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  • Search Condition : Filter (MeSH = Mutation, Missense / genetics)
Species Resource Title
Human and Animal Cells 293T(RCB2202) A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.
C.elegans tm1502 Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.
C.elegans tm925 , tm2547 Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
Drosophila , Human and Animal Cells 293T(RCB2202) Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
DNA material pMRX-bsr-EGFP-hRab27A (RDB18647) , pMRX-bsr-EGFP-hRab27A-V143A (RDB18648) Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Human and Animal Cells CW-2(RCB0778) Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Mice GSC0164 ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
C.elegans tm3103 , tm752 Protein phosphatase 2A is crucial for sarcomere organization in Caenorhabditis elegans striated muscle.
C.elegans tm536 Genetic and cellular sensitivity of Caenorhabditis elegans to the chemotherapeutic agent cisplatin.
Human and Animal Cells 293(RCB1637) Genetic basis of calcifying cystic odontogenic tumors.
C.elegans tm3456 The Caenorhabditis elegans gene mfap-1 encodes a nuclear protein that affects alternative splicing.
C.elegans tm925 , tm2452 Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.
C.elegans tm1552 The DEG/ENaC protein MEC-10 regulates the transduction channel complex in Caenorhabditis elegans touch receptor neurons.
C.elegans tm3100 Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance.
Human and Animal Cells NIAS-AeAl-2(RCB0277) Wolbachia from the planthopper Laodelphax striatellus establishes a robust, persistent, streptomycin-resistant infection in clonal mosquito cells.
Human and Animal Cells Radiation sensitivities of 31 human oesophageal squamous cell carcinoma cell lines.
Human and Animal Cells 3T3 fibroblast cells from a BALB/c mouse Genetic polymorphisms and antiviral activity in the bovine MX1 gene.
Human and Animal Cells Hep G2 Inhibitory effect of 5β-pregnane-3α,20β-diol on transcriptional activity and enzyme activity of human bilirubin UDP-glucuronosyltransferase.
Human and Animal Cells PC-9(RCB4455) Effect of sialylation on EGFR phosphorylation and resistance to tyrosine kinase inhibition.
Rats F344-Scn1am1Kyo (strainID=716) Methylphenidate improves learning impairments and hyperthermia-induced seizures caused by an Scn1a mutation.