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http://www.FH-HUS.org

The database has now been updated to include ALL mutations found in HUS patients, including those in Factor I(FI) and Membrane (MCP). Homology models are available for the domains of FI and MCP and all analysis previously available for Factor H (FH) are now also available for FI and MCP. All SNP records for FH, FI and MCP are also now included in the database on the SNP pages. Only those SNPs within coding regions will be included in the full list of mutations and within the advanced search. For more information on the different versions of the database click here. We have also redesigned the site in order to display information more clearly. Please let us know what you think of the new design. Home Information Mutations Models References Links Submit Contact Us Help Collaborators NEWS !! SEP 2009 The database has now been recovered. Please report any bugs that you notice. NEWS !! MAY 2009 We have suffered from a complete server failure this month but these issues have been sorted out and work is being carried out to restore all the data within our FH-HUS database. Sorry for any inconvenience this may have caused. NEWS !! JAN 2007 Mutations within complement Factor B have also been associated with aHUS. (Goicoechea de Jorge et al., 2007) NEW !! Nov 2006 FH-HUS Database Version 2.1 The database has now been updated to include ALL mutations found in HUS patients, including those in Factor I(FI) and Membrane (MCP). Homology models are available for the domains of FI and MCP and all analysis previously available for Factor H (FH) are now also available for FI and MCP. All SNP records for FH, FI and MCP are also now included in the database on the SNP pages. Only those SNPs within coding regions will be included in the full list of mutations and within the advanced search. For more information on the different versions of the database click here. We have also redesigned the site in order to display information more clearly. Please let us know what you think of the new design. Quick Search Enter Codon No : Choose Protein : Advanced Search Have you or someone you know been diagnosed with aHUS? The information contained on this web site is provided for scientific research purposes only. We do not give medical advice or recommend any particular treatment for specific individuals. Here are several links for patient information on aHUS: http://renux.dmed.ed.ac.uk/ http://en.wikipedia.org/ http://kidney.niddk.nih.gov http://www.webmd.com HUS HUS (Haemolytic Uraemic Syndrome) is a disease associated with microangiopathic haemolytic anemia, thrombocytopenia and acute renal failure. A subgroup of the syndrome is strongly associated with abnormalities within the complement regulator factor H gene. To read information on HUS click here. To read information on Factor H (FH) click here. FH Mutations There are currently 74 Factor H mutations, 10 Factor I mutations and 25 MCP mutations linked with HUS patients within this database. There are also 5 mutations within FH that are associated with MPGN patients. . Following HGVS guidelines, mutations are numbered starting from the ATG initiation codon and include the 18-residue signal peptide. The number of the codon with respect to the mature FH protein and consistent with the RSCB PDB entry for secreted FH (1haq.pdb) is shown alongside in parenthesis. Type I and Type II Phenotype Type I indicates that the mutant protein is either absent from the plasma or present in lower amounts. This indicates the mutation has a structural effect on the mutant protein - ie reducing the stability Type II indicates that the mutant protein is present in normal amounts in plasma. This indicates that the mutation has a functional effect on the protein ie affecting substrate binding References There are three references you can use to reference this database Saunders et al, 2007. The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. Hum Mutat. 2007 28:222-234. Saunders et al, 2006. An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations. Hum Mutat. 2006 27:21-30. Saunders & Perkins, 2006. A user''s guide to the interactive Web database of factor H-associated hemolytic uremic syndrome. Semin Thromb Hemost. 2006 32:160-8. Abstract. BACKGROUND: cblC disease is a cause of hemolytic uremic syndrome (HUS), which has been primarily described in neonates and infants with severe renal and neurological lesions. PATIENTS: Two sisters aged 6 and 8.5 years presented with a latent hemolytic process characterized by undetectable or low plasma haptoglobin, respectively, associated with renal failure and gross proteinuria. Renal biopsies performed in both patients found typical findings of thrombotic microangiopathy suggesting the diagnosis of HUS. Both patients were free of neurologic signs. RESULTS: Biochemical investigations found a cobalamin processing deficiency of the cblC type. Search for additional factors susceptible to worsen endothelial damage revealed homozygosity 677C--> T mutation in the methylenetetrahydrofolate reductase gene as well as heterozygosity for a 3254T--> C mutation in factor H in the patient with the most severe clinical presentation. Long-term subcutaneous administration of hydroxocobalamin in combination with oral betaine and folic acid resulted in clinical and biological improvement in both patients. CONCLUSION: cblC disease may be a cause of chronic HUS with delayed onset in childhood. Superimposed mutation of factor H gene might influence clinical severity.

Proper citation: FH HUS Mutation Database (RRID:SCR_008512) Copy   

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http://www.zf-models.org/

ZF-MODELS - Zebrafish Models for Human Development and Disease is an Integrated Project funded by the European Commission as part of its Sixth Framework Programme (EC Contract LSHG-CT-2003-503496). The project started on January 1, 2004 and is scheduled to run over a period of five years. The aim of this project is to exploit the advantages of the zebrafish to produce knowledge, technology and materials in the form of disease models, drug targets and insight into pathways of gene regulation applicable to human development and disease.

Proper citation: Zebrafish Models for Human Development and Disease (RRID:SCR_008595) Copy   

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http://blaster.docking.org/zinc/

Welcome to ZINC, a free database of commercially-available compounds for virtual screening. ZINC contains over 13 million purchasable compounds in ready-to-dock, 3D formats. ZINC is provided by the Shoichet Laboratory in the Department of Pharmaceutical Chemistry at the University of California, San Francisco (UCSF). To cite ZINC, please reference: Irwin and Shoichet, J. Chem. Inf. Model. 2005;45(1):177-82 PDF, DOI. We thank NIGMS for financial support (GM71896). There are release notes for ZINC 10. - We have a survey where you can give us feedback.

Proper citation: Zinc (RRID:SCR_008596) Copy   

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http://bmbpcu36.leeds.ac.uk/RE1db_mkII/

THIS RESOURCE IS NO LONGER IN SERVICE, documented on July 15, 2013. A database containing all genomic human and mouse binding sites of the Repressor Element 1 Silencing Transcription factor (REST), identified by PSSM. The RE1 silencing transcription factor (REST; also known as the neuron-restrictive silencer factor), is a nine zinc-finger transcription factor, related to the Gli-Kruppel family. REST binds to a conserved 21-nucleotide element, known as repressor element 1 (RE1; also known as the neuron-restrictive silencer element). REST was proposed to be a ''master'' silencer of neuron specific gene expression in non-neuronal tissues and undifferentiated neuroepithelium (precursor of neuronal cells), preventing the default expression of the neuronal phenotype during embryogenesis. It has been shown to function independently of orientation and distance from a gene promoter. REST has an important role during embryonic development, as homozygous gene knockout mice (Rest-/-) die by embryonic day 11.5. The constitutive expression of REST has also been shown to disrupt neuronal gene expression and cause axon path finding errors in chicken embryos (Paquette et al. 2000). RE1 sequences that are known to bind REST have also been found near to non-neuronal genes, including keratin and cytochrome P450 genes.

Proper citation: Neuron-Restrictive Silencer Factor (RRID:SCR_008546) Copy   

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http://discovermagazine.com/

Popular science magazine which includes news and blogs on topics including Health & Medicine, Mind & Brain, Technology, Space, Human origins, Living World, Environment, and Physics & Math. NIF Indexes include: The Brain: DISCOVER blogger, columnist, and contributing editor Carl Zimmer''s monthly column will make your brain happy. Discover Interview: The magazine''s signature in-depth discussion with the leading lights of the world of science Vital Signs: A medical mystery, as written by the doctor involved.

Proper citation: Discover Magazine (RRID:SCR_008787) Copy   

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http://alizadehlab.stanford.edu/

This is an open-source Mouse Exonic Evidence-Based Oligonucleotide Chip (MEEBOChip), and are in the process of building the human counterpart, HEEBOChip. The set of 70mers for MEEBOChip is already available from Illumina, Inc., with synthesis of HEEBOChip 70mers in progress. Both arrays are based on a novel selection of exonic long-oligonucleotides (70-mers) from a genomic annotation of the corresponding complete genome sequences, using a transcriptome-based annotation of exon structure for each genomic locus. Using a combination of existing and custom-tailored tools and datasets (including millions of mRNA and EST sequences), we built and performed a systematic examination of transcript-supported exon structure for each genomic locus at the base-pair level (i.e., exonic evidence). This strategy allowed them to select both constitutive and in many cases alternative exons for nearly every gene in the corresponding genome (e.g., protocadherin locus), allowing an unprecedented exploration of human and mouse biology. Furthermore, they used experimentally derived data to hone the selection of these 70mers, helping maximize their performance under typical fluorescent labeling and hybridization conditions. Specifically, they applied and refined the ArrayOligoSelector algorithm from Joe DeRisis laboratory to select 70mers, considering not only their uniqueness (i.e., hybridization specificity) within the content of the entire genome, but also to overcome the known biases of labeling and hybridization methods (e.g., 3-biased reverse transcription and in vitro transcription reactions).

Proper citation: Alizadehlab: MeeboChip and HeeboChip Open Source Project (RRID:SCR_008384) Copy   

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http://HIVBrainSeqDB.org

The HIV Brain Sequence Database (HIVBrainSeqDB) is a public database of HIV envelope sequences, directly sequenced from brain and other tissues from the same patients. For inclusion in the database, sequences must: (i) be deposited in Genbank; (ii) include some portion of the HIV env region; (iii) be clonal, amplified directly from tissue; and (iv) be sampled from the brain, or sampled from a patient for which the database already contains brain sequence. Sequences are annotated with clinical data including viral load, CD4 count, antiretroviral status, neurocognitive impairment, and neuropathological diagnosis, all curated from the original publication. Tissue source is coded using an anatomical ontology, the Foundational Model of Anatomy, to capture the maximum level of detail available, while maintaining ontological relationships between tissues and their subparts. 44 tissue types are represented within the database, grouped into 4 categories: (i) brain, brainstem, and spinal cord; (ii) meninges, choroid plexus, and CSF; (iii) blood and lymphoid; and (iv) other (bone marrow, colon, lung, liver, etc). Currently, the database contains 2517 envelope sequences from 90 patients, obtained from 22 published studies. 1272 sequences are from brain; the remaining 1245 are from blood, lymph node, spleen, bone marrow, colon, lung and other non-brain tissues. The database interface utilizes a faceted interface, allowing real-time combination of multiple search parameters to assemble a meta-dataset, which can be downloaded for further analysis. This online resource will greatly facilitate analysis of the genetic aspects of HIV macrophage tropism, HIV compartmentalization and evolution within the brain and other tissue reservoirs, and the relationship of these findings to HIV-associated neurological disorders and other clinical consequences of HIV infection.

Proper citation: HIV Brain Sequence Database (RRID:SCR_008819) Copy   

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http://www.demogr.mpg.de/databases/ktdb/

A database that includes data on death counts and population counts classified by sex, age, year of birth, and calendar year for more than 30 countries. This database was established for estimating the death rates at the highest ages (above age 80). The core set of data in the database was assembled, tested for quality, and converted into cohort mortality histories by V��in�� Kannisto, the former United Nations advisor on demographic and social statistics. Comparable materials on England and Wales, was made available by A. Roger Thatcher, the former Director of the Office of Population Censuses and Surveys and Registrar-General of England and Wales (Kannisto, 1994). The Kannisto-Thatcher database was computerized under the supervision of James W. Vaupel at the Aging Research Unit of the Centre for Health and Social Policy at Odense University Medical School in 1993. Currently, the database is maintained by the Max Planck Institute for Demographic Research, Germany.

Proper citation: Kannisto-Thatcher Database on Old Age Mortality (RRID:SCR_008936) Copy   

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http://www.embase.com

You can begin your search immediately using the Quick form on the home page or you can access the other specialized search forms in Embase. You can choose any section from the options on the top menu bar: Search, Emtree, Journals, Authors, or Help. You can start to search without logging in but if you would like to set up an email alert or save a search, then you may Login or Register from the upper-right part of the screen. Note: if you are outside your institution IP range, you will first be directed to the info site before accessing the Embase Home page. For more information on remote access, please see Login section. Search Forms Search is at the core of Embase and all search forms are designed to allow you to look for biomedical and pharmaceutical clinical and research information easily and quickly, whether you are a new or experienced searcher. The Embase search engine allows Boolean searching with wildcard and truncation features, as well as many predefined search limits. Search is divided into five options: Quick, Advanced, Drug, Disease and Article. Quick lets you perform easy yet powerful searches without having to learn a complex search language. It is perfect if you are starting your research and looking for an overview of the literature or good terms to include in your search strategy. Autocomplete will help you to search using the bext terminology. Advanced incorporates options from Emtree term mapping including explosion searching for maximum precision in subject searching (see Emtree) and Drug and Disease provide access to specialized features useful to search these topics, such as ''Adverse Drug Reaction''''Drug Combination''. Generally speaking, drug searches are best carried out in the Drug form, diseases in the Disease form and non-drug and disease searches in the Advanced form. Article allows you to pinpoint individual articles. Embase is owned and operated by Elsevier B.V., Radarweg 29, 1043 NX Amsterdam, The Netherlands, Reg. No. 33156677, BTW No. 002967455B65 (Elsevier).

Proper citation: Embase Biomedical Answers (RRID:SCR_008498) Copy   

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http://www.emsdiasum.com

A complete online Product Catalog of chemicals, supplies, accessories, and equipment for Electron and Light Microscopy, Histology, Cell Biology, Neuroscience, and all biological related research fields. At the site, you can find technical tips and recommended articles of interest, technical and product data sheets, Material Safety Data Sheets, and many revolutionary new products and exclusive items. A complete product catalog of the entire Diatome collection of Diamond knives, tools, and accessories for Electron and Light microscopy for Biological and Materials Science at room and cryo temperatures. Available on-line as well is information on our services, programs, specials, and policies. The complete handling and use technical manual as well as troubleshooting can also be found at our site. The Summers Optical on-line catalog including a complete line of optical cements and adhesives, decementing agents, hardness testers, ultrasonic baths and UV lights as well as technical and transmission data and problem solving can be found at this site. As well as, our unique bonding manual including troubleshooting and charts for how to choose a cement for specific applications and a complete set of MSDS on all of our products can be seen here. EMS Contract Packaging is a total service contract manufacturer, packager, and formulator with over 40 years experience in drug and cosmetic formulating and packaging. Negafile furniture quality wood filing systems and storage cases for grids, negatives, film and microscope glass slides. And a full line of shipping and packaging solutions for all your traditional or digital media.

Proper citation: Emsdiasum (RRID:SCR_008497) Copy   

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http://rd.plos.org/pbio.0050257

Resources for macromolecular X-ray crystallography from the Richardson Laboratory, including kinemages (a scientific illustration presented as an interactive computer display), databases, software, training materials and images

Proper citation: 3D Macromolecular Analysis and Kinemage Home Page (RRID:SCR_008569) Copy   

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http://www.molecularbrain.org/

MolecularBrain is an attempt to collect, collates, analyze and present the microarray derived gene expression data from various brain regions side by side. Transcription Profile of any gene in Mouse (online) and Human Brain (not yet) can be accessed as a histogram along with links to access various aspects of that gene. The expression levels were calculated from microarray data deposited at GEO (Gene expression omnibus). The molecular brain database could be searched using the built in search tool with the terms Entrez GeneID, gene symbol, synonym or description. Gene information along with their expression values can be also accessed from the alphabetical list of gene symbols on the footer. The protocol and GEO sample information is available.

Proper citation: Molecular Brain: Transcription Profiles of Mouse and Human Brains (RRID:SCR_008689) Copy   

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http://www.BioMedSearch.com

BioMedSearch is a biomedical search engine that contains NIH/PubMed documents, plus a large collection of theses, dissertations, and other publications not found anywhere else for free, making it the most comprehensive free search on the web. :Besides free-form search, users can search based on Author, Journal Title, Publication Date, the Language in which the article was published (many non-English articles have English language abstracts), MeSH (Medical Subject Headings) and more. : The goal of BioMedSearch.com is to provide free access to a massive collection of authoritative documents relating to the biomedical field. Our mission is to make these important works available to the community in a way that is fast and easy, while still offering the advanced features demanded by power users such as portfolios, collaboration features, bibliographical citation export, alerts, and more. Whether you are doctor, scientist, or someone interested in researching a medical topic out of personal interest, BioMedSearch aggregates a vast number of authoritative documents in one place to make finding medical information easy, fast and free.

Proper citation: Biomedical Search: Medical Research and Health Resources (RRID:SCR_008683) Copy   

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http://bioinf.xmu.edu.cn:8080/software/CYTOSVM/cytosvm.php

Cytokines are a diverse group of cell intercellular messengers responsible for signaling variety of cell functions, such as immunity, hematopoiesis, chemotactic activities, cell maturation, proliferation, growth and differentiation through their interactions with respective receptors on cell membranes. Currently, a number of cytokines have been identified and classified

Proper citation: CytoSVM statistics (RRID:SCR_008442) Copy   

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http://rsat.ulb.ac.be/rsat/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on February 28,2023. Retrieve-ensembl-seq is included in the software suite regulatory sequence analysis tools (RSAT), allowing instant submission of retrieved sequences to further analysis tools. AVAILABILITY: retrieve-ensembl-seq is integrated in the RSAT suite: http://rsat.ulb.ac.be/rsat. Web site: http://rsat.ulb.ac.be/rsat/retrieve-ensembl-seq_form.cgi. Web services: http://rsat.ulb.ac.be/rsat/web_services/RSATWS.wsdl. Stand-alone distribution: freely available under an academic licence to download from the RSAT web site. The complete manual, a convenient tutorial and demos are available from the RSAT website. Additional help can be found on the RSAT public forum.

Proper citation: Regulatory Sequence Analysis Tools (RRID:SCR_008560) Copy   

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http://www.stanford.edu/group/exonarray/cgi-bin/plot_selector.pl

Transcriptome database of acutely isolated purified astrocytes, neurons, and oligodendrocytes. Provides improved cell-type-specific markers for better understanding of neural development, function, and disease.

Proper citation: Exon Array Browser (RRID:SCR_008712) Copy   

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http://www.functionalneurogenesis.com/blog/

A blog focusing on the function of adult neurogenesis in the dentate gyrus of the hippocampus, including discussion of scientific research papers, methods and protocols, and other trends or observations about the field.

Proper citation: Functional Neurogenesis (RRID:SCR_008830) Copy   

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http://pingstudy.ucsd.edu/

A large multi-site pediatric MRI and genetics data resource to facilitate studies of the genomic landscape of the developing human brain. It includes information about the developing mental and emotional functions of the children to understand the genetic basis of individual differences in brain structure and connectivity, cognition, and personality. Investigators on the project are studying 1400 children between the ages of 3 and 20 years so that links between genetic variation and developing patterns of brain connectivity can be examined. Investigators interested in the effects of a particular gene will be able to search the database for any brain areas or connections between areas that differ as a function of variation in a particular gene, and also to determine if the genes appear to affect the course of brain development at some point during childhood. A data exploration tool has been created for mapping and analyzing MRI data sets collected for PING and related developmental studies. Approved investigators will be able to view raw image sets and derived 3D brain maps of MRI and DTI data, conduct hypothesis testing, and graph brain area measures as they change across the time course of development. PING Cores * Coordinating Core: Functions include project management, screening of participants and maintaining the database * Neuroimaging Core: applying a standardized high-resolution structural MRI protocol involving 3-D T1-weighted scans, a T2-weighted volume, and a set of diffusion-weighted scans with multiple b values and diffusion directions, scans to estimate MRI relaxation rates, and gradient echo EPI scans for resting state fMRI. Importantly, adaptive motion compensation, using ����??PROMO����??, a novel real-time motion correction algorithm will be used. Specific PING protocols for each scanner manufacturer: ** PING MRI Protocol - GE ** PING MRI Protocol - Philips ** PING MRI Protocol - Siemens * Assessment Core: Cognitive assessments for the PING project are conducted using the NIH Toolbox for Cognition. * Genomics Core: functions as a central repository for receipt of saliva samples collected for each study participant. Once received, samples are catalogued, maintained, and DNA is extracted using state-of-the-field laboratory techniques. Ultimately, genome-wide genotyping is performed on the extracted DNA using the Illumina Human660W-Quad BeadChip. PING involves 10 sites throughout the country including UCSD, University of Hawaii, Scripps Genomics, UCLA, UC Davis, Kennedy Krieger Institute/Johns Hopkins, Sacker Institute/Cornell University, University of Massachusetts, Massachusetts General Hospital/Harvard, and Yale. Families who may want to participate in the study, or others who want to know more about it, may email questions to ping (at) ucsd.edu.

Proper citation: Pediatric Imaging Neurocognition and Genetics (RRID:SCR_008953) Copy   

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http://recombineering.ncifcrf.gov/

Recombineering (recombination-mediated genetic engineering) is a powerful method for fast and efficient construction of vectors for subsequent manipulation of the mouse genome or for use in cell culture experiments. It is also an efficient way of manipulating the bacterial genome directly. Recombineering is a method based on homologous recombination in E. Coli using recombination proteins provided from ? phage. Our bacterial strains contain a defective ? prophage inserted into the bacterial genome. The phage genes of interest, exo, bet, and gam, are transcribed from the ?PL promoter. This promoter is repressed by the temperature-sensitive repressor cI857 at 32C and derepressed (the repressor is inactive) at 42C. When bacteria containing this prophage are kept at 32C no recombination proteins are produced. However, after a brief (15 minutes) heat-shock at 42C a sufficient amount of recombination proteins are produced. exo is a 5''-3'' exonuclease that creates single-stranded overhangs on introduced linear DNA. bet protects these overhangs and assists in the subsequent recombination process. gam prevents degradation of linear DNA by inhibiting E. Coli RecBCD protein. Linear DNA (PCR product, oligo, etc.) with sufficient homology in the 5'' and 3'' ends to a target DNA molecule already present in the bacteria (plasmid, BAC, or the bacterial genome itself) can be introduced into heat-shocked and electrocompetent bacteria using electroporation. The introduced DNA will now be modified by exo and bet and undergo homologous recombination with the target molecule. The method is so efficient that co-electroporation of a supercoiled plasmid and a linear piece of DNA into heat-shocked, electrocompetent bacteria will work as well.

Proper citation: Recombineering Information (RRID:SCR_008556) Copy   

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http://biobehavioural.blogspot.com/

THIS RESOURCE IS NO LONGER IN SERVCE, documented September 6, 2016. Biobehavioral blog on research and medicine as a continuum from biological mechanisms to behavioural phenomena., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: Biobehavioral (RRID:SCR_008710) Copy   

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