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3,520 Possible Causes for D1, Drosophila, Notch, ligand, protein

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  • CADASIL Syndrome

    Experiments in Drosophila suggest that these mutations can lead to ligand- dependent hyperactivation.[grantome.com] In CADASIL, there is abnormal accumulation of the Notch 3 extracellular domain on blood vessels, but the molecular pathways linking notch 3 mutations to degeneration of the[ncbi.nlm.nih.gov] ( n 2), Notch3 protein was not detected (Figure 4 , a and b).[doi.org] Koutroulou I1, Karapanayiotides T1, Grigoriadis N1, Karacostas D1.[unicare.com] […] protein, resulting in ligand-binding and toxic effects.(10) The NOTCH3 gene is found on chromosome 19p13.2-p13.1 and encodes the third discovered human homologue of the Drosophila[bcidaho.com]

  • Dementia

    Best practices in nursing care to older adults with dementia. 2012;D1. Inouye SK. Delirium in older persons. N Engl J Med. 2006;354:1157–65.[choosingwisely.org] Jeon, Young-Won Chin, Byung-Soo Koo and Kyoung Sang Cho , In Vivo Screening of Traditional Medicinal Plants for Neuroprotective Activity against Aβ42 Cytotoxicity by Using Drosophila[doi.org] The authors show here that blocking PD-L1, a PD-1 ligand, is similarly effective, and that both treatments reversed cognitive deficiencies, and modified disease pathology[nature.com] […] of patients with AD treated with tolerable doses; this is notable in view of concerns that gamma-secretase inhibition may cause serious toxicity mediated by inhibition of Notch[doi.org] The pathogenesis of AD is complex, involving specific disease-linked proteins (amyloid-beta [Aß] and tau), inflammation, and neurotransmitter dysregulation.[doi.org]

  • Malignant Neoplasm

    Tenth, polymorphisms of TNF, IL-1, IL-6, and cyclin D1 genes encountered in various cancers are all regulated by NF-κB.[dx.doi.org] Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell . 1996 Jun 14. 85(6):841-51. [Medline] .[emedicine.medscape.com] Enhanced antigen-specific anti-tumor immunity with altered peptide ligands that stabilize the MITC-peptide-TCR complex . Immunity 13 , 529–538 (2000). 36.[doi.org] , A parallel-arm phase I trial of the humanised anti-IGF-1R antibody dalotuzumab in combination with the AKT inhibitor MK-2206, the mTOR inhibitor ridaforolimus, or the NOTCH[doi.org] […] of the Hmga1 protein and the Brca1 gene.[doi.org]

  • Alagille Syndrome

    The genome of Drosophila melanogaster (Academic Press, New York, 1992). 48 Heitzler, P. & Simpson, P. The choice of cell fate in the epidermis of Drosophila .[dx.doi.org] Heterozygous mutations in the JAG1 gene, encoding Notch ligand Jagged1, cause Alagille syndrome (ALGS).[ncbi.nlm.nih.gov] Abstract Alagille syndrome is an autosomal dominant disorder with variable multisystem organ involvement that is caused by mutations in one of two genes in the Notch signalling[ncbi.nlm.nih.gov] TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms.[dx.doi.org] However, we detected putative damaging mutations in genes such as PAX5 (R38H) and NOTCH-1 (K1821N), which might be strongly related to the observed disease.[bloodjournal.org]

    Missing: D1
  • Epithelioid Cell Sarcoma

    […] strong nuclear cyclin D1 expression.[doi.org] The proteins aligned are INI1 and its homologs from mouse (mSNF5), the fish Tetradon flaviatus (tfSNF5), Drosophila (SNR1), Caenorhabditis elegans (ceSNF5), the fission yeast[doi.org] Therefore, we tested the apoptotic and anti-proliferative in vitro effects of TNF-related apoptosis-inducing ligand (TRAIL) and taurolidine (TRD) on rhabdomyosarcoma (A-204[ncbi.nlm.nih.gov] ARM I: Patients receive gamma-secretase/notch signalling pathway inhibitor RO4929097 PO QD on days 1-21.[clinicaltrials.gov] Therefore, we tested the apoptotic and anti‑proliferative in vitro effects of TNF-related apoptosis-inducing ligand (TRAIL) and taurolidine (TRD) on rhabdomyosarcoma (A-204[spandidos-publications.com]

  • Inclusion Body Myopathy

    Our Drosophila model reveals the unambiguous consequences of the IBM-3 lesion on fast muscle myosin and fibers.[ncbi.nlm.nih.gov] They may also influence the binding and affinity of notch 4 receptor and the presentation of the gene product at the cell surface, respectively[ 69 ].[ojrd.biomedcentral.com] Frontotemporal dementia with inclusion body myopathy and Paget's disease of bone (IBMPFD) is a rare, autosomal dominant disorder caused by mutations in the gene valosin-containing protein[ncbi.nlm.nih.gov] All mutations identified thus far cluster within the NH(2) domain or the D1 ring, which are both required for communicating conformational changes to adaptor protein complexes[ncbi.nlm.nih.gov] In HIBM, improper sialylation of alpha-DG, due to decreased sialic acid synthesis, is considered to impair the interactions of alpha-DG with its protein ligands, resulting[clinicaltrials.gov]

  • Cornelia De Lange Syndrome

    […] nipblb-loss-of-function embryos presented with increased apoptosis in the developing neural tissues, downregulation of canonical Wnt pathway genes, and subsequent decreased Cyclin D1[ncbi.nlm.nih.gov] In many cases, there is more information about the gene's orthologs in model organisms, including Drosophila melanogaster.[ncbi.nlm.nih.gov] Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 . Nat. Genet. 16 , 243–251 (1997). 11. Bulman, M.P. et al.[dx.doi.org] Cornelia de Lange syndrome is characterized by altered Notch signaling, and recent studies have provided a link between Notch signaling and heart valve development and calcific[ncbi.nlm.nih.gov] We named its protein product delangin.[ncbi.nlm.nih.gov]

  • Circadian Rhythm

    Cyclin D1 and breast cancer . Breast 15 , 718–727 (2006). 76. Kang, T. H. , Reardon, J. T. , Kemp, M. & Sancar, A.[nature.com] Clock genes period and timeless were first discovered in large-scale Drosophila genetic screens developed in the 1970s.[ncbi.nlm.nih.gov] […] al. 2014 ). rhomboid ( rho ), an enzyme necessary for the production of EGFR ligands, is expressed prominently in the PI, and manipulating its activity using Gal4 drivers[doi.org] For example, Dtx4 , a Notch pathway E3 ubiquitin ligase, oscillated in phase with Arntl in all organs ( Fig. 3 A ).[doi.org] Here we show that the product of the slimb ( slmb ) gene 9 —a member of the F-box/WD40 protein family of the ubiquitin ligase SCF complex that targets phosphorylated proteins[doi.org]

  • Spinocerebellar Ataxia Type 1

    We applied this approach, which integrates parallel cell-based and Drosophila genetic screens, to spinocerebellar ataxia type 1 (SCA1), a disease caused by expansion of a[ncbi.nlm.nih.gov] Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats.[doi.org] Here we show that the expanded polyglutamine tract differentially affects the function of the host protein in the context of different endogenous protein complexes.[ncbi.nlm.nih.gov] Elledge for the Y187 and Y190 yeast strains, pAS2-CYH2 and pACT2 vectors, and constructs expressing Lamin, SNF1, Tat, Cdc25, p53, Rb, Rev, cyclin D1, Cdk2 and Cdk6; E.[doi.org] […] binding at phosphoserine residues, 16 modulating ligand stability and acting as a molecular chaperone.[doi.org]

  • Tauopathy

    We created a genetic model of tau-related neurodegenerative disease by expressing wild-type and mutant forms of human tau in the fruit fly Drosophila melanogaster .[science.sciencemag.org] Similar to γ-secretase inhibitors, which cause very profound defects in Notch signaling during early development of zebrafish ( 37 ), such inhibitors may only be used during[jci.org] INTRODUCTION: Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutations in the WD repeat domain 45 (WDR45) gene on chromosome Xp11 resulting[ncbi.nlm.nih.gov] Katrin Beyer Hospital Universitari Germans Trias i Pujol - FIIGTiP Finançament: 198.184,68 Validació dels heteròmers entre receptors de dopamina D1 i d’histamina H3 neuronals[ccma.cat] Wen Hu , Yunn Chyn Tung , Fei Liu , Cheng-Xin Gong & Khalid Iqbal Alzheimer's Research & Therapy (2018) Large inter- and intra-case variability of first generation tau PET ligand[doi.org]