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Showing: 301 - 320 of 395 results
  1. Rett Syndrome

    Type
    Collection
    ...caused from loss-of-function mutations in the MECP2 gene. Causative mutations for Rett syndrome typically...within patients with the same mutation, the location and type of MECP2 mutation can be a strong predictor ...missense mutations located in the MBD, and truncations prior to the NID are more severe than mutations further...to their laboratory website. Cell Line Mutation (DNA) Mutation (protein) Sex Source of Material Publication...species (mouse or human) Mutation ID Plasmid Description Gene/Insert Mutations PI Return to top External...meet diagnostic criteria have disease-causing mutations in the gene methyl-CpG binding protein 2 ( MECP2... expressing wild-type MECP2 and half expressing mutant MECP2 . Skewing of these X inactivation ratios ...
  2. p53 Pathway

    Type
    Collection
    ...frequently mutated gene (>50%) in human cancer; most of these mutations are missense mutations in the DNA-binding...hotspot residues. These mutations can be inherited or arise through exposure to mutagens like radiation or ...PubMed PMID: 24379683 . When mutants gain new powers: news from the mutant p53 field. Brosh R, Rotter V...19776742 . Germline TP53 mutations and Li-Fraumeni syndrome. Varley JM. Hum Mutat. 2003 Mar;21(3):313-20... (e.g., HPV, the human papillomavirus). These mutations interfere with p53’s ability to activate transcription...Li-Fraumeni syndrome. Recently some impacts of p53 mutations have been characterized as gain-of-function, expanding... expanding the mechanisms by which mutant p53 is known to function in cancer. p53 Pathway Plasmids Click...
  3. Zhang Lab's CRISPR Frequently Asked Questions

    Type
    Collection
    ...span the knock-in gene. For making mutations, one good way is to mutate the PAM 'NGG' sequence in the HR...a silent mutation. When attempting to use the CRISPR/Cas9 system to create specific mutations or insertions...possible. For introducing small mutations (<50bp) or a single-point mutation, the best HR template for transfection...the introduction of a mutation into the genome, how can cells with that mutation be selected/screened?...on each side flanking your desired insertion or mutation. Each arms is around 800bp. For transfection in...the HR template, you usually would need to make mutations of the HR template to avoid this donor plasmid...being degraded by Cas9 in cells. One good way is to mutate the PAM 'NGG' in the HR template, like change it...
  4. CRISPR Guide

    Type
    Collection
    ...developed by mutating specific amino acid residues to reduce off-target editing. Some mutations disrupt interactions...off-target mutations in DNA, RNA, or both, and are recommended in contexts where such mutations would be... and a gRNA will result in a diverse array of mutations (see: Validate genetic modification ). In most...amino acid deletions, insertions, or frameshift mutations leading to premature stop codons within the open...targeted gene. The ideal result is a loss-of-function mutation within the targeted gene. However, the strength...strength of the knockout phenotype for a given mutant cell must be validated experimentally. Browse Plasmids...(nick) or no cuts. Cas9 nickase (Cas9n), a D10A mutant of SpCas9, has one active nuclease domain and one...
  5. University of Florida Serotype Testing Panel for the Eye and Brain

    Type
    Collection
    ...contains the following mutations: Y444F, Y500F, and Y730F. AAV2(4pMut)dHS The AAV2(4pMut)dHS serotype displays...21):6229-39. PMID: 26310623 AAV2(4pMut)dHS When using the AAV2(4pMut)dHS serotype in future publications...spread following injection in the brain. The AAV2(4pMut)dHS serotype was developed by Shannon Boye’s lab...It is derived from AAV2 and has the following mutations: Y444F, Y500F, Y730F, T491V, R487G, R585S, and...from the AAV6 capsid and contains the following mutations: Y705F, Y731F and T492V. AAV44.9 The AAV44.9 serotype...High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors. Mol Ther . 2009 Mar;17(3)...citations include: Bogner, et al. 2015. Capsid Mutated Adeno-Associated Virus Delivered to the Anterior...
Showing: 301 - 320 of 395 results