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  • 79 Hits
  • Search Condition : Filter (MeSH = Mutation, Missense)
Species Resource Title
Human and Animal Cells HuH-28(RCB1943) Establishment and characterization of a human intrahepatic cholangiocarcinoma cell line derived from an Italian patient.
Human and Animal Cells MDCK(RCB0995) Dynamic behaviors of vimentin induced by interaction with GlcNAc molecules.
DNA material Genome Network Project Human cDNA IRAK049F12 (HGX019732) TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
C.elegans tm6139 Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
C.elegans tm2752 , tm522 , tm9711 , tm5775 , tm6473 , tm1072 , tm3577 , tm6649 , tm4671 , tm3318 , ... Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation.
Yeast A tel2 Mutation That Destabilizes the Tel2-Tti1-Tti2 Complex Eliminates Rad3ATR Kinase Signaling in the DNA Replication Checkpoint and Leads to Telomere Shortening in Fission Yeast.
C.elegans tm7084 The THO Complex Coordinates Transcripts for Synapse Development and Dopamine Neuron Survival.
Human and Animal Cells 293(RCB1637) Structural instability of IκB kinase β promotes autophagic degradation through enhancement of Keap1 binding.
DNA material 8x3'Gli-BS-delta51-LucII (RDB08061) Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
DNA material pEF6-FLAG-human IRAK1 (RDB16723) , pCDNA3-FLAG-human TRAF6 (RDB16722) , pEF6-Myc-mouse Optineurin (RDB16718) , pEF6-Myc-mouse Optineurin(E50K) (RDB16719) , pEF6-Myc-mouse Optineurin(D474N) (RDB16720) , pEF6-Myc-mouse Optineurin(H486R) (RDB16721) Identification of optineurin as an interleukin-1 receptor-associated kinase 1-binding protein and its role in regulation of MyD88-dependent signaling.
Rice Induced mutation line The rice endosperm ADP-glucose pyrophosphorylase large subunit is essential for optimal catalysis and allosteric regulation of the heterotetrameric enzyme.
Prokaryotes E. coli Assembling flagella in Salmonella mutant strains producing a type III export apparatus without FliO.
C.elegans tm1081 Chromophore-Assisted Light Inactivation of Mitochondrial Electron Transport Chain Complex II in Caenorhabditis elegans.
Human and Animal Cells 293T(RCB2202) The cysteine-rich domain of TET2 binds preferentially to mono- and dimethylated histone H3K36.
C.elegans tm1817 F-Box Protein XREP-4 Is a New Regulator of the Oxidative Stress Response in Caenorhabditis elegans.
Zebrafish Tg(6xTcf/LefBS-miniP:d2EGFP) Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
Medaka cDNA clone (olsp35n14) , MT1117 OlTGB(del8) , MT1116 OlTGB(del7) , OK-Cab (MT870) Biochemical characterization of a medaka (Oryzias latipes) orthologue for mammalian Factor XIII and establishment of a gene-edited mutant.
Zebrafish Tg(CM-isl1:GFP) Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
Rice Induced mutation line superwoman1-cleistogamy, a hopeful allele for gene containment in GM rice.
Rats KZ-Leprfa/Tky (strainID=32) , KZC/Tky (strainID=20) Genetic profiling of two phenotypically distinct outbred rats derived from a colony of the Zucker fatty rats maintained at Tokyo Medical University.