Search

Search Constraints

Start Over Filtering by: Keyword MUTATIONS Remove constraint Keyword: MUTATIONS

Search Results

  • A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma
  • The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms
  • Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program
  • The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes
  • The yes-associated protein (YAP) is associated with resistance to anti-GD2 immunotherapy in neuroblastoma through downregulation of ST8SIA1
  • DNA-PK is activated by SIRT2 deacetylation to promote DNA double-strand break repair by non-homologous end joining
  • Pediatric T-cell acute lymphoblastic leukemia blast signature and MRD associated immune environment changes defined by single cell transcriptomics analysis
  • Olutasidenib (FT-2102) induces durable complete remissions in patients with relapsed or refractory IDH1-mutated AML
  • Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3
  • Epistasis reduces fitness costs of influenza A virus escape from stem-binding antibodies
  • Glial profiling of human tauopathy brain demonstrates enrichment of astrocytic transcripts in tau-related frontotemporal degeneration
  • Interaction between genetics and smoking in determining risk of coronary artery diseases
  • cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
  • A human TRPV1 genetic variant within the channel gating domain regulates pain sensitivity in rodents
  • PRC2 disruption in cerebellar progenitors produces cerebellar hypoplasia and aberrant myoid differentiation without blocking medulloblastoma growth
  • Rare coding variants in ten genes confer substantial risk for schizophrenia
  • Ibrutinib Plus Rituximab Versus Placebo Plus Rituximab for Waldenstrom's Macroglobulinemia: Final Analysis From the Randomized Phase III iNNOVATE Study
  • Inhibition of MERTK Promotes Suppression of Tumor Growth in BRAF Mutant and BRAF Wild-Type Melanoma
  • Extracellular arginine is required but the arginine transporter CAT3 (Slc7a3) is dispensable for mouse normal and malignant hematopoiesis
  • Developments in the Treatment of Leber Hereditary Optic Neuropathy
  • Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort
  • The mitochondrial RNA granule modulates manganese-dependent cell toxicity
  • The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
  • Somatostatin receptor 2 is highly sensitive and specific for Epstein-Barr virus-associated nasopharyngeal carcinoma
  • Defining the risk of SARS-CoV-2 variants on immune protection
  • A prospective, comprehensive registry that integrates the molecular analysis of pediatric and adolescent melanocytic lesions
  • Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia
  • Minimum inhibitory concentrations of rifampin and isoniazid among multidrug and isoniazid resistant Mycobacterium tuberculosis in Ethiopia
  • HIV drug resistance in newly diagnosed adults in a rural prefecture of eastern China
  • Regulated spindle orientation buffers tissue growth in the epidermis
  • Genetic profiles of familial late-onset Alzheimer's disease in China: The Shanghai FLOAD study
  • Resolving primary pathomechanisms driving idiopathic-like spinal curvature using a new katnb1 scoliosis model
  • Zebrafish mutants reveal unexpected role of Lrp5 in osteoclast regulation
  • Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease
  • Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells
  • MERTK activation drives osimertinib resistance in EGFR-mutant non small cell lung cancer
  • In-utero exposure to zidovudine-containing antiretroviral therapy and clonal hematopoiesis in HIV-exposed uninfected newborns
  • Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
  • Phosphorylation regulates arginine-rich RNA-binding protein solubility and oligomerization
  • Biodistribution of intravitreal lenadogene nolparvovec gene therapy in nonhuman primates
  • Molecular Characterization and Prospective Evaluation of Pathologic Response and Outcomes with Neoadjuvant Therapy in Metaplastic Triple-Negative Breast Cancer
  • Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome
  • Treatment Outcomes and Safety of Mobocertinib in Platinum-Pretreated Patients With EGFR Exon 20 Insertion-Positive Metastatic Non-Small Cell Lung Cancer A Phase 1/2 Open-label Nonrandomized Clinical Trial
  • Molecular insights into receptor binding of recent emerging SARS-CoV-2 variants
  • Precision medicine treatment in acute myeloid leukemia using prospective genomic profiling: feasibility and preliminary efficacy of the Beat AML Master Trial
  • Structural and functional characterization explains loss of dNTPase activity of the cancer-specific R366C/H mutant SAMHD1 proteins
  • PROMISE: a real-world clinical-genomic database to address knowledge gaps in prostate cancer
  • Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes
  • Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report
  • The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease