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89 Possible Causes for ARKADIA,, HOMOLOG, MOUSE,, OF

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  • Neuronal Ceroid Lipofuscinosis

    Intriguingly, the genome of this eukaryotic soil microbe encodes homologs of 11 of the 13 known genes linked to NCL.[ncbi.nlm.nih.gov] Greece : Acharavi, Aegina, Afantou, Afytos, Agios Gordios, Andros, Arkadia, Athens, Cephalonia, Chania, Chaniotis, Chios, Corfu, Corinth, Crete, Cyclades, Dassia, Delphi,[maria-online.com] Thus, the novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes NCL in mouse and man.[ncbi.nlm.nih.gov] Overview Pathways & interactions Structures Cross-references Family Ceroid-lipofuscinosis neuronal protein 5 (IPR026138) Short name: CLN5 Overlapping homologous superfamilies[ebi.ac.uk]

    Missing: OF
  • RAPADILINO Syndrome

    The function of RECQL4 remains unknown, but based on the domain homology it possesses ATP-dependent DNA helicase activity such as BLM and WRN.[ncbi.nlm.nih.gov] Greece : Acharavi, Aegina, Afantou, Afytos, Agios Gordios, Andros, Arkadia, Athens, Cephalonia, Chania, Chaniotis, Chios, Corfu, Corinth, Crete, Cyclades, Dassia, Delphi,[maria-online.com] Mapped by homologous gene (Total Items:15) HP ID HP Name MP ID MP Name Annotation HP:0005198Stiff interphalangeal jointsMP:0012431increased lymphoma incidencegreater than[pediascape.org] […] and mouse.[doi.org]

    Missing: OF
  • Congenital Hypotrichosis with Juvenile Macular Dystrophy

    Greece : Acharavi, Aegina, Afantou, Afytos, Agios Gordios, Andros, Arkadia, Athens, Cephalonia, Chania, Chaniotis, Chios, Corfu, Corinth, Crete, Cyclades, Dassia, Delphi,[maria-online.com] Mouse Cadherin-3 is produced by our Mammalian expression system and the target gene encoding Glu100-Gly647 is expressed with a Fc tag at the C-terminus.[novoprotein.com] Further examination of the region showed a 34-bp repeat (differing by only 1 bp) flanking the break points, suggesting homologous recombination as the mechanism for generating[jamanetwork.com] CDH3 shares 82% sequence homology with the mouse protein and 67% homology with uvomorulin (CDH1; 192090).[ncbi.nlm.nih.gov]

    Missing: OF
  • Dentatorubral-Pallidoluysian Atrophy

    Rat DRPLA protein, homologous in sequence to human DRPLA protein, was identified in rat brains.[ncbi.nlm.nih.gov] Griechenland : Acharavi, Afandou, Afytos, Agios Gordios, Andros, Arkadia, Athen, Athos, Chania, Chaniotis, Chersonisou, Chios, Dassia, Delphi, Dodekanes, Faliraki, Halkidiki[maria-online.com] Q129 DRPLA mouse may depend on transcriptional abnormality involving MAP1B.[doi.org] One of the clones isolated with a yeast two-hybrid system was identified as a human homolog of the insulin receptor tyrosine kinase substrate protein of 53 kDa (IRSp53).[ncbi.nlm.nih.gov]

    Missing: OF
  • Aneurysm-Osteoarthritis Syndrome

    14657019 Arkadia amplifies TGF-beta superfamily signalling through degradation of Smad7 Koinuma, D , Shinozaki, M , Komuro, A , Goto, K , Saitoh, M , Hanyu, A , Ebina, M ,[reactome.org] The studies of Maegdefessel et al. indicate that miR-29b expression is decreased with aortic aneurysm formation in mouse models of AAA, and the associated fibrotic responses[jci.org] […] processing Feature key Position(s) Description Actions Graphical view Length Initiator methionine i Removed Chain i PRO_0000090856 2 – 425 Mothers against decapentaplegic homolog[uniprot.org] SMAD3 and SMAD4 possess two evolutionarily conserved domains termed Mad-homology 1 (MH1) and 2 (MH2).[breast-cancer-research.biomedcentral.com]

    Missing: OF
  • Iminoglycinuria

    Greece : Acharavi, Aegina, Afantou, Afytos, Agios Gordios, Andros, Arkadia, Athens, Cephalonia, Chania, Chaniotis, Chios, Corfu, Corinth, Crete, Cyclades, Dassia, Delphi,[maria-online.com] Here we demonstrate that the mouse homologue of slc6a20 has all properties of the long-sought IMINO system.[doi.org] The proposed homology model allows to study mutations in IMINO associated with iminoglycinuria.[ncbi.nlm.nih.gov] Based on homology, expression, and function, another member of the SLC36 family, SLC36A2, was selected as a candidate gene for iminoglycinuria.[ashg.org]

    Missing: OF
  • Griscelli Syndrome, Type 3

    C member 21 DNAJC21 473 Annotation score: A0A2R8Y534 A0A2R8Y534_HUMAN DnaJ homolog subfamily C member 21 DNAJC21 415 Annotation score: A0A2R8YET8 A0A2R8YET8_HUMAN DnaJ homolog[uniprot.org] Greece : Acharavi, Aegina, Afantou, Afytos, Agios Gordios, Andros, Arkadia, Athens, Cephalonia, Chania, Chaniotis, Chios, Corfu, Corinth, Crete, Cyclades, Dassia, Delphi,[maria-online.com] Models phenotype-based associations Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram.[mousephenotype.org] Gene Review : Synonyms: DNAJA5, DnaJ homolog subfamily A member 5, DnaJ homolog subfamily C member 21, GS3, JJJ1, ... Welcome![wikigenes.org]

    Missing: OF
  • X-linked Intellectual Disability Type Abidi

    Molecular Function This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers[autism.mindspec.org] Greece : Acharavi, Aegina, Afantou, Afytos, Agios Gordios, Andros, Arkadia, Athens, Cephalonia, Chania, Chaniotis, Chios, Corfu, Corinth, Crete, Cyclades, Dassia, Delphi,[maria-online.com] To assess the functional significance of these variants, we took advantage of the Usp9x knockout mouse we generated.[plu.mx] Human ALCILLRHSKNVRFWFAHNV L FNVSNRFSEYLLECPSAEVR Mouse ALCILLRHSKNVRFWFAHNV L FNVSNRFSEYLLECPSAEVR Sequence annotation in neighborhood: The regions or sites of interest surrounding[web.expasy.org]

    Missing: OF
  • Spondyloepiphyseal Dysplasia Type Byers

    Constructing the Genetic Map 367 Metabolic Disorders 134 Tumors in Genetic Diseases 141 Disorders of Hair 152 References 169 Chapter 3 189 Occurrence in Physiological Fluids 200 Homology[books.google.com] Griechenland : Acharavi, Afandou, Afytos, Agios Gordios, Andros, Arkadia, Athen, Athos, Chania, Chaniotis, Chersonisou, Chios, Dassia, Delphi, Dodekanes, Faliraki, Halkidiki[maria-online.com] Seegmiller RE (2013) Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (Sedc) mouse[springermedizin.de] Because these exons encode a repeat motif [(Gly-X-Y),], sequence homology between exons may have driven the recom- binational process.[documents.mx]

    Missing: OF
  • Legionella Pneumophila

    Secondary ubiquitin-RING docking enhances Arkadia and Ark2C E3 ligase activity.[journals.plos.org] Analysis of the ΔsdhA mutant in the A/J mouse model also showed a significant replication defect.[ncbi.nlm.nih.gov] The imported DNA can either replace a homologous segment of the genome (homologous recombination) or comprise novel genes that are new to the recipient genome (non-homologous[journals.plos.org] […] phospholipase C, acid phosphatase, alkaline phosphatase and lipase), hemagglutination capabilities, and pathogenicity in various host cells (Acanthamoeba castellanii ATCC 30234, mouse[ncbi.nlm.nih.gov]

    Missing: OF