Institution
National Institutes of Health
Government•Bethesda, Maryland, United States•
About: National Institutes of Health is a government organization based out in Bethesda, Maryland, United States. It is known for research contribution in the topics: Population & Gene. The organization has 149298 authors who have published 297896 publications receiving 21337431 citations. The organization is also known as: NIH & U.S. National Institutes of Health.
Topics: Population, Gene, Cancer, Receptor, Immune system
Papers published on a yearly basis
Papers
More filters
•
01 Jan 2001TL;DR: MetaMap as discussed by the authors is a system developed at the National Library of Medicine (NLM) to map biomedical text to the UMLS Metathesaurus or, equivalently, to discover METAThesaurus concepts referred to in text.
Abstract: The UMLS Metathesaurus, the largest thesaurus in the biomedical domain, provides a representation of biomedical knowledge consisting of concepts classified by semantic type and both hierarchical and non-hierarchical relationships among the concepts. This knowledge has proved useful for many applications including decision support systems, management of patient records, information retrieval (IR) and data mining. Gaining effective access to the knowledge is critical to the success of these applications. This paper describes MetaMap, a program developed at the National Library of Medicine (NLM) to map biomedical text to the Metathesaurus or, equivalently, to discover Metathesaurus concepts referred to in text. MetaMap uses a knowledge intensive approach based on symbolic, natural language processing (NLP) and computational linguistic techniques. Besides being applied for both IR and data mining applications, MetaMap is one of the foundations of NLM's Indexing Initiative System which is being applied to both semi-automatic and fully automatic indexing of the biomedical literature at the library.
1,968 citations
••
University of Washington1, National Institutes of Health2, Northwestern University3, Washington University in St. Louis4, Mayo Clinic5, Harvard University6, University of California, San Diego7, SUNY Downstate Medical Center8, University of Kentucky9, Rush University Medical Center10, University of Ulm11, University of Pennsylvania12, University of California, Los Angeles13
TL;DR: A practical guide for the implementation of recently revised National Institute on Aging–Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer’s disease is presented.
Abstract: We present a practical guide for the implementation of recently revised National Institute on Aging–Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease (AD). Major revisions from previous consensus criteria are: (1) recognition that AD neuropathologic changes may occur in the apparent absence of cognitive impairment, (2) an “ABC” score for AD neuropathologic change that incorporates histopathologic assessments of amyloid β deposits (A), staging of neurofibrillary tangles (B), and scoring of neuritic plaques (C), and (3) more detailed approaches for assessing commonly co-morbid conditions such as Lewy body disease, vascular brain injury, hippocampal sclerosis, and TAR DNA binding protein (TDP)-43 immunoreactive inclusions. Recommendations also are made for the minimum sampling of brain, preferred staining methods with acceptable alternatives, reporting of results, and clinico-pathologic correlations.
1,965 citations
••
TL;DR: It was shown that AZT decreased the maternal-infant transmission of HIV and helped decrease infant mortality due to the viral infection.
Abstract: In 1994, Edward M. Connor and colleagues published \"Reduction of Maternal-Infant Transmission of Human Immunodeficiency Virus Type 1 with Zidovudine Treatment.\" Their study summarized how to reduce the transfer of human immunodeficiency virus, or HIV, from pregnant women to their fetuses with Zidovudine, otherwise known as AZT. HIV is a virus that weakens the immune system by destroying white blood cells, a part of the body ́s immune system. Fifteen to forty percent of infants born to HIVpositive mothers become infected during fetal development, labor and delivery, or breast-feeding. From April 1991 to December 1993, Connor and his colleagues researched HIV-positive pregnant women who took AZT, a drug that treats but does not cure an HIV infection. In their article, Conner and colleagues showed that AZT decreased the maternal-infant transmission of HIV and helped decrease infant mortality due to the viral infection.
1,964 citations
••
Richard A. Gibbs1, George M. Weinstock1, Michael L. Metzker1, Donna M. Muzny1 +239 more•Institutions (35)
TL;DR: This first comprehensive analysis of the genome sequence of the Brown Norway (BN) rat strain is reported, which is the third complete mammalian genome to be deciphered, and three-way comparisons with the human and mouse genomes resolve details of mammalian evolution.
Abstract: The laboratory rat (Rattus norvegicus) is an indispensable tool in experimental medicine and drug development, having made inestimable contributions to human health. We report here the genome sequence of the Brown Norway (BN) rat strain. The sequence represents a high-quality 'draft' covering over 90% of the genome. The BN rat sequence is the third complete mammalian genome to be deciphered, and three-way comparisons with the human and mouse genomes resolve details of mammalian evolution. This first comprehensive analysis includes genes and proteins and their relation to human disease, repeated sequences, comparative genome-wide studies of mammalian orthologous chromosomal regions and rearrangement breakpoints, reconstruction of ancestral karyotypes and the events leading to existing species, rates of variation, and lineage-specific and lineage-independent evolutionary events such as expansion of gene families, orthology relations and protein evolution.
1,964 citations
••
TL;DR: Evidence of mutations in lamin A (LMNA) as the cause of Hutchinson–Gilford progeria syndrome is presented, and the discovery of the molecular basis of this disease may shed light on the general phenomenon of human ageing.
Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. Here, we present evidence of mutations in lamin A (LMNA) as the cause of this disorder. The HGPS gene was initially localized to chromosome 1q by observing two cases of uniparental isodisomy of 1q-the inheritance of both copies of this material from one parent-and one case with a 6-megabase paternal interstitial deletion. Sequencing of LMNA, located in this interval and previously implicated in several other heritable disorders, revealed that 18 out of 20 classical cases of HGPS harboured an identical de novo (that is, newly arisen and not inherited) single-base substitution, G608G(GGC > GGT), within exon 11. One additional case was identified with a different substitution within the same codon. Both of these mutations result in activation of a cryptic splice site within exon 11, resulting in production of a protein product that deletes 50 amino acids near the carboxy terminus. Immunofluorescence of HGPS fibroblasts with antibodies directed against lamin A revealed that many cells show visible abnormalities of the nuclear membrane. The discovery of the molecular basis of this disease may shed light on the general phenomenon of human ageing.
1,963 citations
Authors
Showing all 149386 results
Name | H-index | Papers | Citations |
---|---|---|---|
Walter C. Willett | 334 | 2399 | 413322 |
Eric S. Lander | 301 | 826 | 525976 |
Robert Langer | 281 | 2324 | 326306 |
Meir J. Stampfer | 277 | 1414 | 283776 |
JoAnn E. Manson | 270 | 1819 | 258509 |
Albert Hofman | 267 | 2530 | 321405 |
Frank B. Hu | 250 | 1675 | 253464 |
Paul M. Ridker | 233 | 1242 | 245097 |
Solomon H. Snyder | 232 | 1222 | 200444 |
Salim Yusuf | 231 | 1439 | 252912 |
Eugene Braunwald | 230 | 1711 | 264576 |
Ralph B. D'Agostino | 226 | 1287 | 229636 |
John Q. Trojanowski | 226 | 1467 | 213948 |
Steven A. Rosenberg | 218 | 1204 | 199262 |
Yi Chen | 217 | 4342 | 293080 |