• In the motor, somatosensory, and visual cortex, many pyramidal neurons in layer V exhibited undulating apical dendrites that did not reach layer I. The hippocampus of L1 mutant mice was smaller than normal, with fewer pyramidal and granule cells. (jneurosci.org)
  • Furthermore, retinal and dorsal root ganglion growth cones from p75 mutant mice are insensitive to neurotrophins but display enhanced filopodial lengths comparable with neurotrophin-treated wild-type growth cones. (jneurosci.org)
  • huRBC-reconstituted immunodeficient mice received infectious challenge with attenuated P. falciparum C9 parasite mutants (C9-M), complemented (C9-C), and wild type (NF54) progenitors to study the role of immune effectors in the clearance of the parasite from mouse circulation. (frontiersin.org)
  • Collectively, our data suggest that huRBCs reconstituted NSG mice infected with attenuated P . falciparum is a valuable tool to explore the role of C9 mutation in the growth and survival of parasite mutants and their response to the host's immune responses. (frontiersin.org)
  • Pax2 mutant mice display increase. (unige.ch)
  • Its absence, as assessed in Pax2(1Neu) mutant mice, results in a two- to threefold increase in the average pancreas volume occupied by the islets in both heterozygous and homozygous mutant mice with a gene-dependent dosage effect. (unige.ch)
  • When xenografted into immunocompromised mice, RB1 mutant cells exhibit an elevated propensity to seed new tumors in recipient lungs. (bepress.com)
  • A minimum of four (4) mice mutant for the selected mutation. (taconic.com)
  • In rare cases where the cryopreserved material also contains a recombinase gene, this may be reduced to 1-2 mutant mice. (taconic.com)
  • To assess the role of an individual HDAC isoenzyme in physiology and tumor development, HDAC2-mutant mice were generated from a gene trap embryonic stem cell clone. (aacrjournals.org)
  • They are the first class 1 HDAC mutant mice that are viable although they are ∼25% smaller than their littermates. (aacrjournals.org)
  • Crossing of HDAC2-mutant with tumor-prone APC min mice revealed tumor rates that are lower in HDAC2-deficient mice by 10% to 100% depending on segment of the gut and sex of the mice. (aacrjournals.org)
  • Previously, we showed that cholinergic interneurons of the dorsal striatum lose their cilia in R1441C LRRK2 mutant mice (Dhekne et al. (elifesciences.org)
  • our data support a model in which LRRK2 and PPM1H mutant mice show altered responses to critical Hedgehog signals in the nigrostriatal pathway. (elifesciences.org)
  • This method can be applied to testing other pathogens and their mutants, as well as virulence infect in mice. (jove.com)
  • This would be expected based on the fact that the congenic CBA.B6 mice genotypes included the mutant Ahl locus. (cdc.gov)
  • [ 25 ] Loss of activity by as much as 50% as the result of one FECH mutant gene is generally insufficient to cause overt disease when its complementary allele has normal function. (medscape.com)
  • The Escherichia coli dnaN159 allele encodes a mutant form of the β-sliding clamp (β159) that is impaired for interaction with the replicative DNA polymerase (Pol), Pol III. (asm.org)
  • The dnaN159 allele encodes a mutant form of the β-sliding clamp (β159) that bears two amino acid substitutions: G66E (glycine at position 66 replaced with glutamic acid) and G174A ( 14 , 35 , 38 ). (asm.org)
  • Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. (lu.se)
  • The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (jneurosci.org)
  • consequently, there is an introduction of variability in gene expression and mutant phenotype, a phenomenon repeated observed for Dri (Shandala, 1999). (sdbonline.org)
  • A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis. (cdc.gov)
  • In the genealogy, co-segregation of the mutant genotype with the phenotype was established. (bvsalud.org)
  • Intramolecular heterogeneity has been recognized, and genotype-phenotype correlations have been demonstrated. (medscape.com)
  • The frequency of these mutations varies according to the HBV genotype. (wikipedia.org)
  • In this paper we demonstrate that coupling a multiplexing procedure with our microarray method is possible for the simultaneous detection and genotyping of four point mutations, in three different genes, involved in Charcot-Marie-Tooth disease. (hindawi.com)
  • Heterozygous" mutant DNA samples gave signal intensity ratios close to 1 at the positions of the mutations as expected. (hindawi.com)
  • Infrequently, two deleterious FECH mutations are paired in a recessive genotype of EPP that may impart a higher risk for hepatic dysfunction. (medscape.com)
  • Individual events carrying mutations in the LeMADS-RIN gene occurred in 10.6% of the transformed tomato genotypes. (isaaa.org)
  • Notre étude a démontré que les mutations du gène HFE sont fréquentes en Égypte chez les porteurs d'une -thalassémie par rapport aux sujets témoins. (who.int)
  • In 2006, Hanna et al found that Noonan syndrome mutations enhance SHP-2 catalytic activity, whereas the activity of representative LS mutants is undetectable when assayed using a standard PTP substrate. (medscape.com)
  • [ 11 ] They revealed that whereas Noonan syndrome is caused by gain-of-function PTPN11 mutations, LEOPARD syndrome mutants are catalytically defective and act as dominant negative mutations that interfere with growth factor/Erk-mitogen-activated protein kinase-mediated signaling. (medscape.com)
  • The 3B-3E recombinants were genotyped by high-throughput wheat 90K single nucleotide polymorphism (SNP) arrays and their recombination breakpoints physically mapped based on the FGISH patterns and SNP results. (usda.gov)
  • Traditionally, new phenotypes are ascribed to novel genotypes (mutants or recombinants). (ualberta.ca)
  • But developmental plasticity -- the same genotype yields different forms in different environments -- may be a much more important source of new phenotypes than generally recognized. (ualberta.ca)
  • These phenotypes appear to result, at least in part, from impaired interactions of the mutant β159 clamp protein with the replicative DNA polymerase, Pol III ( 38 ). (asm.org)
  • This article is a brief introduction to the study of CMT and correlates the most common different genotypes and phenotypes. (medscape.com)
  • We show here that the multiplex genotyping of multiple mutation sites is possible, based on multiplex PCR DNA amplification and a stem-loop probe method. (hindawi.com)
  • testThis study was conducted with the aim of studying the agronomic traits, preliminary yield evaluation of 18 mutant genotypes (M5) resulting from chemical mutation of Hashemi local rice variety, selected of augmented design in 2019, with control cultivars Hashemi, Anam in a randomized complete block design with three replications, at the Rice Research Institute of Iran, Rasht, in 2020. (rriiran.ir)
  • elongatum chromosome 3E and homozygous for the ph1b mutant, to induce 3B-3E homoeologous recombination. (usda.gov)
  • where WT and MT are homozygous wild-type and mutant, respectively and Het is heterozygous. (molvis.org)
  • The Molecular Inversion Probe assay (Parallele Biosciences, South San Francisco, Calif, USA) [ 6 ] uses probes that can be circularized and contain two sequences complementary to regions adjacent to SNPs in the DNA target in the first step of the genotyping reaction. (hindawi.com)
  • The GoldenGate assay (Illumina, San Diego, Calif, USA) [ 7 , 8 ] is based on a similar principle but includes two oligonucleotides flanking the SNPs for the genotyping reactions. (hindawi.com)
  • The detection of SNPs ( SNP Genotyping ) can be achieved with a number of different methods. (bmglabtech.com)
  • The Amplifluor ® SNPs HT Genotyping System from Millipore was used to screen a number of samples with the help of a BMG LABTECH microplate reader. (bmglabtech.com)
  • 0.6, from probe-level scaled differences of mutant with wildtype). (nih.gov)
  • Compared with wildtype plants, the edited mutants exhibited more incompletely-ripening fruits and lower ethylene contents. (isaaa.org)
  • The goal of the current study was to assess the association of COVID-19 clinical courses controlled by patients' adaptive immune responses without progression to severe disease with patients' Human Leukocyte Antigen (HLA) genetics, AB0 blood group antigens, and the presence or absence of near-loss-of-function delta 32 deletion mutant of the C-C chemokine receptor type 5 (CCR5). (biomedcentral.com)
  • The majority of patients in Japan who are infected with HCV genotype 1b (G1b) are older than the patients in the United States and/or Europe and the frequency of patients who discontinued due to adverse events was reported to be as high as 11.1-16.7% [ 7 - 9 ]. (hindawi.com)
  • Among these patients, there were 54 wild-type homozygotes (AA), 53 heterozygotes (AG) and 21 mutant homozygotes (GG). (spandidos-publications.com)
  • We evaluated the genetic variation in rs8099917, substitutions in core amino acid (aa) 70, and the number of aa substitutions in the interferon sensitivity-determining region (ISDR) on the prediction of sustained virological response (SVR) in treatment-naïve hepatitis C virus (HCV) genotype 1b (G1b) patients. (hindawi.com)
  • Among the 150 patients in whom the final virological response was determined, only genotype TT in rs8099917 was identified as a pretreatment predictor ( P = 7.38 × 10 −4 ). (hindawi.com)
  • This treatment provides rates of sustained virological response (SVR, undetectable serum levels of HCV RNA at least 6 months after completion of therapy) of 40-50% among patients with HCV genotype 1 (G1) who have not received previous treatment (treatment-naïve patients) [ 1 - 3 ]. (hindawi.com)
  • Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. (scirp.org)
  • These insights allow further understandings of the structural basis of thiopurine intolerance in patients carrying these NUDT15 mutants and will support the prediction of new NUDT15 mutants' effects in clinical treatments. (lu.se)
  • Hedgehog signaling requires cilia, and loss of cilia in LRRK2 mutant rodents correlates with dysregulation of Hedgehog signaling as monitored by in situ hybridization of Gli1 and Gdnf transcripts. (elifesciences.org)
  • Further, the presence of mutant parasites in deep-seated tissues suggests the escape of parasites from the host's immune responses and thus extended the survival of the parasite. (frontiersin.org)
  • Association of Plasmodium falciparum kelch13 R561H genotypes with delayed parasite clearance in Rwanda: an open-label, single-arm, multicentre, therapeutic efficacy study. (cdc.gov)
  • In the congenic CBA/CaJ strain the wild-type locus has been replaced by the mutant Ahl locus (strain CBA.B6). (cdc.gov)
  • This system now combines the principle of highly specific genotyping based on stem-loop structure probes with the advantages of multiplex analysis. (hindawi.com)
  • We previously developed a highly specific genotyping method based on hairpin probes. (hindawi.com)
  • Locked Nucleic Acid Dual-Labeled Probes discriminate better than DNA Dual-Labeled Probes in SNP genotyping analysis9. (sigmaaldrich.com)
  • This multiplexing can be achieved in several ways, including reducing the complexity of the genome before genotyping. (hindawi.com)
  • Basal core promoter mutants cause a reduction in HBeAg production. (wikipedia.org)
  • Cells with even one mutant copy of RB1 have increased basal levels of DNA damage and increased mitotic errors. (bepress.com)
  • Analysis also revealed that the desired mutant alleles are inheritable and could be retrieved in the succeeding generations. (isaaa.org)
  • Complement factor B (FB) mutant variants are associated with excessive complement activation in kidney diseases such as atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy and membranoproliferative glomerulonephritis (MPGN). (lu.se)
  • Mutant embryonic fibroblasts fail to respond to insulin-like growth factor I (IGF) by the IGF-I-induced increase in cell number observed in wild-type cells. (aacrjournals.org)
  • A total of 16 mutant populations were grown under greenhouse conditions (standard for rice growth) until 45 days after sowing. (nih.gov)
  • These mutants are important because infections caused by these viruses are difficult to treat, and can cause infections of prolonged duration and with a higher risk of liver cirrhosis. (wikipedia.org)
  • Furthermore, p75 mutant neurons display reduced levels of activated RhoA compared with wild-type counterparts, consistent with the enhanced filopodial lengths observed on mutant growth cones. (jneurosci.org)
  • Red) wild-type DNA with native-state DNA mutant probe (25mer). (sigmaaldrich.com)
  • Purple) wild-type DNA with Locked Nucleic Acid mutant Probe (16mer with 3 Locked Nucleic Acid bases). (sigmaaldrich.com)
  • Germline and zygotic dri mutant embryos still have a recognizable dorsal bridge, dorsal and ventral arms and mouth hooks, but the H-piece and lateralgraten are missing or severely malformed. (sdbonline.org)
  • In this study, by characterization of the dominant maize mutant Barren inflorescence3 ( Bif3 ) we identified a tandem-duplicated copy of ZmWUS1 whose expression is dramatically enhanced by the insertion of a short stretch of chimeric proximal promoter sequence. (nature.com)
  • Here, we constructed a special wheat genotype, which was double monosomic for wheat chromosome 3B and Th. (usda.gov)
  • leaky mutant disomic for chromosome III, mates and sporulates well. (ncyc.co.uk)
  • This new version of the database (R20, July 2019) includes a major update of data on germline variations and on the functional assessment of mutant proteins. (who.int)
  • First, we were interested in elucidating the potential impact of CCR5 delta32 (CD195), a near-loss-of-function mutant of the C-C chemokine receptor type 5 on the COVID-19 clinical course. (biomedcentral.com)
  • The need for efficient large-scale genotyping methods has rapidly increased over the last ten years. (hindawi.com)
  • Finally, the pooling of DNA samples or multiplex PCR strategies for SNP genotyping have also been described in several microarray methods, such as the original arrayed primer extension (APEX) [ 9 - 12 ] or single base extension (SBE-tags) [ 13 , 14 ] assays. (hindawi.com)
  • Minor genotypes confirm the heterogeneous number of multidrug resistance genes ( pfmdr1 ) in P. nature of infection and may affect treatment success. (cdc.gov)
  • The most consistent effect on expression of the segmentation genes in the dri maternal and zygotic mutant embryos is a disruption to the expression of even-skipped ( eve ) stripe 4, observed in nearly all embryos lacking both maternal and zygotic dri product. (sdbonline.org)
  • The late entry into the S/M phase coincides with the timing for the peak expression of PF13_0027, suggesting that the deficiency in the mutant cycle can be correlated with the gene expression pattern ( 26 ). (frontiersin.org)
  • Analysis of animals lacking SRC64B and SRC42A reveals defects in commissure formation similar to those observed in Wnt5 and derailed mutants. (biologists.com)
  • Pink) mutant DNA analysis with Locked Nucleic Acid mutant probe (16mer with 3 Locked Nucleic Acid bases). (sigmaaldrich.com)
  • Green) mutant DNA analysis with native-state DNA mutant probe (25mer). (sigmaaldrich.com)
  • 6 eligible studies, totaling 1301 cases and 1217 controls on G2258A genotypes, and 8 studies, totaling 2175 cases and 2069 controls on T597C genotypes, were included in the analysis. (cdc.gov)
  • Here we show that the maize dominant Barren inflorescence3 ( Bif3 ) mutant harbors a tandem duplicated copy of the ZmWUS1 gene, ZmWUS1-B , whose novel promoter enhances transcription in a ring-like pattern. (nature.com)
  • Furthermore, the FD-inhibitor blocked hemolysis induced by the D371G and D279G gain-of-function mutants. (lu.se)
  • Presence of precore and core promoter mutants limits the probability of response to peginterferon in hepatitis B e antigen-positive chronic hepatitis B". Hepatology. (wikipedia.org)
  • Moreover, astrocytes throughout the striatum show a ciliation defect in all LRRK2 and PPM1H mutant models examined. (elifesciences.org)
  • We generated isogenic RB1 mutant genotypes with CRISPR/Cas9 in a number of cell lines. (bepress.com)
  • Terminal development is disrupted in the dri maternal and zygotic mutant embryos. (sdbonline.org)