Create issue ticket

22 Possible Causes for mouse, ninein, protein

Show results in: Italiano

  • 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[] 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[] Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage.[]

  • 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[] The PCM contains proteins responsible for microtubule nucleation and anchoring including γ-tubulin, pericentrin and ninein, in general, each centriole of the centrosome is[] Abstract Emerin is a ubiquitously expressed inner nuclear membrane protein of unknown function.[]

  • 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[] We present several lines of evidence thatmutant Ninein is most likely causative for the SEMDJL2-like phenotype.[] […] 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[]

  • Familial Hemiplegic Migraine Type 2

    We generated the first FHM2 knock-in mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene.[] […] 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[] The Na /K ATPase is a membrane protein that is composed of two subunits - alpha and beta.[]

  • 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[] […] protein Ninein.[] (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[]

  • 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[] 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[] 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.[]

  • 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.[] ., and Hwa, V. (2012) Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein.[] Reviews for LARP7 Protein (NBP1-85084PEP) (0) There are no reviews for LARP7 Protein (NBP1-85084PEP).[]

  • 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[] […] 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[] 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,-[]

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

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

  • Jawad Syndrome

    Multiscale regression modeling in mouse supraspinatus tendons reveals that dynamic processes act as mediators in structure-function relationships. : Connizzo KB, Adams MS,[] 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[] (PMID: 19460342) Tsang WY … Dynlacht BD (Developmental cell 2009) 3 4 22 60 Proteomic characterization of the human centrosome by protein correlation profiling.[]