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7,321 Possible Causes for (mouse), 1, expressed, gene, homolog, meiosis

Did you mean: (mouse), 1, expressed, gene, homolog, miosis

  • LIG4 Syndrome

    […] send to {{ username }} {{geneWatchAttr}} Analyze Gene Strain QTL List Functional Annotation unavailable Annotation Distribution unavailable Genomic Variants unavailble for Mouse[] […] and 2.39 at 1 and 24 hours, respectively) and NK cells (HC1, 49.80 and 3.26 at 1 and 24 hours, respectively; HC2, 58.38 and 2.57 at 1 and 24 hours, respectively).[] […] expressed, it is required to prevent mutagenesis and apoptosis, which can result from DNA double strand breakage caused by intracellular events such as DNA replication and meiosis[] Click here to return to gene search form[] WT and R814X LIG4 were expressed to similar extents in cells expressing or not expressing XRCC4 as shown by direct western blotting with anti-myc antibodies (Fig. 4 A; WB:[] LIG4 syndrome is conferred by hypomorphic mutations in DNA ligase IV, an essential component of DNA non-homologous end-joining (NHEJ), and is associated with pancytopaenia[]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Models phenotype-based associations Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram.[] Table 1 Causes of hypophosphatemic rickets (HR).[] […] identification of three independent deletions in introns 9 and 10 suggests that the SLC34A3 gene may be susceptible to unequal crossing over because of sequence misalignment during meiosis[] The V446Stop mutant showed complete loss of expression and function when assayed for apical patch expression in opossum kidney (OK) cells and sodium-dependent 33P uptake into[] DESIGN AND SETTING: Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.[] The intronic deletion is likely caused by misalignment of the 4-basepair homologous repeats and results in the truncation of an already small intron to 63bp, which would impair[]

  • Spinocerebellar Ataxia Type 1

    Therefore, the neurochemicals that correlate with clinical status in patients reflected progressive pathology in the mouse model.[] […] type 1.[] The number of CAG repeats expands in meiosis, particularly in paternal transmissions; the average total increase in intergenerational transmissions in our cohort was estimated[] These ocular changes were considered specific to patients who had the expanded allele of the repeated trinucleotide in the SCA1 gene.[] Astrogliosis or decreased neuronal activity does not correlate with diminished GLAST expression.[] The Drosophila Couch potato protein is expressed in nuclei of peripheral neuronal precursors and shows homology to RNA-binding proteins.[]

  • Polyploidy

    Abstract Nine hundred eighty-seven mouse embryos were cytogenetically analyzed at the two-cell stage to compare aneuploidy rates in embryos derived from both in vivo and in[] PRINCIPAL FINDINGS: When the oncogenic serine-threonine kinase Pim-1 is overexpressed in immortalized, non-tumorigenic human prostate and mammary epithelial cells, these cells[] […] chromatids during meiosis II associated with a failure of nuclear cleavage.[] Combining gene order and gene duplication data assigns essentially the whole genome into sister regions, the largest gap being only 36 genes long.[] Compared to their parental cells, the resulting Tbx2-expressing cells are larger, with binucleate and lobular nuclei containing double the number of chromosomes.[] Abstract Polyploidy is a state in which a cell contains multiple copies of its entire genome, while a normal diploid cell contains only two sets of homologous chromosomes.[]

  • Spinal Muscular Atrophy

    mouse spinal cords (Figure 7 D).[] Author information 1 Department of Pediatric Neurology, Federal University of Paraná, Curitiba, Paraná, Brazil. Abstract Neurofibromatosis type 1, or[] The de novo mutations have been shown to occur primarily during paternal meiosis.[] Increasing SMN2 gene expression could be of invaluable therapeutic importance.[] […] had one copy of the SMN2 gene.[] SMA is caused by the loss of SMN1 and the retention of at least 1 copy of a highly homologous SMN2.[]

  • Werner Syndrome

    S. ( 2004 ) Application of comparative functional genomics to identify best-fit mouse models to study human cancer. Nat.[] Hypoxia-inducible factor-1 (HIF-1) is a decisive element for the transcriptional regulation of genes essential for adaptation to low oxygen conditions.[] Meiotic recombination was not increased in sgs1 Δ mutants, although meiosis I chromosome missegregation has been shown to be elevated. sgs1 Δ suppresses the slow growth of[] This result demonstrates that the WS transcription defect is specific to certain genes.[] Such homology does not necessarily mean that WRN encodes an active helicase.[] RecQ function in these different processing steps has important implications for its role in repair of double-strand breaks (DSBs) that occur during DNA replication and meiosis[]

  • Nephronophthisis 4

    ENCODE transcriptome data Description: RNA profiling data sets generated by the Mouse ENCODE project.[] The gene for nephronophthisis 1 is on chromosome 2 in region 2q13 and is designated NPHP1. It codes for a protein dubbed nephrocystin.[] Segregation studies using microsatellites in the candidate region including additional meiosis supported the sibTDT analysis but could not further reduce the area.[] Order single gene NPHP4 Order this gene as a single gene test.[] […] normal tissue i Cytoplasmic expression in ciliated cells.[] More about the Nphp4 gene Nphp4 gene Also Known As: 4930564O18Rik, nmf192 Homologs of the Nphp4 gene[]

  • Barth Syndrome

    The proposed study is significant because it will establish the molecular pathogenesis of BTHS and it will test a potential therapy of the disease in a mouse model.[] Adwani 1 B.F. Whitehead 1 P.G. Rees 1 A. Morris 2 D.M. Turnball 2 M.J. Elliott 1 M.R. de Leval 1 1.[] Vaz, Eyal Gottlieb, Douglas Strathdee and Helen White-Cooper , Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis , PLOS ONE , 10 , 6 , (e0131066) ,[] expression coincides with cardiac organogenesis and development.[] In general, sensitivity for single, double, or triple exon CNVs is 70% and for CNVs of four exon size or larger is 95%, but may vary from gene-to-gene based on exon size,[] […] skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin (TAZ) gene, whose products are homologous[]

  • Terminal 4q Deletion Syndrome

    Mouse knockout experiments suggest that Casp3 , which is contained in the critical region, is required for proper functioning of the cochlea [ 41 - 43 ].[] Marble 1 , T. Meaux 2 1) Dept Ped/Clinical Gen/LSUHSC, Children's Hosp New Orleans, New Orleans, LA; 2) LSUHSC.[] These gene deletions occur during meiosis (Metaphase-1) of gametogenesis or mitosis of zygote, which is probably due to unknown causes.[ 2 ] But some researchers have described[] As expected, no genes showed an increase in expression levels.[] The current report is a further document highlighting that deletion of segment q31 could be contributing to the expression of most of the phenotype of 4q deletion syndrome[] Three genes in this region, namely TLL1 (Tolloid‐like‐1), HPGD (15‐hydroxyprostaglandin dehydrogenase), and HAND2 (Heart and neural crest derivatives‐expressed protein 2),[]

  • Candida Albicans

    The transcriptional regulator Wor1 has been shown to induce the GUT transition, an environmentally triggered process that increases the fitness of Candida albicans in the mouse[] Abstract A previously healthy 1-year-old boy presented with a right lower eyelid abscess.[] This flexibility makes it highly adaptable as environments change [3] The microbe is asexual, and does not perform meiosis.[] These include guides that are allele- and gene-specific and those that could target multiple genes or gene families.[] Strains are engineered to over-express a specific gene and the resulting gain-of-function phenotype assessed.[] Diploid assembly of a pair of homologous supercontigs.[]