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  1. 196981
    “…Recombination, point mutations, deletions, and simple sequence repeats were the most frequent genetic mechanisms found in isolates collected from hosts carrying a strain of the same ST and CC across rounds. …”
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    Insights on Population Structure and Within-Host Genetic Changes among Meningococcal Carriage Isolates from U.S. Universities
  2. 196982
    “…No benefit was achieved in MDA-MB-231 xenografts with the addition of cetuximab, likely due to its KRAS-mutated status. CONCLUSIONS: Cetuximab PET can monitor effects of dasatinib on EGFR cellular distribution and potentially inform treatment response in wild-type KRAS TNBC.…”
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    Cetuximab PET delineated changes in cellular distribution of EGFR upon dasatinib treatment in triple negative breast cancer
  3. 196983
    “…BACKGROUND: The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively. …”
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    Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases
  4. 196984
    “…We suggest generating compounds and targeted mutations of the β adrenergic receptor favoring β arrestin binding and scaffold facilitated activation of ERK1/2 may hold potential promise and therapeutic benefit in adjuvantly treating most or all cancers. …”
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    RETRACTED ARTICLE: β adrenergic receptor modulated signaling in glioma models: promoting β adrenergic receptor-β arrestin scaffold-mediated activation of extracellular-regulated kinase 1/2 may prove to be a panacea in the treatment of intracranial and spinal malignancy and extra-neuraxial carcinoma
  5. 196985
    “…Knowing the frequency of thalassemia and the prevalence of responsible mutations is, therefore, an important step in the understanding and control program. …”
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    Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors
  6. 196986
    “…Heterozygosity of TNXB mutations causing haploinsufficiency of TNX, however, have been described in about 5-7% in a patient cohort from the US and has been named CAH-X syndrome, CAH associated with mild hypermobility form of EDS. …”
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    MON-177 CAH-X Syndrome in a German Cohort of Patients with Congenital Adrenal Hyperplasia
  7. 196987
    “…Background: IGSF1 deficiency syndrome, also known as X-linked central hypothyroidism and testicular enlargement (CHTE) syndrome, is caused by mutations in the immunoglobulin superfamily, member 1 gene. …”
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    SAT-057 A Novel IGSF1 Variant in a Boy with Central Hypothyroidism and Epiphyseal Dysplasia
  8. 196988
    por Herrera, Raul A, Jimenez, Camilo
    Publicado 2020
    “…Patients who are at risk of developing pheochromocytomas and paragangliomas due to genetic syndromes or known germline mutations need ongoing clinical follow and biochemical testing for timely case detection. …”
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    SAT-229 Bilateral Pheochromocytoma as Incidental Finding in a Patient with Neurofibromatosis Type 1
  9. 196989
    “…This link between reproduction and metabolism was reinforced with the recent report of loss-of-function mutations in the Delta-like homolog 1 (DLK1) gene in girls with central precocious puberty (CPP) and increased body fat. …”
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    SUN-100 Mice Lacking Paternally Expressed DLK1 Reach Puberty at a Lower Body Weight Than Littermate Controls
  10. 196990
    “…Background: Congenital leptin deficiency (CLD) is a rare autosomal recessive form of monogenic obesity caused by loss-of-function mutations in the leptin gene. Targeted therapy is available in the form of recombinant human leptin (metreleptin). …”
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    OR33-03 Congenital Leptin Deficiency: Clinical Insights from the First Reported US Cases
  11. 196991
    “…However, a lack of thyroid cell-based assays amenable to high-throughput screening has limited progress. We utilised the mutated yellow fluorescent protein (YFP) as a surrogate biosensor of intracellular iodide and screened the Prestwick Chemical Library (1200 drugs; 95% approved) for quenching of YFP fluorescence. …”
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    OR28-03 Drug Repurposing Identifies Inhibitors of the Proteostasis Network to Augment Radioiodine Uptake in Combinatorial Approaches Targeting Thyroid Cancer
  12. 196992
    “…RM-493 (setmelanotide) is a melanocortin-4 receptor agonist that has shown promise in treating humans with Pomc null mutations. In this preclinical study, we investigated the effects of chronic RM-493 treatment using subcutaneously implanted osmotic minipumps in two groups of male mice: Arc-Pomc knockout mice, fed regular chow throughout the study period, and their wildtype counterparts, fed a 45% high-fat diet. …”
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    SAT-299 Chronic Treatment Of Juvenile Hypothalamic Pomc-deficient Mice With RM-493 Prevents The Development Of Obesity
  13. 196993
    “…Ryan DP, Ptacek LJ. Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis. …”
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    SUN-LB88 Thyrotoxic Periodic Paralysis in Hispanic Patients
  14. 196994
    “…While some instances of ACC are associated with hereditary conditions, most cases are sporadic mutations. Case: A 44-year-old male with a past medical history of hypertension, polysubstance use, and anasarca presented with a one-year onset of abdominal swelling. …”
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    MON-LB037 Adrenocortical Carcinoma: A Case Report
  15. 196995
    “…Future studies should use molecular markers, such as BRAF V600E mutations common to papillary and anaplastic thyroid carcinomas, to help differentiate between types of thyroid cancers and avoid delayed treatment options for rapidly metastasizing thyroid tumors.…”
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    MON-444 The Case of a Rare Anaplastic Thyroid Cancer Variant with Rhabdoid Features
  16. 196996
    “…These findings suggest that CNA of both types are frequently found in Hurthle cell tumors, and probability of cancer in nodules with CNA and no other mutations increases with larger nodule size. This may help to refine the pre-operative assessment of cancer probability and risk of more aggressive disease and offer more tailored management to these patients.…”
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    OR21-02 Impact of Nodule Size on the Probability of Hurthle Cell Carcinoma and Other Cancers in Thyroid Nodules with Multiple Chromosomal Copy Number Alterations
  17. 196997
    “…Children exhibit rickets and growth failure, while adults exhibit bone pain, enthesopathy, HTN, and arthritis. Gene mutations involving renal phosphate reabsorption(PHEX, FGF23, SLC34A3) leads to renal phosphate wasting. …”
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    SAT-376 Secondary Hyperparathyroidism, an Untoward Complication of High Dose Phosphate Supplementation in Hereditary Hypophosphatemic Rickets
  18. 196998
    “…Certain autosomal forms of hypoparathyroidism have mutations in the PTH gene and Calcium-Sensing Receptor (CaSR) gene. …”
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    SAT-335 New Onset Adult Idiopathic Primary Hypoparathyroidism Concomitant with Severe Aplastic Anemia
  19. 196999
    “…Introduction: SAMD9 variants are associated with colon, breast and lung tumors. SAMD9 mutations result in adrenal hypoplasia, suggesting its importance in adrenal development. …”
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    SAT-173 SAMD9 (Sterile Alpha Motif Domain-Containing 9) Expression in Adrenocortical Tumors
  20. 197000
    “…Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gsα mutations. The Journal of Clinical Endocrinology & Metabolism, 88(9), 4413-4417. (2) Hannon, T. …”
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    SUN-476 Risk of Thyroid Cancer in McCune-Albright Syndrome
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