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  1. 1861
    “…Within the AML cohort, mutations of NF1 are highly enriched, with deletions of 1 copy of NF1 present in 45% of cases and biallelic mutations in 17%. …”
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    Genomic landscape of TP53-mutated myeloid malignancies
  2. 1862
    “…In this study, we mapped all pathogenic mutations in 497 human protein kinase domains from the ClinVar database to the reference structure of Aurora kinase A (AURKA) and grouped them by the relevance to the disease type. …”
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    Pathogenic mutation hotspots in protein kinase domain structure
  3. 1863
    “…METHODS: The paraffin‐embedded tissue specimens of 38 patients with rectal NENs after surgery were subjected to whole gene sequencing (WGS), and mutation profilings were drawn to identify high‐frequency mutation genes, copy‐number variations (CNVs), tumor mutation burden (TMB), signal pathways, mutation signatures, DNA damage repair (DDR) genes, and molecular types. …”
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    Molecular typing and mutational characterization of rectal neuroendocrine neoplasms
  4. 1864
    “…The mutation rate plays an important role in adaptive evolution. …”
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    Phenotype switching of the mutation rate facilitates adaptive evolution
  5. 1865
    “…However, for GTF2I wild-type tumors, the relevant mutations remain to be identified. METHODS: We performed a meta-analysis and identified 4,208 mutations in 339 patients. …”
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    Somatic mutations of thymic epithelial tumors with myasthenia gravis
  6. 1866
    por Yuan, Ji, He, Rong, Alkhateeb, Hassan B.
    Publicado 2023
    “…RECENT FINDINGS: Due to the recent advances in molecular testing and the prognostic role of CEBPA mutation in AML, the definition for AML with CEBPA mutation (AML-CEBPA) has significantly changed. …”
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    Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations
  7. 1867
    “…BACKGROUND: To identify the mutational spectrum in a Chinese cohort with congenital cataracts. …”
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    Mutational spectrum in a Chinese cohort with congenital cataracts
  8. 1868
    “…The present study investigates the impact of the detected mutations (p.Ala373Ser, and p.Thr725Pro) on the TPO dimer protein. …”
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    Investigation of the impact of nonsynonymous mutations on thyroid peroxidase dimer
  9. 1869
    por Crotti, Lia, Spazzolini, Carla, Nyegaard, Mette, Overgaard, Michael T, Kotta, Maria-Christina, Dagradi, Federica, Sala, Luca, Aiba, Takeshi, Ayers, Mark D, Baban, Anwar, Barc, Julien, Beach, Cheyenne M, Behr, Elijah R, Bos, J Martijn, Cerrone, Marina, Covi, Peter, Cuneo, Bettina, Denjoy, Isabelle, Donner, Birgit, Elbert, Adrienne, Eliasson, Håkan, Etheridge, Susan P, Fukuyama, Megumi, Girolami, Francesca, Hamilton, Robert, Horie, Minoru, Iascone, Maria, Jaimez, Juan Jiménez, Jensen, Henrik Kjærulf, Kannankeril, Prince J, Kaski, Juan P, Makita, Naomasa, Muñoz-Esparza, Carmen, Odland, Hans H, Ohno, Seiko, Papagiannis, John, Porretta, Alessandra Pia, Prandstetter, Christopher, Probst, Vincent, Robyns, Tomas, Rosenthal, Eric, Rosés-Noguer, Ferran, Sekarski, Nicole, Singh, Anoop, Spentzou, Georgia, Stute, Fridrike, Tfelt-Hansen, Jacob, Till, Jan, Tobert, Kathryn E, Vinocur, Jeffrey M, Webster, Gregory, Wilde, Arthur A M, Wolf, Cordula M, Ackerman, Michael J, Schwartz, Peter J
    Publicado 2023
    “…AIMS: Calmodulinopathy due to mutations in any of the three CALM genes (CALM1–3) causes life-threatening arrhythmia syndromes, especially in young individuals. …”
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    Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
  10. 1870
    “…Mitochondrial DNA (mtDNA) mutations are frequently observed in cancer, but their contribution to tumor progression is controversial. …”
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    Pathogenic mitochondrial DNA mutations inhibit melanoma metastasis
  11. 1871
    “…The rates of mutations vary across cell types. To identify causes of this variation, mutations are often decomposed into a combination of the single base substitution (SBS) “signatures” observed in germline, soma and tumors, with the idea that each signature corresponds to one or a small number of underlying mutagenic processes. …”
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    Disentangling sources of clock-like mutations in germline and soma
  12. 1872
    “…BACKGROUND: Mutations in Myosin Binding Protein C (MYBPC3) are one of the most frequent causes of cardiomyopathies in the world, but not much data are available in India. …”
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    Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies
  13. 1873
    “…Eighteen patients had heterozygous mutations; others were homozygous. The majority presented with facial dysmorphism (n = 22). …”
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    Insight into Genetic Mutations of SZT2: Is It a Syndrome?
  14. 1874
    “…Telomerase promoter (TERTp) mutations are frequently observed in various types of tumours and commonly characterised by two specific hotspots located at positions −124 and −146 upstream of the start codon. …”
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    TERTmonitor—qPCR Detection of TERTp Mutations in Glioma
  15. 1875
    “…After normalizing the mutation spectrum for reference genome accessibility and k-mer content, we use the Mantel test to deduce that mutation spectrum divergence is highly correlated with genetic divergence between species, whereas life history traits like reproductive age are weaker predictors of mutation spectrum divergence. …”
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    Evolution of the Mutation Spectrum Across a Mammalian Phylogeny
  16. 1876
    “…This study aims to elucidate the associated functions and gene sets of mutated genes in children with hyperthyroidism in terms of the gene ontology through GO enrichment analysis and in terms of biological signaling pathways through KEGG enrichment analysis, thereby enhancing our understanding of the expected effects of multiple mutated genes on hyperthyroidism in children. …”
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    Functional enrichment analysis of mutated genes in children with hyperthyroidism
  17. 1877
    “…Towards this, here we contrast the cell-type-specific impact of unique patient-specific mutations in NRXN1 using human induced pluripotent stem cells. …”
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    Precise Therapeutic Targeting of Distinct NRXN1(+/−) Mutations
  18. 1878
    “…METIS identifies metabolism-altering cancer mutations using mutation recurrence rates and protein structure. …”
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    Mining cancer genomes for change-of-metabolic-function mutations
  19. 1879
    “…BACKGROUND AND AIM: In neuroblastoma, anaplastic lymphoma kinase mutations have recently received attention as molecular targets for the treatment of neuroblastoma, as 6% to 10% of patients with neuroblastoma have anaplastic lymphoma kinase mutations. …”
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    Identification of ALK Mutation in Neuroblastoma on the Point of Molecular Heterogeneity
  20. 1880
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    Editorial: Structural understanding of the functional consequences of missense mutation
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