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  1. 2001
    “…Truncating mutations and aberrant BAP1 expression were common in sporadic mesotheliomas without germline mutations. …”
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    Germline BAP1 mutations predispose to malignant mesothelioma
  2. 2002
    por Menéndez-Arias, Luis
    Publicado 2009
    “…Although cellular polymerases and host factors contribute to retroviral mutagenesis, the RT errors play a major role in retroviral mutation. RT mutations that affect the accuracy of the viral polymerase have been identified by in vitro analysis of the fidelity of DNA synthesis, by using enzymological (gel-based) and genetic assays (e.g., M13mp2 lacZ forward mutation assays). …”
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    Mutation Rates and Intrinsic Fidelity of Retroviral Reverse Transcriptases
  3. 2003
    “…While an exonic frameshift mutation was found in the Jawad family, the SCKL2 family carries a splicing mutation that yields a dominant-negative form of CtIP. …”
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    CtIP Mutations Cause Seckel and Jawad Syndromes
  4. 2004
    “…The growing interest in quantifying the molecular basis of protein kinase activation and allosteric regulation by cancer mutations has fueled computational studies of allosteric signaling in protein kinases. …”
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    The Energy Landscape Analysis of Cancer Mutations in Protein Kinases
  5. 2005
    “…To contribute to the study of the relation between kinases and disease we compared pathogenic mutations to neutral mutations as an extension to our previous analysis of cancer somatic mutations. …”
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    Characterization of pathogenic germline mutations in human Protein Kinases
  6. 2006
    “…BACKGROUND: Mutations of the gene for PTEN-induced kinase 1 (PINK1) are a cause of familial Parkinson's disease (PD). …”
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    Bioenergetic Consequences of PINK1 Mutations in Parkinson Disease
  7. 2007
    “…BACKGROUND: Oncogenic BRAF mutations have been found in diverse malignancies and activate RAF/MEK/ERK signaling, a critical pathway of tumorigenesis. …”
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    BRAF Mutations in Advanced Cancers: Clinical Characteristics and Outcomes
  8. 2008
    “…CONCLUSIONS: Although the MET p.T992I genetic mutation is commonly found in somatic colorectal cancer tissues, this is the first report also implicating this MET genetic mutation as a germline inherited risk factor for familial colorectal cancer. …”
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    Activating mutation in MET oncogene in familial colorectal cancer
  9. 2009
    “…RESULTS: Screening of 389 probands by the APEX microarray and/or direct sequencing identified bi-allelic mutations in 29 families. Seventeen novel mutations were identified. …”
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    RDH12 retinopathy: novel mutations and phenotypic description
  10. 2010
    “…CONCLUSIONS: We report on the clinical and molecular findings of a five generation Greek family with CFD and we conclude that the novel c.3060–3063delCCTT (p.P968Vfs23) mutation in PIKFYVE, which segregated with the disease, was the causative mutation in this family.…”
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    A novel PIKFYVE mutation in fleck corneal dystrophy
  11. 2011
    “…We discovered that neighborhood features outperformed mutation site features in predicting TS mutations. …”
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    Neighborhood Properties Are Important Determinants of Temperature Sensitive Mutations
  12. 2012
    “…Although rare, some sheep were homozygous for TMEM154 deletion mutations and remained uninfected despite a lifetime of significant exposure. …”
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    Reduced Lentivirus Susceptibility in Sheep with TMEM154 Mutations
  13. 2013
    “…Overall, ~39% of DLBCL and 41% of FL cases display genomic deletions and/or somatic mutations that remove or inactivate the HAT coding domain of these two genes. …”
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    Inactivating mutations of acetyltransferase genes in B-cell lymphoma
  14. 2014
    “…Robertson’s Mutator (Mu) system has been used in large scale mutagenesis in maize, exploiting its high mutation frequency, controllability, preferential insertion in genes, and independence of donor location. …”
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    Identification of an Active New Mutator Transposable Element in Maize
  15. 2015
    “…Here we show, by analysing 162 disease-related genes from a variety of medical databases with a total of almost 20,000 observed pathogenic mutations, a significant difference in the electronic properties of the population of observed mutations compared to the set of all possible mutations. …”
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    The interplay of mutations and electronic properties in disease-related genes
  16. 2016
    “…We have generated a series of neprilysin variants containing mutations at either one of two active site residues, Phe(563) and Ser(546). …”
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    Active Site Mutations Change the Cleavage Specificity of Neprilysin
  17. 2017
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    The CHEK 2 GENE mutations and the risk of Gastric cancer
  18. 2018
    “…Computational methods were recently used to predict deleterious effects of nonsynonymous human mutations and polymorphisms. Here we focus on understanding the amino-acid mutation spectrum of human genetic disease. …”
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    The amino-acid mutational spectrum of human genetic disease
  19. 2019
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    Development of functional assays for BRCA1 missense mutations
  20. 2020
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    Screening breast cancer patients for Norwegian ATM mutations
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