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Erdheim-Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances.
Dis Mon
January 2025
Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Vidya Vihar, Raebareli Road, Lucknow-226025, (U.P.), India. Electronic address:
Erdheim-Chester disease (ECD) is an extremely rare non-Langerhans cell disorder that is believed to include both inflammatory and neoplastic characteristics. It is caused due to genetic mutations in proto-oncogenes like BRAF and MEK, while immunological pathways have an essential role in the onset and progression of the disease. Despite its rarity, ECD poses significant diagnostic and therapeutic challenges due to its heterogeneous clinical presentation and limited understanding of its underlying pathophysiology.
View Article and Find Full Text PDFThe Tumour Microenvironment and Epigenetic Regulation in Pathogenic Variant-Associated Breast Cancers.
Cancers (Basel)
November 2024
Department of Anatomical Pathology, Division of Pathology, Singapore General Hospital, Singapore 169856, Singapore.
: pathogenic variant (PV)-associated breast cancers are most commonly seen in hereditary genetic conditions such as the autosomal-dominant Hereditary Breast and Ovarian Cancer (HBOC) syndrome, and rarely in sporadic breast cancer. Such breast cancers tend to exhibit greater aggressiveness and poorer prognoses due to the influence of pathogenic variants (PVs) on the tumour microenvironment. Additionally, while the genetic basis of PV breast cancer is well-studied, the role of epigenetic mediators in the tumourigenesis of these hereditary breast cancers is also worth exploring.
View Article and Find Full Text PDFComparative genomics analysis of the MYB gene family in barley: preliminary insights into evolution and biological function in Blue Qingke.
PeerJ
December 2024
Academy of Agricultural and Forestry Sciences, Qinghai University, Qinghai, China.
Background: The Myeloblastosis related (MYB) family is one of the most widely distributed transcription factor families in plants and plays a significant role in plant growth and development, hormone signal transduction, and stress response. There are many reports on MYB family species, but the research on Qingke is still limited.
Methods: This study used comparative genomics methods to analyze gene and protein structure, protein physicochemical properties, chromosome localization, and evolution.
Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer.
Biomedicines
October 2024
Endocrinology Research Centre, Dmitry Ulyanov Street, 11, 117292 Moscow, Russia.
Background/objectives: Cervical cancer (CC) remains a significant global health challenge, characterized by genetic heterogeneity and a complex molecular landscape, both of which contribute to its pathogenesis. This study aimed to investigate germline variants in proto-oncogenes and tumor suppressor genes in cervical cancer patients, with the objective of clarifying their potential role in disease development.
Methods: We utilized a custom next-generation sequencing (NGS) panel targeting 48 genes implicated in oncogenesis.
Fibroblast Growth Factor Receptor (FGFR) Alterations in HPV Oropharyngeal Cancers.
J Med Virol
November 2024
Department of Medical Oncology, Ohio State University, James Cancer Center, Columbus, Ohio, USA.
HPV viral E6 and E7 onco-proteins play a well-known role in carcinogenesis. Host genomic alterations also play a key role in the development of HPV-related oropharyngeal cancer and have been under-recognized. We describe a case series of 6 metastatic/locoregionally recurrent HPVOPSCC patients with FGFR alterations.
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