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Steatotic liver disease diagnosed in a 24-year-old woman with Rett syndrome: a case report.
J Int Med Res
January 2025
Divisions of Gastroenterology, University of Alberta, Edmonton, Alberta, Canada.
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the gene, potentially disrupting lipid metabolism and leading to dyslipidemia (DLD) and steatotic liver disease (SLD). Although SLD has been described in RTT mouse models, it remains undocumented in humans. We herein describe a 24-year-old woman with RTT who was evaluated for abnormal liver enzymes.
View Article and Find Full Text PDFThe effect of LARP7 on gene expression during osteogenesis.
Mol Biol Rep
January 2025
Institute of Health Sciences, Department of Medical and Surgical Research, Hacettepe University, Ankara, Turkey.
Background: La-related protein 7 (LARP7) is a key regulator of RNA metabolism and is thought to play a role in various cellular processes. LARP7 gene autosomal recessive mutations are the cause of Alazami syndrome, which presents with skeletal abnormalities, intellectual disabilities, and facial dysmorphisms. This study aimed to determine the role of LARP7 in modulating gene expression dynamics during osteogenesis.
View Article and Find Full Text PDFImpact of co-mutations and transcriptional signatures in non-small cell lung cancer patients treated with adagrasib in the KRYSTAL-1 trial.
Clin Cancer Res
January 2025
The University of Texas MD Anderson Cancer Center, Houston, TX, United States.
Background: KRAS inhibitors are revolutionizing the treatment of NSCLC, but clinico-genomic determinants of treatment efficacy warrant continued exploration.
Methods: Patients with advanced KRASG12C-mutant NSCLC treated with adagrasib (KRYSTAL-1-NCT03785249) were included in the analysis. Pre-treatment NGS data were collected per protocol.
Genomic Profiling of Biliary Tract Cancers: Comprehensive Assessment of Anatomic and Geographic Heterogeneity, Co-Alterations and Outcomes.
J Surg Oncol
January 2025
Department of Surgery, Division of Surgical Oncology, The Ohio State University Wexner Medical Center and James Comprehensive Cancer Center, Columbus, Ohio, USA.
Background: Biliary tract cancers (BTCs) represent distinct biological and genomic entities. Anatomic and geographic heterogeneity in genomic profiling of BTC subtypes, genomic co-alterations, and their impact on long-term outcomes are not well defined.
Methods: Genomic data to characterize alterations among patients with BTCs were derived from the AACR GENIE registry (v15.
Retrospective analysis of clinical and molecular characteristics as prognostic factors in adult T-cell lymphoblastic lymphoma.
Am J Cancer Res
December 2024
Department of Hematology, Cancer Hospital Affiliated to Shanxi Medical University/Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences Taiyuan 030013, Shanxi, China.
Objective: To analyze the clinical characteristics and molecular biomarkers of adult T-cell lymphoblastic lymphoma (T-LBL) to identify prognostic factors, and to evaluate the efficacy of different chemotherapy regimens, providing a basis for optimizing treatment strategies for T-LBL.
Methods: A total of 89 Patients aged 18-72 years with T-LBL, confirmed via histopathological examination of lymph nodes, extranodal tissues, or bone marrow, were retrospectively included. Clinical data, treatment details, and mutational profiles were collected.
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