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  1. 197561
    “…RESULTS: We found that JAK2(V617F)-mutated cells are hypersensitive to the SMAC mimetic LCL-161 in the absence of exogenous TNFα. …”
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    The SMAC mimetic LCL-161 selectively targets JAK2(V617F) mutant cells
  2. 197562
    “…BACKGROUND: Huntington’s disease (HD) is caused by the expression of a mutated variant of Huntingtin (mHtt), which results in the complex pathology characterized by a defective function of the nervous system and altered inflammatory responses. …”
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    Mutant Huntingtin affects toll-like receptor 4 intracellular trafficking and cytokine production in mast cells
  3. 197563
    “…All of the 11 ST131 isolates belonged to serotype O25b:H4 and clade B and showed fimH22 allele or mutational derivatives. The 11 porcine isolates possessed virulence traits that classified the isolates as avian pathogenic, uropathogenic, and extraintestinal pathogenic E. coli–like (APEC-, UPEC-, and ExPEC-like) and constituted virotype D. …”
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    Whole Genome Sequencing and Characteristics of mcr-1–Harboring Plasmids of Porcine Escherichia coli Isolates Belonging to the High-Risk Clone O25b:H4-ST131 Clade B
  4. 197564
    “…Compared with the long breeding cycle and high cost of traditional genetic breeding of pigs, clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) endonuclease 9 system (CRISPR/Cas9)-mediated gene editing can cost-effectively implement targeted mutations in animal genomes, thereby providing a powerful tool for rapid improvement of the economic traits of Bama minipigs. …”
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    CRISPR/Cas9-Mediated Biallelic Knockout of IRX3 Reduces the Production and Survival of Somatic Cell-Cloned Bama Minipigs
  5. 197565
    por Baghel, Annavi, Maier, Joshua D
    Publicado 2020
    “…The decision was made not to treat the patient with anti-thyroid medications and to perform a confirmatory genetic testing to test for mutations in the ALB (albumin) gene. DISCUSSION The free T4 assay used by our institution is performed on the Siemens Dimension Vista platform using a two-step chemiluminescent immunoassay. …”
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    MON-481 Remarkable Euthyroid Hyperthyroxinemia Mistaken for Thyrotoxicosis
  6. 197566
    “…It is caused by several mutations in the CYP21A2 gene. These defects impaired cortisol synthesis leading to an ACTH increase resulting in androgen excess, either with salt-wasting or simple virilizing forms. …”
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    SUN-071 Prenatal and Post-Natal Influence of Androgens in the Psychosexual Development in Individuals with 21-hydroxylase Congenital Adrenal Hyperplasia
  7. 197567
    “…Vitamin D levels are affected by age, pregnancy, liver disease, obesity, and DBP mutations. We report a patient with treatment-resistant vitamin D deficiency suggestive of a DBP with abnormal vitamin D binding. …”
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    MON-372 Treatment-Resistant Vitamin D Deficiency: Is It a Vitamin D Binding Protein Issue?
  8. 197568
    “…Materials and methods: The tumor tissue of 218 EC patients included in the study (mean age 60.6 years) was assigned according to the data of genetic and immunohistochemical analysis to the types of carcinomas with gene POLE mutations, deficiency of mismatch repair proteins (MMR-D), expression (positive or diffuse) of p53 oncoprotein and to the type without characteristic molecular profile, WCMP. …”
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    SUN-133 Intratumoral Expression of Steroid Receptors, CD68+ Macrophages and Mdm2 in Different Molecular-Biological Types of Endometrial Cancer
  9. 197569
    “…Background: MCT8 deficiency is a severe disorder caused by mutations in the thyroid hormone transporter MCT8. …”
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    OR01-05 Long-Term Efficacy of T3 Analogue Triac in MCT8 Deficiency
  10. 197570
    “…Congenital adrenal hyperplasia (CAH), an autosomal recessive disease, is characterized by impairment of metabolic cortisol synthesis, with or without insufficient aldosterone production. It is caused by mutations in the CYP21A2 gene in approximately 90% of all cases, leading to 21-hydroxylase deficiency and androgen precursors elevation. …”
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    SAT-098 The Impact of 17-OHP Cutoffs Determination in a Public Newborn Screening Program for Congenital Adrenal Hyperplasia in Southern Brazil: A Three Years’ Experience
  11. 197571
    “…Using luciferase to image primary tumors and metastases containing lethal ERαD538G and ERαY537S mutations seen in metastatic breast cancer, oral and injected ErSO exhibited unprecedented antitumor activity. …”
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    OR05-05 Lethal ERα-Dependent Hyperactivation of the Unfolded Protein Response Induces Complete Regression Without Recurrence of Primary and Metastatic Breast Cancer
  12. 197572
    “…Background: Growth hormone deficiency (GHD) occurs in ~ 1/8000 individuals, and 14% of the patients have mutations in five major candidate genes. However, over 30 genes have been implicated in hypopituitarism. …”
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    SAT-LB58 Molecular Investigation of Recessive Inheritance by Exome Sequencing of Patients With Congenital Hypopituitarism
  13. 197573
    “…The diagnosis of CHI was either clinical (n=61) or by gold standard criteria: hypoketotic hypoglycaemia plus disease-causing genetic mutations and/or diffuse, focal or atypical pancreatic histopathology (n=57). …”
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    MON-111 Plasma Insulin Measured with a Sensitive Immunoassay May Establish the Diagnosis of Congenital Hyperinsulinism Without Further Testing
  14. 197574
    “…Congenital hyperinsulinism (CHI) results from mutations within the insulin secretion pathway and is characterized by excessive and/or inappropriate insulin secretion by pancreatic islet β-cells. …”
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    MON-089 Discovery and Identification of Late Stage Selective Nonpeptide Somatostatin Subtype 5 (sst5) Agonists for the Treatment of Hyperinsulinemic Hypoglycemia
  15. 197575
    “…This antagonist is a PEGylated form of a mutated GH (B2036) that binds and blocks the receptor. …”
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    SAT-283 Generation of a Long-Acting Human Growth Hormone Receptor Antagonist by Site-Specific Pegylation
  16. 197576
    “…In rare cases, DM can be the result of monogenic mutations or deletions. We present a case of a young woman with early-onset antibody-negative DM thought to be related to gene deletions resulting from her underlying ring chromosome 13 abnormality. …”
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    SUN-679 Early Onset Diabetes Mellitus in a Young Woman with Ring Chromosome 13 Syndrome
  17. 197577
    “…Background Genetic mutations and histological appearances suggest that APCCs are precursors to some aldosterone producing adenomas (APA). …”
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    OR09-05 Expression of SLC35F1 in the Plasma Membrane of Cells of Aldosterone Producing Cell Clusters (APCCs) and Its Possible Role in Aldosterone Synthesis
  18. 197578
    “…CAH results from inactivating mutations in steroid synthesis pathways, resulting in lack of cortisol and aldosterone production. …”
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    MON-176 Discovery and Identification of Late Stage Selective Nonpeptide ACTH Antagonists for the Treatment of Cushing’s Disease, Ectopic ACTH Secreting Tumors, and Congenital Adrenal Hyperplasia
  19. 197579
    “…The American isolates of Zika virus appear to have acquired mutations that increase their efficacy.…”
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    Maternal Zika Virus (ZIKV) Infection following Vaginal Inoculation with ZIKV-Infected Semen in Timed-Pregnant Olive Baboons
  20. 197580
    “…BACKGROUND: The Src homology region 2 domain-containing phosphatase-1 (SHP-1) is known to exert negative regulatory effects on immune cell signaling. Mice with mutations in the Shp1 gene develop inflammatory skin disease and autoimmunity, but no arthritis. …”
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    Regulation of autoimmune arthritis by the SHP-1 tyrosine phosphatase
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