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  1. 2181
    “…Heterozygous familial or sporadic GATA2 mutations cause a multifaceted disorder, encompassing susceptibility to infection, pulmonary dysfunction, autoimmunity, lymphoedema and malignancy. …”
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    Haematopoietic and immune defects associated with GATA2 mutation
  2. 2182
    “…The review will conclude with a summary of mutations in genes encoding subunits of the ATP synthase that are known to be responsible for human disease, and a brief discussion on SNPs.…”
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    Understanding structure, function, and mutations in the mitochondrial ATP synthase
  3. 2183
    “…Here, by sequencing the entire exomes of nine early-onset familial breast cancer patients without BRCA1/2 mutations (diagnosed with breast cancer at or before the age of 35) we found that two index cases carried a potentially deleterious mutation in the RECQL gene (RecQ helicase-like; chr12p12). …”
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    Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer
  4. 2184
    “…Here we review recent advances in detection and characterization of ESR1 mutations in advanced, endocrine therapy-resistant breast cancers. …”
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    Estrogen receptor mutations and their role in breast cancer progression
  5. 2185
    “…MED12 mutations were also identified in 36 of the 58 fibroadenomas (62%). …”
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    Frequent MED12 mutations in phyllodes tumours of the breast
  6. 2186
    “…The higher mutation frequency in tumor cell lines indicates that Notch mutations are associated with a growth advantage in vitro, and thus may be considered to be driver mutations in a tumor cell line context. …”
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    Frequency and distribution of Notch mutations in tumor cell lines
  7. 2187
    “…RESULTS: We identified four cases of ESFTs harboring IDH mutations. The number of IDH1 and IDH2 mutations was equal and the subtype of IDH mutations was variable. …”
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    IDH Mutation Analysis in Ewing Sarcoma Family Tumors
  8. 2188
    “…Haplotyping analysis indicated a founder effect of the AP4M1 mutation, whereas the AZGP1 mutation arose more recently in our family. …”
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    Contiguous mutation syndrome in the era of high-throughput sequencing
  9. 2189
    por Songdej, Natthapol, Rao, A. Koneti
    Publicado 2015
    “…There is increasing evidence that mutations in hematopoietic transcription factors are major players in the pathogenesis of defective megakaryopoiesis and platelet dysfunction in patients with inherited platelet disorders. …”
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    Hematopoietic transcription factor mutations and inherited platelet dysfunction
  10. 2190
    “…Although our power of detection was limited, we observed an increased mutation burden in the genes that have DNM.…”
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    Mutation Burden of Rare Variants in Schizophrenia Candidate Genes
  11. 2191
    “…Although this mutation appears potentially pathogenic in its functional aspects, it was also carried by the healthy father. …”
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    PCSK5 mutation in a patient with the VACTERL association
  12. 2192
    “…These results have important implications for studies of the effects of cytochrome c mutations on the intrinsic apoptosis pathway.…”
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    Interspecies Variation in the Functional Consequences of Mutation of Cytochrome c
  13. 2193
    por Bloom, Jesse D
    Publicado 2015
    “…BACKGROUND: Deep mutational scanning is a technique to estimate the impacts of mutations on a gene by using deep sequencing to count mutations in a library of variants before and after imposing a functional selection. …”
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    Software for the analysis and visualization of deep mutational scanning data
  14. 2194
    “…The present study aimed to identify the genetic mutations in two families affected with congenital cataracts. …”
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    Mutation analysis of two families with inherited congenital cataracts
  15. 2195
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    Microarray-based optimization to detect genomic deletion mutations
  16. 2196
    “…Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM. …”
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    Mutation of ATF6 causes autosomal recessive achromatopsia
  17. 2197
    “…CONCLUSIONS: This study did not demonstrate glucocerebrosidase substrate accumulation in PD brains with heterozygote GBA1 mutations in areas of the brain with low α‐synuclein pathology. © 2015 The Authors. …”
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    No evidence for substrate accumulation in Parkinson brains with GBA mutations
  18. 2198
    “…Integration of protein structural information with human genetic variation and pathogenic mutations is essential to understand molecular mechanisms associated with the effects of polymorphisms on protein interactions and cellular processes. …”
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    Anatomy of protein disorder, flexibility and disease-related mutations
  19. 2199
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    BRCA1 founder mutations and ovarian cancer in Belarus
  20. 2200
    “…Rates of spontaneous mutation critically determine the genetic diversity and evolution of RNA viruses. …”
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    Extremely High Mutation Rate of HIV-1 In Vivo
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