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Mostrando 921 - 940 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.97s Limitar resultados
  1. 921
    “…Potential driver mutations or mutations responsible for mitochondrion-rich phenotype are not completely defined. …”
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    SAT-567 Mutational Profile of Hurthle Cell Carcinomas: Recurrent Mutations in Wnt/β-catenin Pathway Genes
  2. 922
    “…BACKGROUND: Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. …”
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    KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series
  3. 923
    por Huang, Liqin, Meng, Yong, Guo, Xiangming
    Publicado 2019
    “…PURPOSE: The aims of this study were to examine novel mutations in PITX2 and FOXC1 in Chinese patients with anterior segment dysgenesis (ASD) and to compare the clinical presentations of these mutations with previously reported associated phenotypes. …”
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    Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome
  4. 924
    por Chu, Duan, Wei, Lai
    Publicado 2019
    “…An isoaccepting codon is a synonymous codon that shares the same tRNA. If a mutated codon could base pair with the same anticodon as the original, the mutation is termed an isoaccepting mutation. …”
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    Parsing the synonymous mutations in the maize genome: isoaccepting mutations are more advantageous in regions with codon co-occurrence bias
  5. 925
    “…Genetic analysis of adapted clones from two independently evolving populations revealed distinct enrichment for insertion and deletion mutational events. Here, we follow these observations to show that mutations in the gene encoding for DNA topoisomerase I (topA) give rise to mutator phenotypes with characteristic mutational spectra. …”
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    Point mutations in topoisomerase I alter the mutation spectrum in E. coli and impact the emergence of drug resistance genotypes
  6. 926
    “…PURPOSE: We aim to reveal the disease-causing mutations in 15 Chinese families with optic atrophy (OA). …”
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    Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy
  7. 927
    por Yu, Lei, Wu, Meng, Hou, Ping, Zhang, Hong
    Publicado 2020
    “…CONCLUSION: We screened ten additional Chinese FRG pedigrees for mutations in the SLC5A2 gene and found nine mutations, including two novel mutations. …”
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    SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families
  8. 928
    “…Deafness due to mutations in the DFNA5 gene is caused by the aberrant splicing of exon 8, which results in a constitutively active truncated protein. …”
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    DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
  9. 929
    “…CONCLUSION: Our findings increase the clinical data of PPD including the CCN6 mutation spectrum, the clinical symptoms and signs. …”
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    CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations
  10. 930
    “…However, investigations into the mutated SASH1 gene have been limited to in vitro studies. …”
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    Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock-in mouse model
  11. 931
    “…BACKGROUND: ARAP3 is a small GTPase-activating protein regulator, which has important functions in lymphatic vessel organogenesis and modulation of cell adhesion and migration. Mutations in the ARAP3 gene are associated with impaired lymphatic vessel formation. …”
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    Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes
  12. 932
    “…Thus, 2SBS mutations in NA can drive acquisition of mutations in HA that not only restore the HA-NA balance, but may also confer increased zoonotic potential.…”
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    Mutation of the second sialic acid-binding site of influenza A virus neuraminidase drives compensatory mutations in hemagglutinin
  13. 933
    “…Only one FBC patient has PALB2 somatic mutation and two patients had LOH of PALB2. All germline PALB2 mutations were high-risk mutations, whereas the somatic PALB2 mutations were moderate-risk missense mutations. …”
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    Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers
  14. 934
    “…Finally, the synonymous mutations did not alter protein function or stability. …”
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    Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
  15. 935
    “…The mutational and phenotypic spectrum of TRPS is broadened by our study on TRPS mutations. …”
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    TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations
  16. 936
    “…This study aimed to estimate the incidence of KRAS, NRAS, and BRAF mutations in the Moroccan population, and investigate the associations of KRAS and NRAS gene mutations with clinicopathological characteristics and their prognosis value. …”
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    Mutation status and prognostic value of KRAS and NRAS mutations in Moroccan colon cancer patients: A first report
  17. 937
    “…With MutViz (http://gmql.eu/mutviz/), we have presented a user-friendly web tool for the identification of mutation enrichments that offers preloaded mutations from public datasets for a variety of cancer types, well organized within an effective database architecture. …”
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    MutViz 2.0: visual analysis of somatic mutations and the impact of mutational signatures on selected genomic regions
  18. 938
    “…BACKGROUND: Genes in the Ras pathway have somatic mutations in at least 60 % of colorectal cancers. Despite activating the same pathway, the BRAF V600E mutation and the prevalent mutations in codon 12 and 13 of KRAS have all been linked to different clinical outcomes, but the molecular mechanisms behind these differences largely remain to be clarified. …”
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    Common and mutation specific phenotypes of KRAS and BRAF mutations in colorectal cancer cells revealed by integrative -omics analysis
  19. 939
    “…Patients in the pathCR group had significantly higher tumour mutational burden and neoantigen load, frequent copy number alterations but fewer structural variants and enrichment for driver mutations in the PI3K/AKT/mTOR signalling pathway. …”
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    Complete response to neoadjuvant chemoradiotherapy in rectal cancer is associated with RAS/AKT mutations and high tumour mutational burden
  20. 940
    “…In this study, we develop a statistical pipeline using a new concept, called gene-motif, that utilizes both mutated genes and mutational processes to identify 4211 3-nucleotide PC-associated gene-motifs within 203 significantly mutated genes in PC. …”
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    Whole-Genome Analysis of De Novo Somatic Point Mutations Reveals Novel Mutational Biomarkers in Pancreatic Cancer
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