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Mostrando 581 - 600 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.83s Limitar resultados
  1. 581
    “…SIMPLE SUMMARY: We developed a method to detect a single-point mutation in an obese gene in a mouse research model. …”
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    Tetra-Primer Amplification-Refractory Mutation System (ARMS)—PCR for Genotyping Mouse Leptin Gene Mutation
  2. 582
    “…BACKGROUND: Familial adenomatous polyposis (FAP) is a hereditary disorder primarily caused by germline mutations in the APC gene. The most common type of mutation in the APC gene is point mutation, while deletion mutation is much less frequent. …”
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    The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis
  3. 583
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    S130: NPM1 MUTATED AML: IMPACT OF CO-MUTATIONAL PATTERNS - RESULTS OF THE EUROPEAN HARMONY ALLIANCE
  4. 584
    “…In this study, we evaluated the performance of ODxTT and cobas EGFR mutation test v2 (cobas EGFR), one of the single‐molecule tests, in detecting EGFR mutations. …”
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    Comparison of next‐generation sequencing and cobas EGFR mutation test v2 in detecting EGFR mutations
  5. 585
    “…An analysis of total 212 samples showed mutations in 38.67% of cases. Among these, five (5.9%) samples had mutations in exon 18, 41 (48.8%) samples had mutations in exon 19, 12 (14.28%) samples had mutations in exon 20, and 26 (30.95%) samples had mutations in exon 21. …”
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    Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients
  6. 586
    “…This study aimed to examine whether TERT promoter mutations coexisting with other mutations are linked to more aggressive disease than TERT promoter mutations alone. …”
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    Effect of Having Concurrent Mutations on the Degree of Aggressiveness in Patients with Thyroid Cancer Positive for TERT Promoter Mutations
  7. 587
    “…Therefore, our study expands the spectrum of mutations associated with KS and provides diagnostic evidence for patients who carry the same mutation in the future. …”
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    Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1
  8. 588
    “…BACKGROUND: The presence of somatic mitochondrial DNA (mtDNA) mutations in cancer cells has been interpreted in controversial ways, ranging from random neutral accumulation of mutations, to positive selection for high pathogenicity, or conversely to purifying selection against high pathogenicity variants as occurs at the population level. …”
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    Somatic mitochondrial DNA mutations in cancer escape purifying selection and high pathogenicity mutations lead to the oncocytic phenotype: pathogenicity analysis of reported somatic mtDNA mutations in tumors
  9. 589
    “…The father had the same heterozygous mutation; however, the mutation was absent in the proband's mother. …”
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    Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin
  10. 590
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    Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
  11. 591
    “…Recurrent loss-of-function mutations in the phage repressor that controls prophage induction leads to constitutively lytic phage-plasmids that spread rapidly throughout the population. …”
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    Mutation-induced infections of phage-plasmids
  12. 592
    “…HRAS mutations were present in most squamous cell carcinomas and adenocarcinomas of the lung. …”
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    Mutational Damages in Malignant Lung Tumors
  13. 593
    “…Second, mutation leads to diverse communities of cooperators that are more resilient than homogeneous ones. …”
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    Mutation enhances cooperation in direct reciprocity
  14. 594
    por Hermouet, Sylvie
    Publicado 2023
    “…Knowledge on the myeloproliferative neoplasms (MPNs) – polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) – has accumulated since the discovery of the JAK/STAT-activating mutations associated with MPNs: JAK2V617F, observed in PV, ET and PMF; and the MPL and CALR mutations, found in ET and PMF. …”
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    Mutations, inflammation and phenotype of myeloproliferative neoplasms
  15. 595
    “…The clinical phenotype of somatic mutations in endometriosis is unknown. The objective was to determine whether somatic KRAS mutations were associated with greater disease burden in endometriosis (i.e. more severe subtypes and higher stage). …”
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    KRAS mutations and endometriosis burden of disease
  16. 596
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    Mutation and aging: news from the pool
  17. 597
    “…Stochastic models of sequential mutation acquisition are widely used to quantify cancer and bacterial evolution. …”
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    Sequential mutations in exponentially growing populations
  18. 598
    “…Diverse mutations are reported in other genes, which are part of secondary or less critical signaling pathways for tumor progression, but which amplify the phenotypic diversity of appendiceal cancers. …”
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    Landscape of Genetic Mutations in Appendiceal Cancers
  19. 599
    “…SIMPLE SUMMARY: Chondrosarcomas are cartilage tumours that often harbour a mutation in one of the isocitrate dehydrogenase (IDH) genes. …”
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    IDH Mutations in Chondrosarcoma: Case Closed or Not?
  20. 600
    por Morton, Brian R.
    Publicado 2023
    “…Mutations and subsequent repair processes are known to be strongly context-dependent in the flowering-plant chloroplast genome. …”
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    Context and Mutation in Gymnosperm Chloroplast DNA
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