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  1. 197601
    “…Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of this, caused by heterozygous activating mutations in the CASR gene. Some individuals fail to meet treatment goals despite standard therapy. …”
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    A Novel Variant in the CASR Gene c.368T>Cp.(Leu123Ser) in a Case of Hypocalcemia Refractory to Standard Medical Therapy
  2. 197602
    “…Full infectious disease evaluation and molecular testing for BCR-ABL and JAK2 mutations were negative. Thus, leukocytosis was determined to be reactive in the setting of malignancy. …”
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    Leukocytosis and PTHrP-Mediated Hypercalcemia: Ominous Signs in an Indolent Thyroid Nodule
  3. 197603
    “…Introduction: Alpelisib (PIQRAY) is a Phosphatidylinositol 3-Kinase Inhibitor (PIP-3K) recently approved by the united states food and drug administration (FDA) for hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-mutated, advanced, or metastatic breast cancer in post-menopausal women or men with an adjuvant to Fulvestrant. …”
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    Alpelisib Induced Hyperglycemic Ketoacidosis; Broadening the Adverse Effect Profile of an Emerging Cancer Therapy
  4. 197604
    “…Additionally, we divided the PL group according to the presence of a pathogenic variant in the lamin A gene (n=8) versus those without mutations in this gene (n=9), but there were no notable differences among these subgroups with respect to NEFA levels at baseline or during the meal. …”
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    Abnormal Non Esterified Fatty Acid Suppression After a Mixed Meal Test in Patients With Partial Lipodystrophy
  5. 197605
    “…Humans and animals with Kiss1 mutations fail to reach puberty, demonstrating kisspeptin’s importance in puberty onset. …”
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    Dissecting the Involvement of Arcuate Nucleus Kisspeptin Neurons in Puberty Onset and LH Secretion
  6. 197606
    “…Previous studies reported that homozygous or compound heterozygous mutations of CCDC141 cause Kallmann syndrome and IHH, due to impaired GnRH neuronal migration. …”
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    Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty
  7. 197607
    “…However, the current developed vaccines or drugs may be not effective in preventing the pandemic of COVID-19 due to the mutations of coronavirus and the severe side effects of the newly developed vaccines. …”
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    Corilagin prevents SARS-CoV-2 infection by targeting RBD-ACE2 binding
  8. 197608
    “…All responders were found to have favorable p53 biomarker profiles defined by less than 20% p53 positive tumor cells by immunohistochemistry (IHC), wild type p53 gene sequence or p53 deletions, truncations, or frame-shift mutations without functional p53 tetramerization domains. …”
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    Analysis of Adenoviral p53 Gene Therapy Clinical Trials in Recurrent Head and Neck Squamous Cell Carcinoma
  9. 197609
    “…Activating mutations of MYD88 (MYD88(L265P) being the far most frequent) are found in most cases of Waldenström macroglobulinemia (WM) as well as in various aggressive B-cell lymphoma entities with features of plasma cell (PC) differentiation, such as activated B-cell type diffuse large B-cell lymphoma (DLBCL). …”
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    Continuous MYD88 Activation Is Associated With Expansion and Then Transformation of IgM Differentiating Plasma Cells
  10. 197610
    “…SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 (SMARCC2) is mutated in and its expression is low in multiple types of cancer. …”
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    SMARCC2 combined with c-Myc inhibits the migration and invasion of glioma cells via modulation of the Wnt/β-catenin signaling pathway
  11. 197611
    “…Briefly, the number of PD-1(+) TILs was lower and the number of CD33(+) MDSCs was higher in patients with mutated TP53 compared to those with wild-type TP53. …”
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    Tumor Immune Microenvironment Components and Checkpoint Molecules in Anaplastic Variant of Diffuse Large B-Cell Lymphoma
  12. 197612
    “…Four women acquired HIV (incidence 1.0/100 person-years), with low or undetectable TFV-DP levels at or prior to seroconversion, and none of whom had tenofovir or emtricitabine resistance mutations. The study had limited power to detect a modest effect of drug level feedback on adherence, and there was limited awareness of PrEP at the time the study was conducted. …”
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    PrEP uptake, persistence, adherence, and effect of retrospective drug level feedback on PrEP adherence among young women in southern Africa: Results from HPTN 082, a randomized controlled trial
  13. 197613
    “…Reductions in circulating levels of ANGPTL3 either by homologous loss-of-function mutations in humans or by pharmacological inhibition in rodents are associated with reductions in triglyceride (and other atherogenic lipid) levels and protect from atherosclerosis, making it an attractive target for patients with FPLD and metabolic dyslipidemia. …”
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    Inhibition of Angiopoietin-Like 3 (ANGPTL3) Reduces Adipose Tissue Insulin Resistance in Patients With Familial Partial Lipodystrophy
  14. 197614
    “…It is inherited as autosomal or X-linked dominant or recessive. Gene mutations associated are ANOS-1, FGFR, PROK-2. It is rare in females. …”
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    Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea
  15. 197615
    “…Background: Sporadic congenital non-autoimmune hyperthyroidism (SCNAH) causes permanent hyperthyroidism secondary to activating mutations in the TSHR gene. SCNAH usually presents during infancy and can be difficult to treat with antithyroid drugs or subtotal thyroidectomy.(1) When adequate therapy is delayed, irreversible sequela such as craniosynostosis, growth failure, and cognitive delays may develop. …”
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    A Case of Definitive Therapy in Persistent Congenital Hyperthyroidism Secondary to an Activating Variant of the TSHR Gene
  16. 197616
    “…Since the α subunit level was normal, the patient obtained genetic testing for mutations in the thyroid hormone receptor β gene seen in 85% of RTH cases (1). …”
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    ThyrotropinomA: Diagnosing a Rare Cause of Hyperthyroidism
  17. 197617
    “…Alternating hemiplegia of childhood is a rare neurodevelopmental disorder caused by ATP1A3 mutations. Some evidence for disease progression exists, but there are few systematic analyses. …”
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    Alternating hemiplegia of childhood: evolution over time and mouse model corroboration
  18. 197618
    “…Single nucleotide variation in the gene signature co-occurred with multiple oncogenic mutations and is associated with the progression of onco-immune-related diseases. …”
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    Pan-Cancer Analysis of Immune Complement Signature C3/C5/C3AR1/C5AR1 in Association with Tumor Immune Evasion and Therapy Resistance
  19. 197619
    “…EVI1 (high) was predominantly found in acute megakaryoblastic leukemia (FAB M7), MLL rearrangements, and unfavorable cytogenetic aberrance, whereas it was mutually exclusive with t (8; 21), inv (16)/t (16; 16), CEBPA, NPM1, or C-KIT mutations. In the univariate Cox regression analysis, EVI1 (high) had a significantly adverse 5-year event-free survival (EFS) and overall survival (OS) [hazard ratio (HR) = 1.821 and 2.401, p = 0.036 and 0.005, respectively]. …”
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    High EVI1 Expression Predicts Adverse Outcomes in Children With De Novo Acute Myeloid Leukemia
  20. 197620
    “…Radiogenomics provides clinically useful prognostic predictions by linking molecular characteristics such as gene mutations and gene expression patterns of malignant tumors with medical images and could provide more opportunities in the management of patients with ESCA. …”
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    Impact of radiogenomics in esophageal cancer on clinical outcomes: A pilot study
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