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  1. 196921
    por Mishra, Ritu
    Publicado 2019
    “…Importantly, >20% of lung adenoCa harbor mutations in transcription factor NRF2 and its inhibitor KEAP1 that promote NRF2 activation. …”
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    MON-315 Transcription Factor NRF2 May Serve as a Master Regulator of Immune Modulation and Lung Cancer Progression
  2. 196922
    “…The most common MODY types are due to heterozygous mutations in the HNF1A, HNF4A, or GCK genes. Sulfonylureas are the first line treatment for HNF1A-/HNF4A-MODY, with stable or improved glycemic control compared to insulin (1). …”
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    MON-009 The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing
  3. 196923
    “…HPP is an uncommon neuromuscular disorder with 1 in 100,000 cases. It results from mutations in sodium, calcium and potassium channels in the skeletal muscles. …”
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    MON-428 More Danger Than We Knew: Hypokalemic Periodic Paralysis Triggered by Alcohol Consumption
  4. 196924
    “…Patients with CAIS are phenotypically female with a 46, XY karyotype, have elevated testosterone, LH, and FSH levels, and have little or no virilization due to androgen receptor gene mutations. The recommended treatment is orchiectomy due to the increased risk of gonadal malignancy and post-operative hormonal therapy. …”
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    SAT-213 Late Diagnosis of Complete Androgen Insensitivity
  5. 196925
    “…Conclusion: This novel approach combining bioinformatics and modern genetics successfully led to the identification of a genetic etiology in 3 of 10 patients, giving a yield of 30% including identification of two patients with novel pathogenic mutations in IGFIR. Notably, these patients were otherwise missed clinically as having a genetic condition. …”
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    OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Testing Identifies a Molecular Diagnosis in Three Patients with Undiagnosed Short Stature
  6. 196926
    “…Makorin ring finger protein 3 (MKRN3) was identified as a regulator of puberty initiation with the report of loss-of-function mutations in association with central precocious puberty (CPP). …”
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    OR08-3 The Role Of Neuronal Plasticity In The Timing Of Puberty Onset: Insights From A Mkrn3 Deficient Mouse Model.
  7. 196927
    “…It is due to impaired lipoprotein lipase (LPL) function, typically caused by bi-allelic LPL loss-of-function mutations. Although FCS generally presents in childhood with acute pancreatitis and HTG, it should also be considered as a diagnosis in adults with severe HTG. …”
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    OR21-3 Familial Chylomicronemia Syndrome: Distinguishing the Rare Among the Common in Adults for Appropriate Management
  8. 196928
    “…We therefore studied the progeny of wild-type (WT) adults (second and third generations), descendent of grandmothers and great grandmothers with high TH levels but euthyroid due to THRB gene mutations, who gave birth to the first WT generation exposed to high TH levels during fetal life. …”
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    OR10-5 Reduced Sensitivity to Thyroid Hormone Due to Fetal Exposure to High Thyroid Hormone Levels Is Transmitted along Male Line to Two Subsequent Generations
  9. 196929
    “…PHP type 1B is associated with defects in the regulatory elements of GNAS1 whereas PHP type 1A is due to loss of function mutations in GNAS1. All cases of hypercalcemic hyperparathyroidism in PHP have been noted in PHP type 1B which indicates that the resistance to PTH in PHP type 1B is only relative and can be overcome when the PTH becomes markedly elevated. …”
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    OR30-6 Parathyroid Carcinoma as a Complication of Inadequately Treated Pseudohypoparathyroidism
  10. 196930
    “…Makorin Ring Finger Protein 3 (MKRN3) is an important neuroendocrine player in the control of pubertal timing. Loss-of-function mutations in MKRN3 are the most common genetic cause of central precocious puberty. …”
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    OR07-2 Elucidating The Mechanisms Of Action Of Mkrn3 In A Novel Mouse Model Of Delayed Puberty.
  11. 196931
    “…VDR mRNA level was inversely correlated with serum phosphate(P) and upregulated in KCNJ5 mutated APAs than wild type. CYP11A1 and CYP17A mRNA expression levels were significantly increased in cell line by PTH treatment. …”
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    OR02-3 Endocrinological Crosstalk between Calcium Metabolism and Steroidogenesis in Primary Aldosteronism
  12. 196932
    “…Further metabolomics and genomics analyses, coupled with molecular biology studies revealed that mutations SpeB(A302V), AtpB(S165N) and SecY(M145V) mainly contributed both to improved cell integrity under stress conditions and enhanced metabolic flux into lysine synthesis. …”
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    GREACE-assisted adaptive laboratory evolution in endpoint fermentation broth enhances lysine production by Escherichia coli
  13. 196933
    “…The Vgsc-L1014F and ace-1 mutations within the population were also characterized using PCR methods. …”
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    High insecticide resistance intensity of Anopheles gambiae (s.l.) and low efficacy of pyrethroid LLINs in Accra, Ghana
  14. 196934
    por Lyu, Chuang, Cai, Xuehui
    Publicado 2019
    “…Finally, the identified amino acids were replaced with alanine for confirming if these mutations could impair the specific localization of pUL56. …”
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    A GFP-tagged version of the pseudorabies virus protein UL56 localizes to the Golgi and trans-Golgi network through a predicted C-terminal leucine-rich helix in transfected cells
  15. 196935
    “…The G9 VP7 sequences of the study strains formed a monophyletic cluster with contemporary African G9 sequences from neighbouring Burkina Faso within the major sub-cluster of lineage III. Mutations identified in the primer binding region of the VP8* sequence of the Ghanaian P[8]a strains may have resulted in the genotyping failure since the newly designed primer successfully genotyped the previously non-typeable P[8] strains. …”
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    Genetic analysis of Ghanaian G1P[8] and G9P[8] rotavirus A strains reveals the impact of P[8] VP4 gene polymorphism on P-genotyping
  16. 196936
    “…METHODS: In order to identify all genes for which mutations or association/linkage have been found in individuals with CP, we conducted a systematic literature search, followed by bioinformatics analyses for these genes. …”
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    MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells
  17. 196937
    “…Since NGS protocol is associated with tons of non-specific mutations due to the variation in background genetic makeup of subjects, therefore, our method of data curing could be applicable for more effective screening of global genetic variants related to disease onset, progression, and remission. …”
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    A novel knowledge-derived data potentizing method revealed unique liver cancer-associated genetic variants
  18. 196938
    “…OBJECTIVES: Among Cameroonian ADLHIV receiving ART, we shall evaluate the rate of immunovirologic failure, acquired HIVDR-associated mutations, HIV-1 subtype distribution, genetic variability in circulating (plasma) versus archived (cellular) viral strains, and HIVDR early warning indicators (EWIs) at different time-points. …”
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    Evaluation of treatment response, drug resistance and HIV-1 variability among adolescents on first- and second-line antiretroviral therapy: a study protocol for a prospective observational study in the centre region of Cameroon (EDCTP READY-study)
  19. 196939
    “….*165A > G, was detected in 42 alleles, and the most commonly detected missense variant, c.1204C > T (p.Arg402Trp), was identified in 29 mutated alleles in 15/41 (34.2%) of patients. Our findings suggest that GA1 is not uncommon organic acidemia disease in Egypt; therefore, there is a need for supporting neonatal screening programs in Egypt. …”
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    Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
  20. 196940
    “…Genotyping of CRISPR/Cas9 T0 transgenic lines detected a variety of mutations including large and small DNA deletions, insertions and inversions in the GmFAD2 genes. …”
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    Demonstration of highly efficient dual gRNA CRISPR/Cas9 editing of the homeologous GmFAD2–1A and GmFAD2–1B genes to yield a high oleic, low linoleic and α-linolenic acid phenotype in soybean
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