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  1. 196041
    “…Compared to molecular subtypes reported by TCGA or other similar approaches, the subtypes generated by DeClust had higher correlations with cancer-intrinsic genomic alterations (e.g., somatic mutations and copy number variations) and lower correlations with tumor purity. …”
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    A reference profile-free deconvolution method to infer cancer cell-intrinsic subtypes and tumor-type-specific stromal profiles
  2. 196042
    “…BACKGROUND: Mutations in PINK1 and parkin cause autosomal recessive Parkinson’s disease (PD). …”
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    PARIS induced defects in mitochondrial biogenesis drive dopamine neuron loss under conditions of parkin or PINK1 deficiency
  3. 196043
    “…Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder characterized by craniofacial, skeletal, and neurological anomalies and is caused by mutations in EFNB1. Heterozygous females are more severely affected by CFNS than hemizygous males, a phenomenon called cellular interference that results from EPHRIN-B1 mosaicism. …”
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    Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome
  4. 196044
    “…PURPOSE: Mutations in hepatocyte nuclear factor 1α (HNF1α) are the cause of maturity-onset diabetes of the young type 3 (MODY3) and involved in the development of hepatocellular adenoma and abnormal lipid metabolism. …”
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    Loss of HNF1α Function Contributes to Hepatocyte Proliferation and Abnormal Cholesterol Metabolism via Downregulating miR-122: A Novel Mechanism of MODY3
  5. 196045
    “…Malaria drug resistance is a global public health concern. Though parasite mutations have been associated with resistance, other factors could influence the resistance. …”
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    A seven-year surveillance of epidemiology of malaria reveals travel and gender are the key drivers of dispersion of drug resistant genotypes in Kenya
  6. 196046
    por Loureiro, Joana, Ploegh, Hidde L.
    Publicado 2006
    “…Relatively small genomes and high replication rates allow viruses and bacteria to accumulate mutations. This continuously presents the host immune system with new challenges. …”
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    Antigen Presentation and the Ubiquitin‐Proteasome System in Host–Pathogen Interactions
  7. 196047
    por Theimer, Carla A., Giedroc, David P.
    Publicado 1999
    “…In particular, the mIAP pseudoknot is proposed to contain an unpaired adenosine base at the junction of the two helical stems (A15), as well as one in the middle of stem 2 (A35). A mutational analysis of stem 1 hairpins and compensatory base-pair substitutions incorporated into helical stem 2 was used to assign optical melting transitions to molecular unfolding events. …”
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    Equilibrium unfolding pathway of an H-type RNA pseudoknot which promotes programmed −1 ribosomal frameshifting
  8. 196048
    por Zhang, Xuming, Liu, Runzhong
    Publicado 2000
    “…Deletion analysis showed that the sequence as few as 13 nt was sufficient to initiate mRNA transcription, while mutations within the 13-nt abolished mRNA transcription. …”
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    Identification of a Noncanonical Signal for Transcription of a Novel Subgenomic mRNA of Mouse Hepatitis Virus: Implication for the Mechanism of Coronavirus RNA Transcription
  9. 196049
    “…In this paper, we evaluated if an Fc-fused mutated protein analog of mouse IL-2, named Fc.Mut24, engineered to selectively promote the expansion of Tregs in vivo can modulate factor VIII-specific immune responses. …”
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    A Treg-Selective IL-2 Mutein Prevents the Formation of Factor VIII Inhibitors in Hemophilia Mice Treated With Factor VIII Gene Therapy
  10. 196050
    “…Essential thrombocythemia (ET) is comprised among chronic myeloproliferative neoplasms (MPN) and is caused by driver mutations in JAK2, CALR, and MPL, which lead to megakaryocyte proliferation and prominent thrombocytosis. …”
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    Platelet Toll-Like Receptors Mediate Thromboinflammatory Responses in Patients With Essential Thrombocythemia
  11. 196051
    por Kim, Thomas
    Publicado 2020
    “…We have further utilised scRNA-Seq to phenotype mutations in genes that play major roles in early hypothalamic patterning. …”
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    MON-719 The Cellular and Molecular Landscape of Hypothalamic Patterning and Differentiation
  12. 196052
    “…Allgrove’s syndrome is an inherited condition caused by mutations in the AAAS gene (encoding the protein ALADIN) and is inherited in an autosomal recessive pattern (1). …”
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    SAT-LB43 Allgrove’s: A Syndrome for the “A”ges
  13. 196053
    “…Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare, autosomal dominant disorder associated with tumors of the parathyroid glands, pituitary gland, and gastroenteropancreatic cells caused by mutations of the MEN1 tumor-suppressor gene. Thescarcity with which this syndrome is encountered makes diagnosis challenging in rural settings. …”
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    SUN-912 The Rare Men of Mississippi Complications in the Diagnosis of Multiple Endocrine Neoplasia Type 1
  14. 196054
    “…Discussion: Alpelisib is a PI3K inhibitor used in the treatment of postmenopausal women and men with hormone receptor positive, human epidermal growth factor receptor-2 negative, PIK3CA-mutated metastatic breast cancer. It inhibits PI3K which in turn inhibits protein kinase B (AKT). …”
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    MON-678 Worsening Diabetes Control in Breast Cancer Patients Treated with Alpelisib
  15. 196055
    “…Resistance to thyroid hormone due to beta-receptor mutations (RTH-beta) is the most common form of this entity and is characterized by reduced response of peripheral tissues to the action of thyroid hormone. …”
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    MON-478 Impaired Sensitivity to Thyroid Hormone - A Diagnostic and Therapeutic Challenge
  16. 196056
    “…BACKGROUND: WHO grade II/III gliomas frequently harbor isocitrate dehydrogenase 1 (IDH1) mutations, resulting in intratumoral accumulation of oncometabolite D-2-hydroxyglutarate (D-2-HG) and subsequent clonal expansion. …”
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    ACT-14 A FIRST-IN-HUMAN STUDY OF MUTANT IDH1 INHIBITOR DS-1001B IN PATIENTS WITH RECURRENT GLIOMAS
  17. 196057
    “…Recent studies have suggested an increased risk of prostate cancer in men with Lynch syndrome driven by germline mutations in mismatch repair (MMR) genes. However, the incidence and clinical implication of MMR deficiency in sporadic prostate cancers remain poorly understood. …”
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    Loss of DNA mismatch repair proteins in prostate cancer
  18. 196058
    “…Further studies are needed to confirm this observation and to define whether it is driven by genotype-specific mutations.…”
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    Effectiveness of sofosbuvir based direct-acting antiviral regimens for chronic hepatitis C virus genotype 6 patients: Real-world experience in Vietnam
  19. 196059
    “…Complete loss-of-function variants were found in four ATP7A alleles (frequency = 0.0000194), including three frameshift/nonsense mutations and one canonical splice donor site defect. …”
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    Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)
  20. 196060
    “…In contrast, children with persistent discordant immunovirological responses show accumulation of mutations and purifying selection in pol gene sequences, indicating limited genetic evolution and likely suggesting genetic adaptation of viruses to host functional constraints.…”
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    Purifying Selection in Human Immunodeficiency Virus-1 pol Gene in Perinatally Human Immunodeficiency Virus-1-Infected Children Harboring Discordant Immunological Response and Virological Nonresponse to Long-Term Antiretroviral Therapy
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