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22 Possible Causes for mouse, ninein, protein

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  • Seckel Syndrome

    . ; Sanger Mouse Genetics Project Disruption of the centromere protein J gene, CENPJ (CPAP, MCPH6, SCKL4), which is a highly conserved and ubiquitiously expressed centrosomal[academiccommons.columbia.edu] You are here The Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or[diginole.lib.fsu.edu] Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage.[ncbi.nlm.nih.gov]

  • Emery-Dreifuss Muscular Dystrophy

    METHODS: The skeletal muscle and cardiac phenotypes were analyzed in a newly generated Lmo7-null mouse using histological analysis, echocardiography, and various neuromuscular[ncbi.nlm.nih.gov] The PCM contains proteins responsible for microtubule nucleation and anchoring including γ-tubulin, pericentrin and ninein, in general, each centriole of the centrosome is[wikivisually.com] Abstract Emerin is a ubiquitously expressed inner nuclear membrane protein of unknown function.[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type Bieganski

    Central BLAST Nucleotide Genome SNP Gene Protein PubChem Featured Genetic Testing Registry GenBank Reference Sequences Gene Expression Omnibus Genome Data Viewer Human Genome Mouse[ncbi.nlm.nih.gov] We present several lines of evidence thatmutant Ninein is most likely causative for the SEMDJL2-like phenotype.[documents.tips] […] triphosphate–binding region Friday, 25 January 2019 0 comments 3 Taurine potentiates the anticonvulsive effect of the GABAA agonist muscimol and pentobarbital in the immature mouse[icnapedia.org]

  • Familial Hemiplegic Migraine Type 2

    We generated the first FHM2 knock-in mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene.[ncbi.nlm.nih.gov] […] anti-ATX1 Antioxidant Protein 1 Homolog (Yeast) Antibodies anti-AU RNA Binding Protein/enoyl-CoA Hydratase Antibodies anti-Aurora Kinase A Antibodies anti-Aurora Kinase A and Ninein[antibodies-online.com] The Na /K ATPase is a membrane protein that is composed of two subunits - alpha and beta.[genecards.org]

  • Microcephalic Primordial Dwarfism Type Dauber

    […] selected 20086-06-0 manufacture this tissue because during early embryogenesis, centrosomes organize microtubules throughout the cell cycle, and previous studies suggested Mouse[biologycu.org] […] protein Ninein.[ncbi.nlm.nih.gov] (PMID: 15190203) Stillwell EE … Joshi HC (Cell cycle (Georgetown, Tex.) 2004) 3 4 22 60 Molecular characterization of human ninein protein: two distinct subdomains required[genecards.org]

  • Usher Syndrome, Type 3

    A new study published in Nature Chemical Biology reports the first small molecule targeted therapy for progressive hearing loss in a mouse model of USH3, an USH classified[sciencedaily.com] Marker T Yan X Cremers CW Cremers FR Wolfram U Roepman R Kremer H: Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like[karger.com] Individuals with Usher syndrome type 3 are not able to produce the protein clarin 1, a protein required for nerve cell communication in the inner ear and retina.[nxgenmdx.com]

  • Microcephalic Primordial Dwarfism Type Alazami

    We show that 7SK levels are tightly linked to LARP7 expression across cell lines, and that this chaperone is ubiquitously expressed in the mouse embryo.[unboundmedicine.com] ., and Hwa, V. (2012) Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein.[zfin.org] Reviews for LARP7 Protein (NBP1-85084PEP) (0) There are no reviews for LARP7 Protein (NBP1-85084PEP).[novusbio.com]

  • Ring Chromosome 20 Syndrome

    E' possibile visualizzare l'elenco di tutte le categorie/percentili muovendo il mouse sopra al numero di percentile visualizzato. Impersona un altro utente[air.unimi.it] […] receptor coactivator 6 20q11.21-q11.23 Nmyc Downstream-regulated Gene 3 20q13.2-q13.3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 20p11.22-p11.1 ninein-like[okdb.appliedbioinfo.net] A decreased activity of enzyme carboxypeptidase-L/protective protein (CP/PP) in cultured fibroblasts was demonstrated in our patient and a patient with a karyotype 46,XY,-[ncbi.nlm.nih.gov]

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

    This gene shares homology with other species, including: Mouse, Rat, Zebrafish, Frog, Chicken.[biocompare.com] The PCM contains proteins responsible for microtubule nucleation and anchoring including γ-tubulin, pericentrin and ninein, in general, each centriole of the centrosome is[wikivisually.com] Lamins are intermediate filament proteins which form the nuclear lamina underlying the inner nuclear membrane.[ncbi.nlm.nih.gov]

  • Jawad Syndrome

    Multiscale regression modeling in mouse supraspinatus tendons reveals that dynamic processes act as mediators in structure-function relationships. : Connizzo KB, Adams MS,[med.upenn.edu] Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V タイトル Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein[genome.jp] (PMID: 19460342) Tsang WY … Dynlacht BD (Developmental cell 2009) 3 4 22 60 Proteomic characterization of the human centrosome by protein correlation profiling.[genecards.org]