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http://www.niaid.nih.gov/topics/alps/Pages/default.aspx

A disease-related portal about Autoimmune Lymphoproliferative Syndrome (ALPS) including research in the following categories: Medical and Genetic Description, Database of Mutations, Database of ALPS-FAS Mutations, and Molecular Pathways. Autoimmune Lymphoproliferative Syndrome (ALPS) is a recently recognized disease in which a genetic defect in programmed cell death, or apoptosis, leads to breakdown of lymphocyte homeostasis and normal immunologic tolerance. It is an inherited disorder of the immune system that affects both children and adults. In ALPS, unusually high numbers of white blood cells called lymphocytes accumulate in the lymph nodes, liver, and spleen, which can lead to enlargement of these organs. Database of Mutations * All existing ALPS-FAS mutations (NIH Web site) * ALPS-FAS * ALPS Type Ia (most common type) ** Reported FAS (TNFRSF6) mutations causing ALPS ** Distribution of FAS (TNFRSF6) mutations ** FAS (TNFRSF6) polymorphisms * ALPS Type II

Proper citation: Autoimmune Lymphoproliferative Syndrome Information (RRID:SCR_006451) Copy   

•   Source: SciCrunch Registry

http://www.autoimmunitycenters.org/

Nine centers that conduct clinical trials and basic research on new immune-based therapies for autoimmune diseases. This program enhances interactions between scientists and clinicians in order to accelerate the translation of research findings into medical applications. By promoting better coordination and communication, and enabling limited resources to be pooled, ACEs is one of NIAID''''s primary vehicles for both expanding our knowledge and improving our ability to effectively prevent and treat autoimmune diseases. This coordinated approach incorporates key recommendations of the NIH Autoimmune Diseases Research Plan and will ensure progress in identifying new and highly effective therapies for autoimmune diseases. ACEs is advancing the search for effective treatments through: * Diverse Autoimmunity Expertise Medical researchers at ACEs include rheumatologists, neurologists, gastroenterologists, and endocrinologists who are among the elite in their respective fields. * Strong Mechanistic Foundation ACEs augment each clinical trial with extensive basic studies designed to enhance understanding of the mechanisms responsible for tolerance initiation, maintenance, or loss, including the role of cytokines, regulatory T cells, and accessory cells, to name a few. * Streamlined Patient Recruitment The cooperative nature of ACEs helps scientists recruit patients from distinct geographical areas. The rigorous clinical and basic science approach of ACEs helps maintain a high level of treatment and analysis, enabling informative comparisons between patient groups.

Proper citation: Autoimmunity Centers of Excellence (RRID:SCR_006510) Copy   

•   Source: SciCrunch Registry

http://projectreporter.nih.gov/project_info_description.cfm?aid=8661937&icde=19363283&ddparam=&ddvalue=&ddsub=&cr=1&csb=default&cs=ASC

Initiative to assemble a multicenter team of expert neuroscientists to evaluate the late effects of Traumatic brain injury (TBI), including single and repetitive TBI of varying severity, and Chronic Traumatic Encephalopathy (CTE), using histological examination of postmortem bio specimens and neuroimaging tools as a foundation to develop in vivo diagnostics. As a first aim, this proposal will bring together a team of 5 accomplished neuropathologists in neurodegenerative disease to establish consensus criteria for the post-mortem diagnosis of CTE. This team will also define the stages of CTE pathology, the features that differentiate CTE from other neurodegenerations and the effects of substance abuse, and the characteristics of posttraumatic neurodegeneration after single TBI. As a second aim, this proposal will establish a national bio specimen and data bank for TBI (Understanding Neurological Injury and Traumatic Encephalopathy (UNITE) bio bank) by developing a nationwide brain donor registry and hotline to acquire high quality bio specimens and data. The UNITE bank will use strictly standardized protocols and a web-based interface to ensure that tissue and data are readily available to qualified investigators. Comprehensive retrospective clinical data including clinical symptoms, brain trauma and substance abuse history, and medical records (including common data elements) will be entered into a secure database. Behavioral/ mood dysfunction, cognitive changes, substance abuse and traumatic exposure will be correlated with quantitative assessment of the multifocal tauopathy, Ass deposition and axonal injury. As a third aim, neuroimaging signatures of the neuropathology will be determined in post-mortem tissue using high spatial resolution diffusion tensor imaging (DTI) and autoradiography using a highly selective PET ligand for tau. Quantitative assessment of axonal injury, tau, and Ass will be correlated with ex vivo DTI abnormalities and tau ligand autoradiography. Pilot neuroimaging studies of individuals at high risk for the development of CTE will also be conducted in the final 2 years of the proposal. This proposal will determine the clinical and neuroimaging correlates of CTE and posttraumatic neurodegeneration and create the groundwork for establishing their incidence and prevalence. This study will have a tremendous impact on public health of millions of Americans and greatly increase our understanding of the latent effects of brain trauma.

Proper citation: CTE and Post-traumatic Neurodegeneration: Neuropathology and Ex Vivo Imaging (RRID:SCR_006543) Copy   

•   Source: SciCrunch Registry

http://www.rarechromo.org/html/home.asp

Unique is a source of information and support to families and individuals affected by any rare chromosome disorder and to the professionals who work with them. Unique is a UK-based charity but welcomes members worldwide. Unique''''s Karyotype Database allows users to search the Registered Chromosome Disorders by chromosome, arm and disorder. You may have been given a diagnosis or indication of a chromosome disorder by a geneticist or other medical professional and they may have used a medical term which is unfamiliar to you. So to help you decide if Unique is the appropriate organization for you, we thought it would be useful to describe the different categories of rare chromosome disorder. Rare chromosome disorders can be grouped as structural disorders, numerical disorders and other miscellaneous disorders. Unique: * acts as an international family support group * produces a newsletter three times each year * works to promote awareness of rare chromosome disorders * arranges for families to assist in research into rare chromosome disorders * links families whose children have similar clinical and/or practical problems * works to ensure that the public at large are aware of rare chromosome disorders * works to raise funds to support the group activities and produce literature to make others more aware of our children''''s conditions * assists relevant research projects and the centralisation of information, at all times observing the need for total confidentiality * sets up local groups throughout the UK for families affected by any rare chromosome disorders and to give support and encouragement to each other * develops and maintains a comprehensive computerised database detailing the life-time effects of specific chromosome disorders on affected members * aims to hold an annual conference where families and relevant specialists can meet and be informed of the latest medical, technical and practical developments * liaises and works in co-operation, with other similar support groups and professionals world-wide for the benefit of families and individuals affected by rare chromosome disorders * ensures that hospitals, doctors, health authorities, genetic clinics and other professionals are aware of the group so that we may have early contact with families where required Membership of Unique is free but the group receives no government funding and is heavily reliant on donations and fundraising to continue its work. Please help us in whatever way you can.

Proper citation: Unique (RRID:SCR_006492) Copy   

•   Source: SciCrunch Registry

http://www.nkdep.nih.gov/lab-evaluation/gfr-calculators.shtml

Glomerular Filtration Rate (GFR) calculators to estimate kidney function for adults (MDRD GFR Calculator) and children (Schwartz GFR Calculator). In adults, the recommended equation for estimating glomerular filtration rate (GFR) from serum creatinine is the Modification of Diet in Renal Disease (MDRD) Study equation. The IDMS-traceable version of the MDRD Study equation is used. Currently the best equation for estimating glomerular filtration rate (GFR) from serum creatinine in children is the Bedside Schwartz equation for use with creatinine methods with calibration traceable to IDMS. Using the original Schwartz equation with a creatinine value from a method with calibration traceable to IDMS will overestimate GFR.

Proper citation: Glomerular Filtration Rate Calculators (RRID:SCR_006443) Copy   

•   Source: SciCrunch Registry

http://www.LOVD.nl/

Freely available tool for Gene-centered collection and display of DNA variations. It also provides patient-centered data storage and storage of Next Generation Sequencing (NGS) data, even of variants outside of genes. Please note that LOVD provides a system for storage of information on genes and allelic variants. To obtain information about any genes or variants, do not download the LOVD package. This information should be obtained from the respective databases, http://www.lovd.nl/2.0/index_list.php In total: 2,507,027 variants (2,208,937 unique) in 170,935 individuals in 62619 genes in 88 LOVD installations. (Aug. 2013) LOVD 3.0 shared installation, http://databases.lovd.nl/shared/genes To maintain a high quality of the data stored, LOVD connects with various resources, like HGNC, NCBI, EBI and Mutalyzer. You can download LOVD in ZIP and GZIPped TARball formats.

Proper citation: Leiden Open Variation Database (RRID:SCR_006566) Copy   

•   Source: SciCrunch Registry

http://www.nkdep.nih.gov/lab-evaluation/gfr/creatinine-standardization.shtml

Standard specification to reduce inter-laboratory variation in creatinine assay calibration and therefore enable more accurate estimates of glomerular filtration rate (eGFR). Created by NKDEP''''s Laboratory Working Group in collaboration with the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) and the European Communities Confederation of Clinical Chemistry (now called the European Federation of Clinical Chemistry and Laboratory Medicine), the effort is part of a larger NKDEP initiative to help health care providers better identify and treat chronic kidney disease in order to prevent or delay kidney failure and improve patient outcomes. Recommendations are intended for the USA and other countries or regions that have largely completed standardization of creatinine calibration to be traceable to an isotope dilution mass spectrometry (IDMS) reference measurement procedure. The program''''s focus is to facilitate the sharing of information to assist in vitro diagnostic manufacturers, clinical laboratories, and others in the laboratory community with calibrating their serum creatinine measurement procedures to be traceable to isotope dilution mass spectrometry (IDMS). The program also supports manufacturers'''' efforts to encourage their customers in the laboratory to coordinate use of standardized creatinine methods with implementation of a revised GFR estimating equation appropriate for use with standardized creatinine methods. Communication resources and other information for various segments of the laboratory community are available in the Creatinine Standardization Recommendations section of the website. Also available is a protocol for calibrating creatinine measurements using whole blood devices. The National Institute for Standards and Technology (NIST) released a standard reference material (SRM 967 Creatinine in Frozen Human Serum) for use in establishing calibrations for routine creatinine measurement procedures. SRM 967 was validated to be commutable with native serum samples for many routine creatinine procedures and is useful to establish or verify traceability to an IDMS reference measurement procedure. Establishing calibrations for serum creatinine methods using SRM 967 not only provides a mechanism for ensuring more accurate measurement of serum creatinine, but also enables more accurate estimates of GFR. For clinical laboratories interested in independently checking the calibration supplied by their creatinine reagent suppliers/manufacturers, periodic measurement of NIST SRM 967 should be considered for inclusion in the lab''''s internal quality assurance program. To learn more about SRM 967, including how to purchase it, visit the NIST website, https://www-s.nist.gov/srmors/quickSearch.cfm

Proper citation: Creatinine Standardization Program (RRID:SCR_006441) Copy   

•   Source: SciCrunch Registry

http://neurosurgery.ucsf.edu/index.php/research_tissue_bank.html

The Tissue Bank began collecting tissue from neurosurgical operations in 1978 and has established an organized repository of characterized tissues that have been collected and maintained in a manner useful for a wide range of studies. Copies of each patient''s consent to donate their tissue for research are maintained in a secure area of the Tissue Bank. Clinical data from each case are logged into a secured computer data base. Tissue received into the Tissue Bank is catalogued and referenced by a consecutive numbering system in order to maintain patients'' confidentiality. We have established a complete histology service including tissue processing, embedding, sectioning and H&E staining for fixed tissues, in addition to creating and staining frozen sections. This facility enables the Tissue Bank to support research needs for fixed samples from animal model experiments, to fulfill requests for paraffin sections from diagnostic samples and to provide frozen sections for histologic review.

Proper citation: UCSF Brain Tumor Tissue Bank (RRID:SCR_006439) Copy   

•   Source: SciCrunch Registry

http://omim.org

Online catalog of human genes and genetic disorders, for clinical features, phenotypes and genes. Collection of human genes and genetic phenotypes, focusing on relationship between phenotype and genotype. Referenced overviews in OMIM contain information on all known mendelian disorders and variety of related genes. It is updated daily, and entries contain copious links to other genetics resources.

Proper citation: OMIM (RRID:SCR_006437) Copy   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/

Consortium that puts sequences into a chromosome context and provides the best possible reference assembly for human, mouse, and zebrafish via FTP. Tools to facilitate the curation of genome assemblies based on the sequence overlaps of long, high quality sequences.

Proper citation: Genome Reference Consortium (RRID:SCR_006553) Copy   

•   Source: SciCrunch Registry

http://www.usrds.org/

Annual report, standard analysis files and an online query system from the national data registry on the end-stage renal disease (ESRD) population in the U.S., including treatments and outcomes. The Annual Data Report is divided into two parts. The Atlas section displays data using graphs and charts. Specific chapters address trends in ESRD patient populations, quality of ESRD care, kidney transplantation outcomes, costs of ESRD care, Healthy People 2010 objectives, chronic kidney disease, pediatric ESRD, and cardiovascular disease special studies. The Reference Tables are devoted entirely to the ESRD population. The RenDER (Renal Data Extraction and Referencing) online data query system allows users to build data tables and maps for the ESRD population. National, state, and county level data are available. USRDS staff collaborates with members of Centers for Medicare & Medicaid Services (CMS), the United Network for Organ Sharing (UNOS), and the ESRD networks, sharing datasets and actively working to improve the accuracy of ESRD patient information.

Proper citation: United States Renal Data System (RRID:SCR_006699) Copy   

•   Source: SciCrunch Registry

https://www.nimhgenetics.org/

Collaborative venture between the National Institute of Mental Health (NIMH) and several academic institutions. Repository facilitates psychiatric genetic research by providing patient and control samples and phenotypic data for wide-range of mental disorders and Stem Cells.Stores biosamples, genetic, pedigree and clinical data collected in designated NIMH-funded human subject studies. RGR database likewise links to other repositories holding data from same subjects, including dbGAP, GEO and NDAR. Allows to access these data and biospecimens (e.g., lymphoblastoid cell lines, induced pluripotent cell lines, fibroblasts) and further expand genetic and molecular characterization of patient populations with severe mental illness.

Proper citation: NIMH Repository and Genomics Resources (RRID:SCR_006698) Copy   

•   Source: SciCrunch Registry

http://www.casacolumbia.org

A science-based organization focused on developing effective solutions to address the disease of addiction and reduce the risks associated with substance use. CASAColumbia works to: * Close the gap between what is known about addiction and what is actually done to prevent and treat it * Incorporate addiction prevention and treatment into routine health care and medical practice * Explore the possibility of finding a cure Founded by Former U.S. Secretary of Health, Education, and Welfare Joseph A. Califano, Jr., CASA remains the only national organization that assembles under one roof all of the professional skills needed to research and develop proven, effective ways to prevent and treat substance abuse and addiction to all substances - alcohol, nicotine as well as illegal, prescription and performance enhancing drugs - in all sectors of society. CASAColumbia is committed to understanding the science of addiction and its implications for health care, public policy and public education.

Proper citation: CASA (RRID:SCR_006607) Copy   

•   Source: SciCrunch Registry

https://www.fludb.org/brc/home.spg?decorator=influenza

The Influenza Research Database (IRD) serves as a public repository and analysis platform for flu sequence, experiment, surveillance and related data.

Proper citation: Influenza Research Database (IRD) (RRID:SCR_006641) Copy   

•   Source: SciCrunch Registry

http://www.nactem.ac.uk/GREC/

A semantically annotated corpus of 240 MEDLINE abstracts (167 on the subject of E. coli species and 73 on the subject of the Human species) intended for training information extraction (IE) systems and/or resources which are used to extract events from biomedical literature. The corpus has been manually annotated with events relating to gene regulation by biologists. Each event is centered on either a verb (e.g. transcribe) or nominalized verb (e.g. transcription) and annotation consists of identifying, as exhaustively as possible, the structurally-related arguments of the verb or nominalized verb within the same sentence. Each event argument is then assigned the following information: * A semantic role from a fixed set of 13 roles which are tailored to the biomedical domain. * A biomedical concept type (where appropriate). The corpus in available for download in 2 formats: * A standoff format, based on the BioNLP'09 Shared Task format * An XML format, based on the GENIA event annotation format

Proper citation: GREC Corpus (RRID:SCR_006719) Copy   

•   Source: SciCrunch Registry

http://www.innatedb.com

Publicly available database of the genes, proteins, experimentally-verified interactions and signaling pathways involved in the innate immune response of humans, mice and bovines to microbial infection. The database captures coverage of the innate immunity interactome by integrating known interactions and pathways from major public databases together with manually-curated data into a centralized resource. The database can be mined as a knowledgebase or used with the integrated bioinformatics and visualization tools for the systems level analysis of the innate immune response. Although InnateDB curation focuses on innate immunity-relevant interactions and pathways, it also incorporates detailed annotation on the entire human, mouse and bovine interactomes by integrating data (178,000+ interactions & 3,900+ pathways) from several of the major public interaction and pathway databases. InnateDB also has integrated human, mouse and bovine orthology predictions generated using Ortholgue software. Ortholgue uses a phylogenetic distance-based method to identify possible paralogs in high-throughput orthology predictions. Integrated human and mouse conserved gene order and synteny information has also been determined to provide further support for orthology predictions. InnateDB Capabilities: * View statistics for manually-curated innate immunity relevant molecular interactions. New manually curated interactions are submitted weekly. * Search for genes and proteins of interest. * Search for experimentally-verified molecular interactions by gene/protein name, interaction type, cell type, etc. * Search genes/interactions belonging to 3,900 pathways. * Visualize interactions using an intuitive subcellular localization-based layout in Cerebral. * Upload your own list of genes along with associated gene expression data (from up to 10 experimental conditions) to interactively analyze this data in a molecular interaction network context. Once you have uploaded your data, you will be able to interactively visualize interaction networks with expression data overlaid; carry out Pathway, Gene Ontology and Transcription Factor Binding Site over-representation analyses; construct orthologous interaction networks in other species; and much more. * Access curated interaction data via a dedicated PSICQUIC webservice.

Proper citation: InnateDB (RRID:SCR_006714) Copy   

•   Source: SciCrunch Registry

http://www.asn-online.org/

Society leading the fight against kidney disease by educating health professionals, sharing new knowledge, advancing research, and advocating the highest quality care for patients. To accomplish its mission, ASN will: # Educate health professionals by increasing the value of ASN education. # Share new knowledge by improving the quality and expanding the reach of ASN''s communications, including maintaining the premier publications in kidney disease. # Promote the highest quality care by serving as the professional organization informing health policy in kidney disease. # Advance patient care and research in kidney disease by strengthening the pipeline of clinicians, researchers, and educators. To accomplish this goal, ASN will: ## Implement a strategy to increase interest in nephrology careers, which includes promoting diversity within the nephrology workforce. ## Help fund travel to ASN educational activities for physicians and researchers training in the field of kidney disease. ## Use the ASN Grants Program to support outstanding research and foster career development. # Continue to bolster the ASN infrastructure, which includes: ## Increasing diversityincluding age and experience, ethnicity, and genderat all levels of the society. ## Providing avenues for helping ASN members facilitate professional exchange. ## Expanding ASN membership. ## Increasing the ASN Council-Designated Endowment Fund (independent of operational budget) to support grants and other priorities

Proper citation: ASN - American Society of Nephrology (RRID:SCR_006709) Copy   

•   Source: SciCrunch Registry

http://pid.nci.nih.gov

THIS RESOURCE IS NO LONGER IN SERVICE, documented on July 27, 2016. Curated database of information about known biomolecular interactions and key cellular processes assembled into signaling pathways. All interactions are assembled into pathways, and can be accessed by performing searches for biomolecules, or processes, or by viewing predefined pathways. This was a collaborative project between the NCI and Nature Publishing Group (NPG) from 2006 until September 22nd, 2012, and is no longer being updated. PID is aimed at the cancer research community and others interested in cellular pathways, such as neuroscientists, developmental biologists, and immunologists. The database focuses on the biomolecular interactions that are known or believed to take place in human cells. It can be browsed as an online encyclopedia, used to run computational analyses, or employed in ways that combine these two approaches. In addition to PID''''s predefined pathways, search results are displayed as dynamically constructed interaction networks. These features of PID render it a useful tool for both biologists and bioinformaticians. PID offers a range of search features to facilitate pathway exploration. Users can browse the predefined set of pathways or create interaction network maps centered on a single molecule or cellular process of interest. In addition, the batch query tool allows users to upload long list(s) of molecules, such as those derived from microarray experiments, and either overlay these molecules onto predefined pathways or visualize the complete molecular connectivity map. Users can also download molecule lists, citation lists and complete database content in extensible markup language (XML) and Biological Pathways Exchange (BioPAX) Level 2 format. The database is supplemented by a concise editorial section that includes specially written synopses of recent important research articles in areas related to cancer research, and specially commissioned Bioinformatics Primers that provide practical advice on how to make the most of other relevant online resources. The database and editorial content are updated monthly, and users can opt to receive a monthly email alert to stay informed about new content. Note: as of September 23, 2012 the PID is no longer being actively curated. NCI will maintain the PID website and data for twelve months beyond September 2012 to allow interested parties to obtain the previously curated data before the site is retired in September 2013.

Proper citation: Pathway Interaction Database (RRID:SCR_006866) Copy   

•   Source: SciCrunch Registry

http://www.chuq.qc.ca/fr/

Network of three teaching hospitals affiliated with the medical school of Université Laval and several specialized institutions in Quebec City.

Proper citation: University of Quebec Hospital Centre; Quebec; Canada (RRID:SCR_006740) Copy   

•   Source: SciCrunch Registry

https://fitbir.nih.gov/

Platform for Traumatic Brain Injury relevant data. System was developed to share data across entire TBI research field and to facilitate collaboration between laboratories and interconnectivity between informatics platforms. FITBIR implements interagency Common Data Elements for TBI research and provides tools and resources to extend data dictionary. Established submission strategy to ensure high quality and to provide maximum benefit to investigators. Qualified researchers can request access to data stored in FITBIR and/or data stored at federated repositories.

Proper citation: Federal Interagency Traumatic Brain Injury Research Informatics System (RRID:SCR_006856) Copy   

•   Source: SciCrunch Registry