Institution
Indiana University
Education•Bloomington, Indiana, United States•
About: Indiana University is a education organization based out in Bloomington, Indiana, United States. It is known for research contribution in the topics: Population & Poison control. The organization has 64480 authors who have published 150058 publications receiving 6392902 citations. The organization is also known as: Indiana University system & indiana.edu.
Topics: Population, Poison control, Health care, Transplantation, Cancer
Papers published on a yearly basis
Papers
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TL;DR: A positional cloning approach was used to identify the ADHR gene which included the annotation of 37 genes within 4 Mb of genomic sequence, and missense mutations in a gene encoding a new member of the fibroblast growth factor (FGF) family, FGF23 were identified.
Abstract: Proper serum phosphate concentrations are maintained by a complex and poorly understood process. Identification of genes responsible for inherited disorders involving disturbances in phosphate homeostasis may provide insight into the pathways that regulate phosphate balance. Several hereditary disorders of isolated phosphate wasting have been described, including X-linked hypophosphataemic rickets1 (XLH), hypophosphataemic bone disease2 (HBD), hereditary hypophosphataemic rickets with hypercalciuria3 (HHRH) and autosomal dominant hypophosphataemic rickets4,5 (ADHR). Inactivating mutations of the gene PHEX, encoding a member of the neutral endopeptidase family of proteins, are responsible for XLH (refs 6,7). ADHR (MIM 193100) is characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses4,5. Here we describe a positional cloning approach used to identify the ADHR gene which included the annotation of 37 genes within 4 Mb of genomic sequence. We identified missense mutations in a gene encoding a new member of the fibroblast growth factor (FGF) family, FGF23. These mutations in patients with ADHR represent the first mutations found in a human FGF gene.
1,429 citations
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University of Connecticut Health Center1, University of California, Berkeley2, Lawrence Berkeley National Laboratory3, National Institutes of Health4, Washington University in St. Louis5, Indiana University6, Cold Spring Harbor Laboratory7, Life Technologies8, Amgen9, University of Kansas10, Stowers Institute for Medical Research11, University of California, Santa Cruz12, Howard Hughes Medical Institute13, Affymetrix14
TL;DR: 111,195 new elements are identified, including thousands of genes, coding and non-coding transcripts, exons, splicing and editing events and inferred protein isoforms that previously eluded discovery using established experimental, prediction and conservation-based approaches.
Abstract: Drosophila melanogaster is one of the most well studied genetic model organisms; nonetheless, its genome still contains unannotated coding and non-coding genes, transcripts, exons and RNA editing sites. Full discovery and annotation are pre-requisites for understanding how the regulation of transcription, splicing and RNA editing directs the development of this complex organism. Here we used RNA-Seq, tiling microarrays and cDNA sequencing to explore the transcriptome in 30 distinct developmental stages. We identified 111,195 new elements, including thousands of genes, coding and non-coding transcripts, exons, splicing and editing events, and inferred protein isoforms that previously eluded discovery using established experimental, prediction and conservation-based approaches. These data substantially expand the number of known transcribed elements in the Drosophila genome and provide a high-resolution view of transcriptome dynamics throughout development.
1,427 citations
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TL;DR: Analysis of the development of the cardiovascular lineages in human embryonic stem cell differentiation cultures identifies a human cardiovascular progenitor that defines one of the earliest stages of human cardiac development.
Abstract: The functional heart is comprised of distinct mesoderm-derived lineages including cardiomyocytes, endothelial cells and vascular smooth muscle cells. Studies in the mouse embryo and the mouse embryonic stem cell differentiation model have provided evidence indicating that these three lineages develop from a common Flk-1(+) (kinase insert domain protein receptor, also known as Kdr) cardiovascular progenitor that represents one of the earliest stages in mesoderm specification to the cardiovascular lineages. To determine whether a comparable progenitor is present during human cardiogenesis, we analysed the development of the cardiovascular lineages in human embryonic stem cell differentiation cultures. Here we show that after induction with combinations of activin A, bone morphogenetic protein 4 (BMP4), basic fibroblast growth factor (bFGF, also known as FGF2), vascular endothelial growth factor (VEGF, also known as VEGFA) and dickkopf homolog 1 (DKK1) in serum-free media, human embryonic-stem-cell-derived embryoid bodies generate a KDR(low)/C-KIT(CD117)(neg) population that displays cardiac, endothelial and vascular smooth muscle potential in vitro and, after transplantation, in vivo. When plated in monolayer cultures, these KDR(low)/C-KIT(neg) cells differentiate to generate populations consisting of greater than 50% contracting cardiomyocytes. Populations derived from the KDR(low)/C-KIT(neg) fraction give rise to colonies that contain all three lineages when plated in methylcellulose cultures. Results from limiting dilution studies and cell-mixing experiments support the interpretation that these colonies are clones, indicating that they develop from a cardiovascular colony-forming cell. Together, these findings identify a human cardiovascular progenitor that defines one of the earliest stages of human cardiac development.
1,419 citations
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TL;DR: In this article, a theoretical framework for the treatment of low-energy effects of spontaneous $\mathrm{CPT}$ violation and the attendant partial Lorentz breaking is provided.
Abstract: Spontaneous $\mathrm{CPT}$ breaking arising in string theory has been suggested as a possible observable experimental signature in neutral-meson systems. We provide a theoretical framework for the treatment of low-energy effects of spontaneous $\mathrm{CPT}$ violation and the attendant partial Lorentz breaking. The analysis is within the context of conventional relativistic quantum mechanics and quantum field theory in four dimensions. We use the framework to develop a $\mathrm{CPT}$-violating extension to the minimal standard model that could serve as a basis for establishing quantitative $\mathrm{CPT}$ bounds.
1,413 citations
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TL;DR: This document is the first update of the American College of Gastroenterology (ACG) colorectal cancer screening recommendations since 2000, and it is recognized that colonoscopy is not available in every clinical setting because of economic limitations.
1,409 citations
Authors
Showing all 64884 results
Name | H-index | Papers | Citations |
---|---|---|---|
Frank B. Hu | 250 | 1675 | 253464 |
Stuart H. Orkin | 186 | 715 | 112182 |
Bruce M. Spiegelman | 179 | 434 | 158009 |
David R. Williams | 178 | 2034 | 138789 |
D. M. Strom | 176 | 3167 | 194314 |
Markus Antonietti | 176 | 1068 | 127235 |
Lei Jiang | 170 | 2244 | 135205 |
Brenda W.J.H. Penninx | 170 | 1139 | 119082 |
Nahum Sonenberg | 167 | 647 | 104053 |
Carl W. Cotman | 165 | 809 | 105323 |
Yang Yang | 164 | 2704 | 144071 |
Jaakko Kaprio | 163 | 1532 | 126320 |
Ralph A. DeFronzo | 160 | 759 | 132993 |
Gavin Davies | 159 | 2036 | 149835 |
Tyler Jacks | 158 | 463 | 115172 |