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  • Search Condition : Filter (MeSH = Mutation, Missense)
Species Resource Title
Clawed frogs / Newts Xenopus genomic database 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.
Human and Animal Cells T98G(RCB1954) Functional characterization of 5-oxoproline transport via SLC16A1/MCT1.
DNA material , Human and Animal Cells Genome Network Project Human cDNA Clone W01A015A12 (HGE006012) , 293T(RCB2202) Identification of Endogenous Kinase Substrates by Proximity Labeling Combined with Kinase Perturbation and Phosphorylation Motifs.
Human and Animal Cells DT40(RCB1464) Hypermorphic mutation of phospholipase C, γ2 acquired in ibrutinib-resistant CLL confers BTK independency upon B-cell receptor activation.
Human and Animal Cells 293(RCB1637) Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
Human and Animal Cells KGN(RCB1154) An alternative miRISC targets a cancer-associated coding sequence mutation in FOXL2.