Engl J Med 2019 01;380(2):201

Baylor College of Medicine, Houston, TX

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http://dx.doi.org/10.1056/NEJMc1814955DOI Listing
January 2019

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

N Engl J Med 2018 Oct;379(14):1353-1362

From the Office of the Clinical Director, National Human Genome Research Institute, and the Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD (D.R.A.); and the Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics - both in Houston (C.M.E.).

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http://dx.doi.org/10.1056/NEJMra1711801DOI Listing
October 2018

Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.

Invest Ophthalmol Vis Sci 2018 10;59(12):4945-4952

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.16-20293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181301PMC
October 2018

Sphingosine 1-phosphate and cancer.

Adv Biol Regul 2018 05 15;68:97-106. Epub 2017 Sep 15.

Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, 161 Cathedral St, Glasgow, G4 0RE, Scotland, UK.

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http://dx.doi.org/10.1016/j.jbior.2017.09.006DOI Listing
May 2018

Sphingosine Kinases as Druggable Targets.

Handb Exp Pharmacol 2018 Feb 20. Epub 2018 Feb 20.

Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, Glasgow, Scotland, UK.

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http://dx.doi.org/10.1007/164_2018_96DOI Listing
February 2018

The Potential of a Novel Class of EPAC-Selective Agonists to Combat Cardiovascular Inflammation.

J Cardiovasc Dev Dis 2017 Dec 5;4(4). Epub 2017 Dec 5.

Institute of Biological Chemistry, Biophysics and Bioengineering, Heriot-Watt University, Edinburgh EH14 4AS, UK.

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http://dx.doi.org/10.3390/jcdd4040022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753123PMC
December 2017

Limited Effects of Endurance or Interval Training on Visceral Adipose Tissue and Systemic Inflammation in Sedentary Middle-Aged Men.

J Obes 2016 29;2016:2479597. Epub 2016 Sep 29.

School of Exercise Science, Sport and Health, Charles Sturt University, Bathurst, NSW, Australia.

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http://dx.doi.org/10.1155/2016/2479597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061978PMC
October 2017

Effects of Aerobic, Strength or Combined Exercise on Perceived Appetite and Appetite-Related Hormones in Inactive Middle-Aged Men.

Int J Sport Nutr Exerc Metab 2017 Oct 28;27(5):389-398. Epub 2017 Jun 28.

5 University of Technology Sydney.

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http://dx.doi.org/10.1123/ijsnem.2017-0144DOI Listing
October 2017

RACK1 stabilises the activity of PP2A to regulate the transformed phenotype in mammary epithelial cells.

Cell Signal 2017 07 4;35:290-300. Epub 2016 Sep 4.

Graduate Entry Medical School, Materials and Surface Science Institute and Health Research Institute, University of Limerick, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.cellsig.2016.09.001DOI Listing
July 2017

Sphingosine Kinase 2 in Autoimmune/Inflammatory Disease and the Development of Sphingosine Kinase 2 Inhibitors.

Trends Pharmacol Sci 2017 07 9;38(7):581-591. Epub 2017 Jun 9.

Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, 161 Cathedral Street, Glasgow G4 0RE, UK.

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http://dx.doi.org/10.1016/j.tips.2017.04.003DOI Listing
July 2017

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the gene revealed a co-segregation of the controversial variant, p.R305W.

Cell Biosci 2017 26;7:22. Epub 2017 Apr 26.

DNA Diagnostic Laboratory, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bethesda, 20892 Maryland USA.

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http://cellandbioscience.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s13578-017-0149-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406851PMC
April 2017

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Mol Genet Metab 2017 03 18;120(3):288-294. Epub 2016 Dec 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; NIH Undiagnosed Diseases Program, NIH Common Fund, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346474PMC
March 2017

Identification of a Novel, Small Molecule Partial Agonist for the Cyclic AMP Sensor, EPAC1.

Sci Rep 2017 03 22;7(1):294. Epub 2017 Mar 22.

Institute of Biological Chemistry, Biophysics and Bioengineering, Heriot-Watt University, Edinburgh Campus, Edinburgh, EH14 4AS, UK.

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http://dx.doi.org/10.1038/s41598-017-00455-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428521PMC
March 2017

Identification of a multifunctional docking site on the catalytic unit of phosphodiesterase-4 (PDE4) that is utilised by multiple interaction partners.

Biochem J 2017 02 19;474(4):597-609. Epub 2016 Dec 19.

Institute of Cardiovascular and Medical Science, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, U.K.

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http://biochemj.org/lookup/doi/10.1042/BCJ20160849
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http://dx.doi.org/10.1042/BCJ20160849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290487PMC
February 2017

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2017 02;88(7):e57-e65

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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http://dx.doi.org/10.1212/WNL.0000000000003622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584077PMC
February 2017

Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysis.

Am J Med Genet A 2017 Jan 28;173(1):177-182. Epub 2016 Oct 28.

Division of Pediatric Pathology, Department of Pathology, School of Medicine, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37994DOI Listing
January 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

Genet Med 2016 12 2;18(12):1303-1307. Epub 2016 Jun 2.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133159PMC
December 2016

Phenotypic evolution of UNC80 loss of function.

Am J Med Genet A 2016 12 11;170(12):3106-3114. Epub 2016 Aug 11.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671762PMC
December 2016

Genome-wide significance testing of variation from single case exomes.

Nat Genet 2016 12 24;48(12):1455-1461. Epub 2016 Oct 24.

Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/ng.3697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127779PMC
December 2016

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

Am J Hum Genet 2016 Dec 10;99(6):1261-1280. Epub 2016 Nov 10.

Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322, USA; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142120PMC
December 2016

Explorations to improve the completeness of exome sequencing.

BMC Med Genomics 2016 08 27;9(1):56. Epub 2016 Aug 27.

NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12920-016-0216-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002202PMC
August 2016

Sphingosine Kinases: Emerging Structure-Function Insights.

Trends Biochem Sci 2016 05 25;41(5):395-409. Epub 2016 Mar 25.

Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, 161 Cathedral St, Glasgow, G4 0RE, Scotland, UK. Electronic address:

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http://dx.doi.org/10.1016/j.tibs.2016.02.007DOI Listing
May 2016

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Mol Genet Metab 2016 Apr 22;117(4):393-400. Epub 2016 Jan 22.

NIH Undiagnosed Diseases Network, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560125PMC
April 2016

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2016 04 4;86(14):1320-1328. Epub 2016 Mar 4.

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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http://dx.doi.org/10.1212/WNL.0000000000002551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826336PMC
April 2016

Sphingosine 1-phosphate and sphingosine kinases in health and disease: Recent advances.

Prog Lipid Res 2016 04 10;62:93-106. Epub 2016 Mar 10.

Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, 161 Cathedral St, Glasgow, G4 0RE, Scotland, UK. Electronic address:

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http://dx.doi.org/10.1016/j.plipres.2016.03.001DOI Listing
April 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

The National Institutes of Health undiagnosed diseases program.

Curr Opin Pediatr 2014 Dec;26(6):626-33

aNIH Undiagnosed Diseases Program, Office of the Director, NIH Common Fund bOffice of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302336PMC
December 2014

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Genet Med 2014 Oct 1;16(10):741-50. Epub 2014 May 1.

National Institutes of Health (NIH) Undiagnosed Diseases Program, Common Fund, NIH Office of the Director and National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190001PMC
October 2014

Health care utilization patterns and costs for patients with hidradenitis suppurativa.

JAMA Dermatol 2014 Sep;150(9):937-44

Department of Public Health Sciences, Penn State Hershey, Hershey, Pennsylvania.

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http://dx.doi.org/10.1001/jamadermatol.2014.691DOI Listing
September 2014

mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Ann Clin Transl Neurol 2014 Mar;1(3):190-198

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/acn3.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449PMC
March 2014

Genome-scale sequencing to identify genes involved in Mendelian disorders.

Curr Protoc Hum Genet 2013 Oct 18;79:Unit 6.13.. Epub 2013 Oct 18.

Undiagnosed Diseases Program, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/0471142905.hg0613s79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959778PMC
October 2013

RACK1 to the future--a historical perspective.

Cell Commun Signal 2013 Aug 1;11:53. Epub 2013 Aug 1.

Department of Life Sciences, Materials and Surface Science Institute and Stokes Institute, University of Limerick, Limerick, Ireland.

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http://dx.doi.org/10.1186/1478-811X-11-53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750812PMC
August 2013

Comparative effects of single-mode vs. duration-matched concurrent exercise training on body composition, low-grade inflammation, and glucose regulation in sedentary, overweight, middle-aged men.

Appl Physiol Nutr Metab 2013 Jul 25;38(7):779-88. Epub 2013 Feb 25.

School of Human Movement Studies, Charles Sturt University, Panorama Avenue, Bathurst, Australia, 2795.

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http://dx.doi.org/10.1139/apnm-2012-0443DOI Listing
July 2013

Irritant contact dermatitis to the brown marmorated stink bug, Halyomorpha halys.

Dermatitis 2012 Jul-Aug;23(4):170-2

Department of Dermatology, College of Medicine, Penn State University, Hershey, PA 17033, USA.

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http://dx.doi.org/10.1097/DER.0b013e318260d7beDOI Listing
May 2013

Chemical informatics uncovers a new role for moexipril as a novel inhibitor of cAMP phosphodiesterase-4 (PDE4).

Biochem Pharmacol 2013 May 5;85(9):1297-305. Epub 2013 Mar 5.

Institute of Cardiovascular and Medical Sciences, CMVLS, Glasgow University, Glasgow G12 8QQ, UK.

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http://dx.doi.org/10.1016/j.bcp.2013.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625111PMC
May 2013

Phosphodiesterase inhibitors. Part 5: hybrid PDE3/4 inhibitors as dual bronchorelaxant/anti-inflammatory agents for inhaled administration.

Bioorg Med Chem Lett 2013 Jan 9;23(1):375-81. Epub 2012 Nov 9.

Discovery Research Laboratories, Kyorin Pharmaceutical Co., Ltd, 2399-1 Nogi, Nogi-machi, Shimotsuga-gun, Tochigi 329-0114, Japan.

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http://dx.doi.org/10.1016/j.bmcl.2012.08.121DOI Listing
January 2013

Chemically engineering ligand selectivity at the free fatty acid receptor 2 based on pharmacological variation between species orthologs.

FASEB J 2012 Dec 23;26(12):4951-65. Epub 2012 Aug 23.

Molecular Pharmacology Group, Institute of Molecular, Cell, and Systems Biology, College of Medical, Veterinary, and Life Sciences, University of Glasgow, Glasgow, UK.

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http://dx.doi.org/10.1096/fj.12-213314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509056PMC
December 2012

Phosphodiesterase inhibitors. Part 4: design, synthesis and structure-activity relationships of dual PDE3/4-inhibitory fused bicyclic heteroaromatic-4,4-dimethylpyrazolones.

Bioorg Med Chem Lett 2012 Sep 31;22(18):5833-8. Epub 2012 Jul 31.

Discovery Research Laboratories, Kyorin Pharmaceutical Co., Ltd., 2399-1, Nogi, Nogi-machi, Shimotsuga-gun, Tochigi 329-0114, Japan.

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http://dx.doi.org/10.1016/j.bmcl.2012.07.088DOI Listing
September 2012

Serine phosphorylation of the insulin-like growth factor I (IGF-1) receptor C-terminal tail restrains kinase activity and cell growth.

J Biol Chem 2012 Aug 8;287(33):28180-94. Epub 2012 Jun 8.

Cell Biology Laboratory, Department of Biochemistry, BioSciences Institute, University College Cork, Cork, Ireland.

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http://dx.doi.org/10.1074/jbc.M112.385757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431707PMC
August 2012

JAAD grand rounds. Increased fragility and bulla formation on the dorsal surface of the hand.

J Am Acad Dermatol 2012 May;66(5):866

Hershey, Pennsylvania.

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http://dx.doi.org/10.1016/j.jaad.2010.10.011DOI Listing
May 2012

Methotrexate sodium-associated UV reactivation in a patient with acute lymphoblastic leukemia.

Cutis 2012 May;89(5):233-6

Penn State College of Medicine, Hershey, Pennsylvania, USA.

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May 2012

Persistent allergic contact dermatitis to plastic toilet seats.

Pediatr Dermatol 2011 Sep-Oct;28(5):587-90. Epub 2011 Apr 26.

Penn State/Milton S Hershey Medical Center, Department of Dermatology, Hershey, Pennsylvania 17033, USA.

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http://doi.wiley.com/10.1111/j.1525-1470.2010.01211.x
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http://dx.doi.org/10.1111/j.1525-1470.2010.01211.xDOI Listing
February 2012

Direct interaction between scaffolding proteins RACK1 and 14-3-3ζ regulates brain-derived neurotrophic factor (BDNF) transcription.

J Biol Chem 2012 Jan 8;287(1):322-36. Epub 2011 Nov 8.

Ernest Gallo Research Center, Department of Neurology, University of California, San Francisco, Emeryville, California 94608, USA.

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http://dx.doi.org/10.1074/jbc.M111.272195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249084PMC
January 2012

Several generations of chemoenzymatic synthesis of oseltamivir (Tamiflu): evolution of strategy, quest for a process-quality synthesis, and evaluation of efficiency metrics.

J Org Chem 2011 Dec 11;76(24):10050-67. Epub 2011 Nov 11.

Department of Chemistry and Centre for Biotechnology, Brock University, 500 Glenridge Avenue, St. Catharines, Ontario L2S 3A1, Canada.

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http://dx.doi.org/10.1021/jo2018872DOI Listing
December 2011

RACK1, A multifaceted scaffolding protein: Structure and function.

Cell Commun Signal 2011 Oct 6;9:22. Epub 2011 Oct 6.

Department of Life Sciences, and Materials and Surface Science Institute, University of Limerick, Limerick, Ireland.

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http://dx.doi.org/10.1186/1478-811X-9-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195729PMC
October 2011

Phosphodiesterase inhibitors. Part 2: design, synthesis, and structure-activity relationships of dual PDE3/4-inhibitory pyrazolo[1,5-a]pyridines with anti-inflammatory and bronchodilatory activity.

Bioorg Med Chem Lett 2011 Sep 2;21(18):5451-6. Epub 2011 Jul 2.

Discovery Research Laboratories, Kyorin Pharmaceutical Co. Ltd, 2399-1 Nogi, Nogi-machi, Shimotsuga-gun, Tochigi 329-0114, Japan.

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http://dx.doi.org/10.1016/j.bmcl.2011.06.118DOI Listing
September 2011

What's eating you? Oak leaf itch mite (Pyemotes herfsi).

Cutis 2011 Sep;88(3):114-6

Dermatology Associates of Lancaster, 1650 Crooked Oak Dr, Ste 200, Lancaster, PA 17601, USA.

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September 2011

Extracellular loop 2 of the free fatty acid receptor 2 mediates allosterism of a phenylacetamide ago-allosteric modulator.

Mol Pharmacol 2011 Jul 15;80(1):163-73. Epub 2011 Apr 15.

Molecular Pharmacology Group, Institute of Neuroscience and Psychology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, Scotland, United Kingdom.

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http://dx.doi.org/10.1124/mol.110.070789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127537PMC
July 2011

Chemoenzymatic synthesis of inositols, conduritols, and cyclitol analogues.

Chem Rev 2011 Jul 1;111(7):4223-58. Epub 2011 Jun 1.

Department of Chemistry and the Centre for Biotechnology, Brock University, 500 Glenridge Avenue, St. Catharines ON L2S 3A1, Canada.

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http://dx.doi.org/10.1021/cr1004138DOI Listing
July 2011

Synthesis of buprenorphine from oripavine via N-demethylation of oripavine quaternary salts.

J Org Chem 2011 Jun 2;76(11):4628-34. Epub 2011 May 2.

Chemistry Department, Brock University, St. Catharines, Ontario, Canada.

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http://dx.doi.org/10.1021/jo200567nDOI Listing
June 2011

Phosphodiesterase inhibitors. Part 1: Synthesis and structure-activity relationships of pyrazolopyridine-pyridazinone PDE inhibitors developed from ibudilast.

Bioorg Med Chem Lett 2011 Jun 13;21(11):3307-12. Epub 2011 Apr 13.

Chemistry Department, School of Engineering and Physical Sciences, Heriot-Watt University, Riccarton, Edinburgh EH14 4AS, United Kingdom.

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http://dx.doi.org/10.1016/j.bmcl.2011.04.021DOI Listing
June 2011

Eruptive squamous cell carcinomas with keratoacanthoma-like features in a patient treated with sorafenib.

J Drugs Dermatol 2011 Mar;10(3):308-10

Pennsylvania State University College of Medicine, Hershey, PA, USA.

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March 2011

Fine wrinkling of the thighs and axillae--quiz case. Middermal elastolysis.

Arch Dermatol 2010 Oct;146(10):1167-72

Penn State Milton S. Hershey Medical Center, Hershey, PA, USA.

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http://dx.doi.org/10.1001/archdermatol.2010.283-aDOI Listing
October 2010