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211 Possible Causes for Cldn1, mouse, protein

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  • Harlequin Ichthyosis

    Tests Available Congenital Ichthyosis XomeDxSlice Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1[genedx.com] As part of an original recessive mouse ENU mutagenesis screen, we have identified and characterised an animal model of HI and showed that it displays many of the hallmarks[ncbi.nlm.nih.gov] […] small proline-rich proteins, and loricrin) in the epidermis of lesional skin.[ncbi.nlm.nih.gov]

  • Netherton Syndrome

    Tests Available Congenital Ichthyosis XomeDxSlice Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1[genedx.com] We show that, unlike in humans, transcription of the mouse Spink5 gene generates two mRNAs that differ in the 3' untranslated region.[ncbi.nlm.nih.gov] NS is due to loss-of-function mutations in the SPINK5 gene and to the consequent lack of expression of its encoded protein LEKTI in the skin and all stratified epithelial[ncbi.nlm.nih.gov]

  • Neuroepithelioma

    […] cell lines lacked CLDN1 and, in some cases, SR-BI.[jhu.pure.elsevier.com] This fragment was subsequently used to clone both mouse and human full length cDNAs for this gene.[ncbi.nlm.nih.gov] G protein-coupled receptors (GPCRs) are critical players in converting extracellular stimuli into intracellular signals.[ncbi.nlm.nih.gov]

  • Troglitazone

    […] non-tumorigenic human breast epithelial cell line MCF-10A are treated with 20 μM of TGZ, RGZ, D2-TGZ, or DMSO (Ctrl) for 24 h and subjected to western blot analysis with claudin-1 (CLDN1[medchemexpress.com] Abstract The aims of this study were to assess the utility of the PXB mouse model of a chimeric human/mouse liver in studying human-specific effects of an important human[ncbi.nlm.nih.gov] We report here that troglitazone augments AMP-activated protein kinase-alpha (AMPKalpha) phosphorylation, reduces p70S6 kinase phosphorylation and stimulates autophagy that[ncbi.nlm.nih.gov]

  • Escherichia Coli Infection

    From WikiPathways 1 Toxins TUBA4A Map RHOA ARPC5L Tir TUBA3E ABL1 ARPC4 CLDN1 TUBA1A EZR TUBB8 EspG ACTB ARPC1B Eae TUBB2A NCL Toll-like receptor signaling pathway Map TUBB[wikipathways.org] Intragastric challenges with EHEC (2 10(9) cfu/mouse) were conducted on d 0, 4, and 7 after treatment.[ncbi.nlm.nih.gov] Protein kinase C (PKC), a serine- and threonine-directed protein kinase, is rapidly activated following EPEC infection and this is accompanied by its translocation to a membrane-bound[ncbi.nlm.nih.gov]

  • Sjogren-Larsson Syndrome

    The FALDH gene (ALDH3A2) in man and mouse consists of 11 exons and is closely linked to the gene for ALDH3.[ncbi.nlm.nih.gov] Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2[genedx.com] These data suggest that bezafibrate treatment could be effective in patients with expression of FALDH protein and some residual enzyme activity.[ncbi.nlm.nih.gov]

  • Omphalocele

    The 26.61-Mb duplication of 3q26.31-q29 encompasses EPHB3, CLDN1 and CLDN16, and the 972-kb deletion of 9q34.3 encompasses EHMT1.[ncbi.nlm.nih.gov] To look for evidence in support of our hypothesis, we performed a histological analysis of normal human abdominal wall development and compared this to mouse.[ncbi.nlm.nih.gov] "Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of he Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes" .[en.wikipedia.org]

  • Doxorubicin

    Measurement was done twice a week for tumor width, length, and mouse body weight. RESULTS: The PLPS PDOX showed resistance towards DOX.[ncbi.nlm.nih.gov] KEYWORDS: allosteric coupling pathways; nonnatural ligand-binding sites; protein design; serpins; α1-antichymotrypsin[ncbi.nlm.nih.gov] Hypoxia levels in A549R and CLDN1-overexpressing cells (CLDN1/A549) were greater than those in A549, mock/A549, and CLDN3/A549 cells in a spheroid culture model.[ncbi.nlm.nih.gov]

  • Refsum Disease

    Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2[genedx.com] We initially identified the human PAHX and mouse Pahx genes as expressed sequence tags (ESTs) capable of encoding PTS2 proteins.[ncbi.nlm.nih.gov] […] to a mechanism, different to a protein-supported fatty acid cycling.[ncbi.nlm.nih.gov]

  • Ichthyosis

    The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2.[ncbi.nlm.nih.gov] Immunofluorescence revealed SGPL1 expression in mouse podocytes and mesangial cells.[ncbi.nlm.nih.gov] Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in trafficking of the[ncbi.nlm.nih.gov]