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  1. 197161
    “…Consistent with this immunoglobulin class bias, ovarian teratoma samples showed intratumoral production of both NR1-IgG and NR1-IgA and, by single cell RNA sequencing, contained expanded highly-mutated IgA clones with an ovarian teratoma-restricted B cell population. …”
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    Cervical lymph nodes and ovarian teratomas as germinal centres in NMDA receptor-antibody encephalitis
  2. 197162
    “…Current target structures almost all belong to the class of oncogenic proteins caused by tumor-specific genetic alterations, such as activating mutations, gene fusions, or gene amplifications, often referred to as cancer “driver alterations” or just “drivers.” …”
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    White Paper: Mimetics of Class 2 Tumor Suppressor Proteins as Novel Drug Candidates for Personalized Cancer Therapy
  3. 197163
    por Michael, Joy Sarojini
    Publicado 2022
    “…Further studies on identifying the virulence factors and drug resistance mutations are needed to further understand the molecular mechanisms of disease pathogenesis.…”
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    P237 Molecular epidemiology of Cryptococcosis—over 14 years using Whole Genome Sequencing and Multi-Locus Sequence Typing
  4. 197164
    por Ruden, Douglas M.
    Publicado 2022
    “…Ruden’s laboratory and titled, “Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift.” The five most influential authors who published in the journal in the past 10 years based on Scopus citations of a particular paper are Dr. …”
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    10 Years of Toxicogenomics section in Frontiers in Genetics: Past discoveries and Future Perspectives
  5. 197165
    “…Two tumors (1 SCNEC, 1 LCNEC) were CDH1 mutated. By immunohistochemistry, 100% SCNEC (6/6) and ANEC (2/2) and 50% (2/4) LCNEC (83% NEC) showed RB loss, compared to 0% (0/8) grade 3 neuroendocrine tumors (NET) (p < 0.001) and 38% (36/95) grade 3 invasive ductal carcinomas of no special type (IDC-NST) (p = 0.004). …”
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    Genetic and immunohistochemical profiling of small cell and large cell neuroendocrine carcinomas of the breast
  6. 197166
    “…However, SARS-CoV-2 viruses can mutate rapidly during replication and the resistant variants of neutralizing antibodies easily survive and evade the immune response, especially in the face of such focused antibody responses in humans. …”
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    Discovery and characterization of SARS-CoV-2 reactive and neutralizing antibodies from humanized CAMouse(HG) mice through rapid hybridoma screening and high-throughput single-cell V(D)J sequencing
  7. 197167
    “…Therefore, the Department of Virology (NIH, Pakistan) genotyped 2,467 randomly selected individuals between November 2021 and February 2022 using the SNPsig(®) SARS-CoV-2 (EscapePLEX) kit (PrimerDesign, UK). P681R and K417N mutations were used to distinguish delta and omicron. …”
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    Breakthrough cases of Omicron and Delta variants of SARS-CoV-2 during the fifth wave in Pakistan
  8. 197168
    “…INTRODUCTION: Uveal melanoma (UM) is associated with poor outcomes in the metastatic setting and harbors activating mutations resulting in upregulation of MAPK signaling in almost all cases. …”
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    Intermittent MEK inhibition for the treatment of metastatic uveal melanoma
  9. 197169
    “…Since IL-2 co-treatment did not show a therapeutic benefit but strongly induced Treg, we investigated here a DB-based immunotherapy combined with the immunocytokine FAP-IL-2v, which comprises a fibroblast activation protein α (FAP)-specific Ab linked to a mutated IL-2 variant (IL-2v) with abolished binding to the high-affinity IL-2 receptor, thus stimulating NK cells without induction of Treg. …”
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    The Immunocytokine FAP-IL-2v Enhances Anti-Neuroblastoma Efficacy of the Anti-GD(2) Antibody Dinutuximab Beta
  10. 197170
    “…Rationally designed mutations in the CH1 domain of the IgG4 mAb caused a 3- to 70-fold K(D) reduction against PLBL2 by surface plasmon resonance (SPR). …”
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    Insights into ultra-low affinity lipase-antibody noncovalent complex binding mechanisms
  11. 197171
    “…However, the majority of Patients with PHP1B do not have mutations within the GNAS but they have methylation and imprinting defects that result in absence of maternal Gsa. …”
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    ODP117 Pseudohypoparathyroidism Type IB: A Rare Cause of Hypocalcemia
  12. 197172
    “…Additionally, CDC73 mutations are present in nearly all cases of PC but not in APA. …”
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    PSAT198 Atypical Parathyroid Adenoma is an Unusual Cause of Primary Hyperparathyroidism
  13. 197173
    “…The NRAS, BRAF and JAK3 oncogene mutations have been implicated in the pathogenesis but the exact cause is unknown, resulting in the absence of any guideline directed therapy. …”
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    PSAT287 Metastatic Thyroid Carcinoma from an Old Teratoma
  14. 197174
    por Currais, Carolina, Gomez, Patricia
    Publicado 2022
    “…The majority of cases are sporadic, but a number of familial cases have been described. Mutations in genes such as HESX1, SOX2 and SOX3 have been identified. …”
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    ODP388 Hypernatremia in a Male Adolescent Leading to Diagnosis of Septo-optic Dysplasia
  15. 197175
    por Gross, Joshua
    Publicado 2022
    “…For example, animal models bearing G protein- or βarr-biasing GHSR1a mutations may express differences in orexigenic and glucoregulatory effects that are signaling pathway-dependent, and our group has demonstrated that GHSR1a antagonism blunts cocaine-induced neuroadaptive behaviors via a mechanism requiring βarr2 in dopaminergic neurons (Toth et al., 2016, Synapse). …”
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    OR22-2 Ghrelin Receptor (GHSR1a) Functional Selectivity As A Novel Pharmacotherapeutic Strategy To Normalize Dysfunctional Metabolic Homeostasis
  16. 197176
    “…Current molecular diagnostic testing, based on the identification of tumor gene mutations in FNA samples usually reduces the risk of cancer rather than guarantee the absence of cancer which leads to 70% of unnecessary thyroidectomies. …”
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    OR09-1 Decoding Cancer Immunoediting of Tumor Microenvironment Provides Immunogenomic Marker for Thyroid Cancer Screening
  17. 197177
    por Akcan, Tugce, Shariff, Julia Rose R
    Publicado 2022
    “…The cause of this hyperinsulinemic hypoglycemia is unknown, but it is believed to be caused by chromosomal mutations at 11p15.5 and genes encoding beta-cell ATP-sensitive potassium channels. …”
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    LBSUN255 Recurrent Hypoglycemia In A Patient With Beckwith-Wiedemann Syndrome Secondary To Insulinoma
  18. 197178
    “…For each patient, NEN specific somatic mutations (single nucleotide variants and insertions/deletions) were identified through whole exome sequencing of paired tumor-leucocyte DNA and were used to design a bespoke multi-variant Ampliseq™ HD ctDNA panel (5-20 variants per patient) for targeted next generation sequencing. …”
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    RF19 | PSUN353 Liquid Biopsies - Detecting and Tracking Circulating Cell Free Tumor Derived DNA in Patients with Neuroendocrine Neoplasms
  19. 197179
    “…Nevertheless, there are still shortcomings in the relationship between these polymorphisms and the reproductive activity, and if these mutations could influence the effectiveness of the ram introduction in the flock, based on different time periods, succeeding the seasonal anestrous. …”
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    Reproductive Resumption in Winter and Spring Related to MTNR1A Gene Polymorphisms in Sarda Sheep
  20. 197180
    “…We recommend that colchicine should be considered in all PFAPA patients to see the response of the patient, irrespective of the MEFV gene mutations.…”
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    Does having MEFV gene sequence variants affect the clinical course and colchicine response in children with PFAPA syndrome?
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