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Kinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo, heterozygous variants in KIF5B, encoding a kinesin-1 subunit, in four individuals with osteogenesis imperfecta. The variants cluster within the highly conserved kinesin motor domain and are predicted to interfere with nucleotide binding, although the mechanistic consequences on cell signaling and function are unknown.
Pubmed ID: 37934770
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Non-profit plasmid repository dedicated to helping scientists around the world share high-quality plasmids. Facilitates archiving and distributing DNA-based research reagents and associated data to scientists worldwide. Repository contains over 65,000 plasmids, including special collections on CRISPR, fluorescent proteins, and ready-to-use viral preparations. There is no cost for scientists to deposit plasmids, which saves time and money associated with shipping plasmids themselves. All plasmids are fully sequenced for validation and sequencing data is openly available. We handle the appropriate Material Transfer Agreements (MTA) with institutions, facilitating open exchange and offering intellectual property and liability protection for depositing scientists. Furthermore, we curate free educational resources for the scientific community including a blog, eBooks, video protocols, and detailed molecular biology resources.
View all literature mentionsSoftware performing alignment of high-throughput RNA-seq data. Aligns RNA-seq reads to reference genome using uncompressed suffix arrays.
View all literature mentionsA computer algorithm that provides a fast and quantitative estimation of the importance of the interactions contributing to the stability of proteins and protein complexes. The predictive power of FOLDEF has been tested on a very large set of point mutants (1088 mutants) spanning most of the structural environments found in proteins . FoldX uses a full atomic description of the structure of the proteins. The different energy terms taken into account in FoldX have been weighted using empirical data obtained from protein engineering experiments.
View all literature mentionsA commercial antibody supplier which supplies primary and secondary antibodies, biochemicals, proteins, peptides, lysates, immunoassays and other kits.
View all literature mentionsDatabase that aggregates exome and genome sequencing data from large-scale sequencing projects. The gnomAD data set contains individuals sequenced using multiple exome capture methods and sequencing chemistries. Raw data from the projects have been reprocessed through the same pipeline, and jointly variant-called to increase consistency across projects.
View all literature mentionsMicrosoft system includes integrated digital inverted benchtop microscope for four-color fluorescence, transmitted-light, and color imaging. Provides interchangeable optics with autofocus, single-click multi-channel image acquisition.3.2 Megapixels, monochrome, CMOS camera. Offers software for acquisition, analysis, and automated cell counting.
View all literature mentionsCenter that acquires, maintains, and distributes genetic stocks and information about stocks of the small free-living nematode Caenorhabditis elegans for use by investigators initiating or continuing research on this genetic model organism. A searchable strain database, general information about C. elegans, and links to key Web sites of use to scientists, including WormBase, WormAtlas, and WormBook are available.
View all literature mentionsCaenorhabditis elegans with name jsIs609 [mec7p::mtGFP + lin-15(+)] lin-15(n765) X GFP-tagged mitochondria expressed in TRNs [2] from WB.
View all literature mentionsCaenorhabditis elegans with name unc-116(udn44)/qC1 [dpy-19(e1259) glp-1(q339)] nIs189 III from WB.
View all literature mentionsCaenorhabditis elegans with name unc-116(gk5722udn86)/qC1 [dpy-19(e1259) glp-1(q339)] nIs189 III. from WB.
View all literature mentionsCaenorhabditis elegans with name jsSi1579 jsSi1606 [unc-116(+)] II; unc-116(udn42) III from WB.
View all literature mentionsCaenorhabditis elegans with name jsSi1579 jsSi1606 [unc-116(+)] II; unc-116(udn45) III from WB.
View all literature mentionsEscherichia coli with name E. coli. from WB.
View all literature mentionsCaenorhabditis elegans with name ijmSi3 [pJD342/pJD330; ChrI_5mex-5_cls-2reenc::GFP_3tbb-2; cb-unc-119(+)]I; unc-119(ed3) III? ; ltSi1[pOD809/pJE110; Pknl-1::KNL-1reencoded::RFP; cb-unc-119(+)]II; unc-119(ed3) III from WB.
View all literature mentionsCaenorhabditis elegans with name Caenorhabditis elegans wild isolate. from WB.
View all literature mentionsCaenorhabditis elegans with name unc-116(udn42)/qC1 [dpy-19(e1259) glp-1(q339)] nIs189 III from WB.
View all literature mentionsCaenorhabditis elegans with name jsSi1579 jsSi1606 [unc-116(+)] II; unc-116(gk5722udn86) III from WB.
View all literature mentionsCaenorhabditis elegans with name jsSi1579; wrdSi58 II. from WB.
View all literature mentionsCaenorhabditis elegans with name unc-116(udn45)/qC1 [dpy-19(e1259) glp-1(q339)] nIs189 III. from WB.
View all literature mentionsWelcome to the Neuroscience Information Framework Project, designed to serve the biomedical research community. NIF maintains the largest searchable collection of neuroscience data, the largest catalog of biomedical resources, and the largest ontology for neuroscience on the web. We welcome all feedback and suggestions and are actively looking for resource providers to make their resources accessible through NIF. Learn about the tools available to help you share your data and discover a dynamic inventory of Web-based neuroscience resources.
