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784 Possible Causes for Xenopus, Xl, erg, protein

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  • Familial Exudative Vitreoretinopathy

    Injection of wildtype and mutated FZD4 into Xenopus laevis embryos revealed that wildtype, but not mutant, frizzled-4 activated calcium/calmodulin-dependent protein kinase[ncbi.nlm.nih.gov] Two cases showed abnormal ERG, namely reduction of amplitude of oscillatory potentials, a and b wave of bright white flash ERG, scotopic and photopic b waves.[ncbi.nlm.nih.gov] BACKGROUND: Molecular analysis of the NDP gene to confirm and precise the clinical diagnosis in two patients with X-linked familial exudative vitreoretinopathy (XL-FEVR).[ncbi.nlm.nih.gov] Immunolocalization studies in COS-1 cells transfected with constructs encoding the WT and mutant ZNF408 proteins, revealed that the WT and the p.Ser126Asn mutant protein show[ncbi.nlm.nih.gov]

  • Norrie Disease

    An integumentary mucin (FIM-B.1) from Xenopus laevis homologous with von Willebrand factor. Biochemistry 29 , 6240–6244 (1990). 12 Breathnach, R. & Chambon, P.[nature.com] The ERG revealed pathological changes characteristic for chorioretinal degenerations.[ncbi.nlm.nih.gov] The previously reported p.Arg121Trp and p.Arg121Gln Norrin mutations were identified in the two families with XL-FEVR.[ncbi.nlm.nih.gov] ND has been linked to mutations in 'Norrie Disease Protein' (Ndp), which encodes the secreted protein Norrin.[ncbi.nlm.nih.gov]

  • Phenothiazine

    […] fluphenazine, phenothiazine, promazine, thioridazine, and triflupromazine) upon the function of the cloned α₇ subunit of the human nicotinic acetylcholine receptor expressed in Xenopus[ncbi.nlm.nih.gov] However, suspected cases or patients who have taken the drug at high doses should have a full evaluation of visual function that includes an ERG and monitoring comparable[aao.org] Fu DJ 1, 2, 3, 4 , Zhao RH 1, 2, 3, 4 , Li JH 1, 2, 3, 4 , Yang JJ 1, 2, 3, 4 , Mao RW 1, 2, 3, 4 , Wu BW 1, 2, 3, 4 , Li P 1, 2, 3, 4 , Zi XL 5 , Zhang QQ 1, 2, 3, 4 , Cai[ncbi.nlm.nih.gov] In this work, the molecular recognition of methylene blue by two globular proteins, hemoglobin and lysozyme was characterized by employing fluorescence, circular dichroism[ncbi.nlm.nih.gov]

  • Congenital Stationary Night Blindness

    We found no (R508Q) or only minor (L1364H) changes in the gating properties of both mutants after heterologous expression in Xenopus laevis oocytes (at 20 degrees C).[ncbi.nlm.nih.gov] Their ERGs illustrate the typical Riggs-type ERG with no rod a-wave (they have only a small cone-dominated combined response).[ncbi.nlm.nih.gov] Inheritance ClinVar HGMD CABP4 Night blindness, congenital stationary AR 6 11 CACNA1F Aland Island eye disease, Cone rod dystrophy, Night blindness, congenital stationary XL[blueprintgenetics.com] This motif is important for protein-protein interactions and members of the LRR superfamily are involved in cell adhesion and axon guidance.[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy

    The expression of the α(2)δ2-L1040P mutant instead of α(2)δ2 wild-type (WT) in Xenopus laevis oocytes was associated with a notable reduction of current density of both N[ncbi.nlm.nih.gov] Optic atrophy may be present and the ERG is abnormal in some individuals.[disorders.eyes.arizona.edu] 14; nocturnal frontal lobe epilepsy 5 AD 74 NECAP1 611623 early infantile epileptic encephalopathy 21 AR 0 PCDH19 300460 early infantile epileptic encephalopathy type 9 XL[centogene.com] SRGAP2 protein, human Supplementary concept Epileptic Encephalopathy, Early Infantile, 1[ncbi.nlm.nih.gov]

  • Retinitis Pigmentosa

    We investigated the effects of VPA on Xenopus laevis models of RP expressing human P23H, T17M, T4K, and Q344ter rhodopsins, which are associated with RP in humans.[ncbi.nlm.nih.gov] Diffuse RP had typical loss of the rod ERG and flicker timing delay.[ncbi.nlm.nih.gov] Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder.[ncbi.nlm.nih.gov] […] response and signalling network that aims to enhance the folding and degradation of misfolded proteins to restore proteostasis.[ncbi.nlm.nih.gov]

  • Vitreoretinopathy,Familial, Exudative

    Injection of wildtype and mutated FZD4 into Xenopus laevis embryos revealed that wildtype, but not mutant, frizzled-4 activated calcium/calmodulin-dependent protein kinase[ncbi.nlm.nih.gov] Two cases showed abnormal ERG, namely reduction of amplitude of oscillatory potentials, a and b wave of bright white flash ERG, scotopic and photopic b waves.[ncbi.nlm.nih.gov] BACKGROUND: Molecular analysis of the NDP gene to confirm and precise the clinical diagnosis in two patients with X-linked familial exudative vitreoretinopathy (XL-FEVR).[ncbi.nlm.nih.gov] Your Input: Neighborhood Gene Fusion Cooccurence Coexpression Experiments Databases Textmining (748 aa) 0.670 KIF11 Kinesin-like protein KIF11; Motor protein required for[string-db.org]

  • Valproic Acid

    We investigated the effects of VPA on Xenopus laevis models of RP expressing human P23H, T17M, T4K, and Q344ter rhodopsins, which are associated with RP in humans.[ncbi.nlm.nih.gov] In addition, it may be associated with decline in some ERG parameters.[ncbi.nlm.nih.gov] The MS measurements were performed on an Orbitrap LTQ XL-MS (Thermo Scientific) with HPLC (Thermo Scientific) and HTC-Pal autosampler (PAL SYSTEM).[frontiersin.org] A key characteristic of VPA is its high and saturable protein binding at higher concentrations.[ncbi.nlm.nih.gov]

  • Bardet-Biedl Syndrome 2

    Homo, H. sapiens ; Mus , Mus musculus ; Rattus , Rattus norvegicus ; Xenopus , Xenopus (silurana) tropicalis; Danio, Danio rerio; Bos, Bos taurus; Pongo, Pongo abelii; Gallus[iovs.arvojournals.org] No rod ERG-responses to dim blue light were found, even in the youngest-3 years old. No one exceeding the age of 16 had a best corrected visual acuity of more than 0.1.[lup.lub.lu.se] 602460 Deafness, autosomal dominant 15 AD 3 PRPS1 311850 Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth XL[centogene.com] The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[genecards.org]

  • Calcium Channel Blocker

    "Voltage-Dependent Blockade of Diverse Types of Voltage-Gated Ca 2 Channels Expressed in Xenopus Oocytes by the Ca 2 Channel Antagonist Mibefradil (Ro 40-5967)" .[en.wikipedia.org] The fusion of the androgen-regulated gene TMPRSS2 and the oncogene ERG (TMPRSS2:ERG or T2E) is common in PCa, and prostate tumors that harbor the gene fusion are believed[ncbi.nlm.nih.gov] Medicine: diltiazem Brand name: Adizem-SR, Adizem-XL, Angitil SR, Angitil XL, Dilcardia SR, Dilzem SR, Dilzem XL, Slozem, Tildiem, Tildiem LA, Tildiem Retard, Viazem XL, Zemtard[bupa.co.uk] […] transactive response DNA-binding protein 43 (TDP-43) and Fused in Sarcoma (FUS).[ncbi.nlm.nih.gov]