Materias dentro de su búsqueda.
Mostrando 2,701 - 2,720 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.83s Limitar resultados
  1. 2701
    “…BACKGROUND AND OBJECTIVES: Putative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes of ABCA7 pLOF mutation carriers from a large retrospectively reviewed series. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Clinical Deep Phenotyping of ABCA7 Mutation Carriers
  2. 2702
    por Lee, Hyunjee, Kim, Hyunjin, Kim, Hyun-Soo
    Publicado 2022
    “…Targeted sequencing analysis revealed that the tumor harbored both activating KRAS p.G12D mutation and truncating TP53 p.E286* mutation. A thorough review of the previous literature revealed that 4.5% (3/67) of vaginal/cervical MAs and 0.9% (1/112) of uterine/ovarian mesonephric-like adenocarcinomas harbor TP53 mutations, indicating that this is very uncommon in malignant mesonephric lesions. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mesonephric Adenocarcinoma of the Vagina Harboring TP53 Mutation
  3. 2703
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia
  4. 2704
    “…Here we test this assumption with large surveys of de novo mutations in the plant Arabidopsis thaliana. In contrast to expectations, we find that mutations occur less often in functionally constrained regions of the genome—mutation frequency is reduced by half inside gene bodies and by two-thirds in essential genes. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutation bias reflects natural selection in Arabidopsis thaliana
  5. 2705
    “…Chin and colleagues used detailed mutational analysis of aged mice and transplantation to evaluate the mouse as a model of clonal hematopoiesis (CH). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Aged healthy mice acquire clonal hematopoiesis mutations
  6. 2706
    “…Somatic CBL mutations can be found in different type of cancer. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Role of CBL Mutations in Cancer and Non-Malignant Phenotype
  7. 2707
    “…However, nail dysplasia has never been associated with these mutations. Our patients had varying degrees of nail dysplasia. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
  8. 2708
    “…CONCLUSION: M694V was the most common and severe mutation in our cohort. The presence of a first-degree relative with FMF and Pras scores ≥5.5 may predict a homozygous or compound heterozygous mutation for M694V.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Prediction of More Severe MEFV Gene Mutations in Childhood
  9. 2709
    “…Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutational Landscape of Autism Spectrum Disorder Brain Tissue
  10. 2710
    “…The large number of mutations in the receptor binding domain (RBD) of the spike protein is responsible for strengthening of the spike-angiotensin-converting enzyme 2 (ACE2) interaction, thereby explaining the elevated threat. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    There is nothing exempt from the peril of mutation – The Omicron spike
  11. 2711
    por Shi, Yumeng, Li, Xinbo, Yang, Jin
    Publicado 2022
    “…In this review article, we describe the main role of Cx46 and Cx50 connexin proteins in the lens and the relationship between mutations of Cx46 or Cx50 and hereditary cataracts. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutations of CX46/CX50 and Cataract Development
  12. 2712
    por Boyce, Kylie J.
    Publicado 2022
    “…Strains which exhibit an elevated mutation rate are termed mutators. Mutators are found in varying prevalence in clinical populations where large-effect beneficial mutations enhance survival and are predominately caused by defects in the DNA mismatch repair (MMR) pathway. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutators Enhance Adaptive Micro-Evolution in Pathogenic Microbes
  13. 2713
    “…Prime editing is a versatile genome-editing technique that shows great promise for the generation and repair of patient mutations. However, some genomic sites are difficult to edit and optimal design of prime-editing tools remains elusive. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutation-specific reporter for optimization and enrichment of prime editing
  14. 2714
    “…In this review, we address the current understanding of the somatic mtDNA mutations, with an emphasis of when, where, and how these mutations arise during aging. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The Complicated Nature of Somatic mtDNA Mutations in Aging
  15. 2715
    “…Rett syndrome (RTT) is a rare neurodevelopmental disorder characterized by severe cognitive, social, and physical impairments resulting from de novo mutations in the X-chromosomal methyl-CpG binding protein gene 2 (MECP2). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation
  16. 2716
    “…We aimed to summarize the available evidence on somatic mutations and clonality within KS to assess whether KS is a neoplasm or not. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Clonality, Mutation and Kaposi Sarcoma: A Systematic Review
  17. 2717
    por Peng, Yue, Tang, Qianyu, Xiao, Fan, Fu, Nian
    Publicado 2022
    “…Thereby, this review mainly focuses on the regulatory mechanism of the mutations in the lamin gene in lipid alterations and the human diseases. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Regulation of Lipid Metabolism by Lamin in Mutation-Related Diseases
  18. 2718
    por Lopez, Samuel, He, Fang
    Publicado 2022
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Spinocerebellar Ataxia 36: From Mutations Toward Therapies
  19. 2719
    “…Since the Cancer Genome Atlas (TCGA) project identified four distinct groups based on molecular alterations, mutation analyses have been integrated into the characterization of endometrial carcinomas (ECs). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Relevance of ARID1A Mutations in Endometrial Carcinomas
  20. 2720
    “…Among the most notable findings was the recognition of mutational hot-spots in the isocitrate dehydrogenase (IDH) genes. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    IDH1/2 mutations in acute myeloid leukemia
Herramientas de búsqueda: RSS