Search Results - "Collins, FS"

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome by Collins, Francis S, Eriksson, Maria, Brown, W. Ted, Gordon, Leslie B, Glynn, Michael W, Singer, Joel, Scott, Laura, Erdos, Michael R, Robbins, Christiane M, Moses, Tracy Y, Berglund, Peter, Dutra, Amalia, Pak, Evgenia, Durkin, Sandra, Csoka, Antonei B, Boehnke, Michael, Glover, Thomas W

“…Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. Here, we present…”
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Positional cloning: Let's not call it reverse anymore by Collins, Francis S

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Genetic discrimination: time to act by Collins, Francis S, Watson, James D

“…Collins and Watson stress the need for the U.S. House of Representative to approve the Genetic Information Nondiscrimination Act of 2003 that would protect…”
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Helping to End Addiction Over the Long-term: The Research Plan for the NIH HEAL Initiative by Collins, Francis S, Koroshetz, Walter J, Volkow, Nora D

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What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era by Collins, Francis S

“…A true understanding of disease risk requires a thorough examination of root causes. 'Race' and 'ethnicity' are poorly defined terms that serve as flawed…”
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits by Hindorff, Lucia A, Sethupathy, Praveen, Junkins, Heather A, Ramos, Erin M, Mehta, Jayashri P, Collins, Francis S, Manolio, Teri A

“…We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics…”
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Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells by Cao, Kan, Graziotto, John J, Blair, Cecilia D, Mazzulli, Joseph R, Erdos, Michael R, Krainc, Dimitri, Collins, Francis S

“…Hutchinson-Gilford progeria syndrome (HGPS) is a lethal genetic disorder characterized by premature aging. HGPS is most commonly caused by a de novo…”
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Genomic Medicine — A Primer by Guttmacher, Alan E, Collins, Francis S

“…This review article launches our series on genomic medicine. It provides definitions of terms commonly used in genetics, delineates the distinction between…”
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The case for a US prospective cohort study of genes and environment by Collins, Francis S

“…Information from the Human Genome Project will be vital for defining the genetic and environmental factors that contribute to health and disease. Well-designed…”
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The Human Genome Project: Lessons from Large-Scale Biology by Collins, Francis S., Morgan, Michael, Patrinos, Aristides

“…The Human Genome Project has been the first major foray of the biological and medical research communities into "big science." In this Viewpoint, we present…”
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The Family History — More Important Than Ever by Guttmacher, Alan E, Collins, Francis S, Carmona, Richard H

“…Although the family history is part of the basic workup that has been taught in medical schools for generations, it often does not get the attention it should…”
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Shattuck lecture : Medical and societal consequences of the human genome project by COLLINS, F. S

“…Scientists funded by the Wellcome Trust at the Sanger Centre in Cambridge, England, along with other international partners, will produce the remainder…”
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A vision for the future of genomics research by Collins, Francis S, Green, Eric D, Guttmacher, Alan E, Guyer, Mark S

“…The completion of a high-quality, comprehensive sequence of the human genome, in this fiftieth anniversary year of the discovery of the double-helical…”
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Mutant Nuclear Lamin a Leads to Progressive Alterations of Epigenetic Control in Premature Aging by Shumaker, Dale K., Dechat, Thomas, Kohlmaier, Alexander, Adam, Stephen A., Bozovsky, Matthew R., Erdos, Michael R., Eriksson, Maria, Goldman, Anne E., Khuon, Satya, Collins, Francis S., Jenuwein, Thomas, Goldman, Robert D.

“…The premature aging disease Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by a mutant lamin A (LA∆50). Nuclei in cells expressing LA∆50 are abnormally…”
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Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia by LIU, P. P, HAJRA, A, WIJMENGA, C, COLLINS, F. S

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Welcome to the Genomic Era by Guttmacher, Alan E, Collins, Francis S

“…To him who devotes his life to science, nothing can give more happiness than increasing the number of discoveries, but his cup of joy is full when the results…”
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Accumulation of Mutant Lamin A Causes Progressive Changes in Nuclear Architecture in Hutchinson-Gilford Progeria Syndrome by Goldman, Robert D., Shumaker, Dale K., Erdos, Michael R., Eriksson, Maria, Goldman, Anne E., Gordon, Leslie B., Gruenbaum, Yosef, Khuon, Satya, Mendez, Melissa, Varga, Renée, Collins, Francis S.

“…Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder, commonly caused by a point mutation in the lamin A gene that results in a protein…”
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NIH Molecular Libraries Initiative by Austin, Christopher P., Brady, Linda S., Insel, Thomas R., Collins, Francis S.

“…The purpose of the Molecular Libraries Initiative component of the NIH Roadmap for Medical research is to expand the availability, flexibility, and use of…”
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The Role of Science in the Opioid Crisis by Joshi, Manish, Bartter, Thaddeus, Joshi, Anita, Glare, Paul A, Nicholas, Michael K, Blyth, Fiona M, Volkow, Nora D, Collins, Francis S

“…To the Editor: In their Special Report (July 27 issue), 1 Volkow and Collins address the opioid epidemic — a major public health crisis of our times. We are…”
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New models for large prospective studies: is there a better way? by Manolio, Teri A, Weis, Brenda K, Cowie, Catherine C, Hoover, Robert N, Hudson, Kathy, Kramer, Barnett S, Berg, Chris, Collins, Rory, Ewart, Wendy, Gaziano, J Michael, Hirschfeld, Steven, Marcus, Pamela M, Masys, Daniel, McCarty, Catherine A, McLaughlin, John, Patel, Alpa V, Peakman, Tim, Pedersen, Nancy L, Schaefer, Catherine, Scott, Joan A, Sprosen, Timothy, Walport, Mark, Collins, Francis S

“…Large prospective cohort studies are critical for identifying etiologic factors for disease, but they require substantial long-term research investment. Such…”
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