1. Home
  2. List
Reference Patent

Reference - List

  • 108 Hits
  • Search Condition : Filter (MeSH = Mutation, Missense)
Species Resource Title
C.elegans tmC5 , tmIs1220 Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
C.elegans tm1133 The Juvenile Parkinson's Disease Mutation C212Y Impairs Mitochondrial Homeostasis in a Caenorhabditis elegans Model.
Human and Animal Cells 409B2(HPS0076) Cytokine-Induced Cytotoxicity and Extracellular Matrix Abnormalities in Hepatocytes Derived From RAD50-Interacting Protein 1-Deficient Induced Pluripotent Stem Cells.
Zebrafish Tg(CM-isl1:GFP)rw0 Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.
Zebrafish Tg (zCREST2-hsp70:GFP)rw011 A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.
Clawed frogs / Newts Xenopus genomic database , Technical assistance Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB.
Arabidopsis / Cultured plant cells, genes pst21828 A novel allele of the Arabidopsis thaliana MACPF protein CAD1 results in deregulated immune signaling.
Human and Animal Cells G-415(RCB2640) , TGBC2TKB(RCB1130) Establishment and characterization of a new human gallbladder carcinoma cell line.
Human and Animal Cells SRA 01/04(RCB1591) Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.
Human and Animal Cells HiDEP-1(RCB4554) GAPDH is involved in the heme-maturation of myoglobin and hemoglobin.
C.elegans tm2979 Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
Drosophila DGRC#116669 , DGRC#116715 , DGRC#116750 , DGRC#116605 , DGRC#116608 , DGRC#116671 , DGRC#116689 , DGRC#116597 , DGRC#116684 , DGRC#116700 , ... Notch Missense Mutations in Drosophila Reveal Functions of Specific EGF-like Repeats in Notch Folding, Trafficking, and Signaling.
Prokaryotes E. coli JW3841-KC First description of a clinical glutamine-dependent Escherichia coli with a missense mutation in the glnA
Human and Animal Cells 253G1(HPS0002) A single mutation in the E2 glycoprotein of hepatitis C virus broadens the claudin specificity for its infection.
Human and Animal Cells NALM-6(RCB1933) A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
Drosophila DGRC#108284 Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Drosophila DGRC#109594 Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
Human and Animal Cells TE-1(RCB1894) , TE-4(RCB2097) , TE-5(RCB1949) , TE-8(RCB2098) , TE-9(RCB1988) , TE-10(RCB2099) , TE-11(RCB2100) , TE-14(RCB2101) APR-246 induces apoptosis and enhances chemo-sensitivity via activation of ROS and TAp73-Noxa signal in oesophageal squamous cell cancer with TP53 missense mutation.
Human and Animal Cells MKN45(RCB1001) Combined drug action of 2-phenylimidazo[2,1-b]benzothiazole derivatives on cancer cells according to their oncogenic molecular signatures.
Human and Animal Cells 409B2(HPS0076) Reduced purine biosynthesis in humans after their divergence from Neandertals.