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  1. 2541
    “…Colonization of new habitats often reduces population sizes and may result in the accumulation of deleterious mutations by genetic drift. Compared with the genomic basis for adaptation to new environments, genome-wide analysis of deleterious mutations in isolated populations remains limited. …”
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    Accumulation of Deleterious Mutations in Landlocked Threespine Stickleback Populations
  2. 2542
    “…(https://doi.org/10.1084/jem.20191499) describe somatic mutations in the SMAD3 gene causing endosteal melorheostosis. …”
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    Hide and seek: Somatic SMAD3 mutations in melorheostosis
  3. 2543
    por Maemondo, Makoto
    Publicado 2020
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    Potential of combination therapy in EGFR mutated lung cancer
  4. 2544
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    KRAS mutations in uterine endometrium are associated with gravidity and parity
  5. 2545
    por Stenton, Sarah L., Prokisch, Holger
    Publicado 2020
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    Genetics of mitochondrial diseases: Identifying mutations to help diagnosis
  6. 2546
    “…Recent genome editing technologies based on high-throughput DNA synthesis and sequencing may help to predict mutations resulting in resistance by testing large mutagenesis libraries. …”
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    Predicting Drug Resistance Using Deep Mutational Scanning
  7. 2547
    “…Four parathyroid adenomas (1%) had subclonal, somatic, heterozygous, activating PIK3CA mutations. The rarity of PIK3CA activating mutations in benign parathyroid adenomas suggests that tumorigenic activation of PIK3CA is strongly associated with malignant parathyroid neoplasia. …”
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    PIK3CA Mutational Analysis of Parathyroid Adenomas
  8. 2548
    “…Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients. …”
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    Consequences of Lmna Exon 4 Mutations in Myoblast Function
  9. 2549
    “…Cancers develop as a result of driver mutations(1,2) that lead to clonal outgrowth and disease evolution(3,4). …”
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    Phase and context shape the function of composite oncogenic mutations
  10. 2550
    por Zhu, Ming, Chisholm, Andrew D, Jin, Yishi
    Publicado 2020
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    A null mutation of C. elegans vwa-8
  11. 2551
    “…MATERIAL AND METHODS: Tumour samples from 1292 patients with BTC, comprising intrahepatic cholangiocarcinoma (IHC, n=746), extrahepatic cholangiocarcinoma (EHC, n=189) and gallbladder cancer (GBC, n=353), were analysed using next-generation sequencing (NGS). Tumour mutational burden (TMB) was calculated based on somatic non-synonymous missense mutations. …”
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    Molecular profile of BRCA-mutated biliary tract cancers
  12. 2552
    “…Multiple studies implicate heterozygous GBA mutations as a major genetic risk factor for Parkinson's disease (PD); however, the frequency of mutations has never been examined in PD patients from the Irish population. …”
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    Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland
  13. 2553
    “…A subgroup harboring a BRAF mutation has been described, and represents approximately 10% of the patients diagnosed with colon cancer. …”
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    BRAF Mutated Colorectal Cancer: New Treatment Approaches
  14. 2554
    “…In this review we summarize the importance of germline alterations that act as predictive biomarkers for drug-induced toxicity and drug response as well as somatic mutations in cancer cells that function as drug targets. …”
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    The Roles of Common Variation and Somatic Mutation in Cancer Pharmacogenomics
  15. 2555
    “…Both mutations impair the secretion of COMP by tenocytes, but the mutation associated with MED also perturbs its secretion in chondrocytes. …”
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    Mutations in COMP cause familial carpal tunnel syndrome
  16. 2556
    “…Most mutations in human cancer are low-frequency missense mutations, whose functional status remains hard to predict. …”
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    Defining relative mutational difficulty to understand cancer formation
  17. 2557
    “…We will also discuss the resistance mechanisms identified so far, and the future therapeutic perspectives in BRAF mutated melanoma.…”
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    Current State of Target Treatment in BRAF Mutated Melanoma
  18. 2558
    “…Based on a systematic evaluation of all possible 3686 future mutations on the S protein receptor-binding domain, we show that most likely future mutations will make SARS-CoV-2 more infectious. …”
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    Mutations Strengthened SARS-CoV-2 Infectivity
  19. 2559
    “…BACKGROUND: Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard of care, but there are few data on long-term outcomes in mutation carriers without HCM. …”
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    Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers
  20. 2560
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    De novo mutations in autosomal recessive congenital malformations
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