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Advanced phasing techniques in congenital skin diseases.
J Dermatol
December 2024
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Phasing, the process of determining which alleles at different loci on homologous chromosomes belong together on the same chromosome, is crucial in the diagnosis and management of autosomal recessive diseases. Advances in long-read sequencing technologies have significantly enhanced our ability to accurately determine haplotypes. This review discusses the application of low-coverage long-read sequencing, nanopore Cas9-guided long-read sequencing, and adaptive sampling in phasing, highlighting their utility in complex clinical scenarios.
View Article and Find Full Text PDFExploring the effect and mechanism of action of Jinlida granules (JLD) in the treatment of diabetes-associated cognitive impairment based on network pharmacology with experimental validation.
Ann Med
December 2025
Department of Hebei Provincial Key Laboratory of Basic Medicine for Diabetes, The Shijiazhuang Second Hospital, Shijiazhuang, China.
Objectives: To explore the effect and the probable mechanisms of JLD in the treatment of type 2 diabetes mellitus (T2DM) - associated cognitive impairment (TDACI).
Methods: The effect of JLD in combating TDACI was assessed in T2DM model mice by conducting Morris water maze (MWM) behaviour testing. Active components and their putative targets, as well as TDACI-related targets, were collected from public databases.
Interlaboratory Measurement of Adeno-Associated Virus: Comparative Quantification of Full and Empty Capsids.
Hum Gene Ther
December 2024
Prevail Therapeutics, New York, New York, USA.
Recombinant adeno-associated virus (AAV) is one of the main viral vector-based gene therapy platforms. AAV is a virus consisting of a ≈25 nm diameter capsid with a ≈4.7 kb cargo capacity.
View Article and Find Full Text PDFTargeting liposarcoma: unveiling molecular pathways and therapeutic opportunities.
Front Oncol
December 2024
Department of Hepatobiliary and Pancreatic Surgery & Retroperitoneal Tumor Surgery, The Affiliated Hospital of Qingdao University, Qingdao, China.
In recent years, an increasing number of studies have utilized molecular biology techniques to reveal important molecular heterogeneity among different subtypes of liposarcoma. Each subtype exhibits distinct genetic patterns and molecular pathways, which may serve as important targets for molecular therapy. In the present review, we focus on the molecular characteristics, molecular diagnostics, driver genes, and molecular mechanisms of liposarcoma.
View Article and Find Full Text PDFLong-term follow-up of combination therapy with pembrolizumab and anlotinib in thoracic SMARCA4-deficient undifferentiated tumor: a case report and molecular features.
Front Oncol
December 2024
Cancer Center, Department of Pathology, Zhejiang Provincial People's Hospital(Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, China.
Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs), recently recognized as a rare malignancy described in the 5th edition of the World Health Organization Classification of Tumors, are characterized by an inactivating mutation in SMARCA4, most commonly found in the mediastinum of male smokers. Despite the aggressive nature and poor prognosis associated with these tumors, which have a median survival time of approximately 4-7 months, no standardized treatment guidelines are currently established. There are currently no reported cases of extended progression-free survival (PFS) in SMARCA4-UT patients treated with surgery and immunotherapy.
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