The first part of this unit compares general and locus-specific mutation databases. The second section deals with submitting data. The third part provides guidance for accessing mutation data. The final section offers advice on database construction.
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| http://dx.doi.org/10.1002/0471142905.hg0711s44 | DOI Listing |
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Construction and validation of prognosis and treatment outcome models based on plasma membrane tension characteristics in bladder cancer.
PeerJ
January 2025
Department of Urology, First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Background: Plasma membrane tension-related genes (MTRGs) are known to play a crucial role in tumor progression by influencing cell migration and adhesion. However, their specific mechanisms in bladder cancer (BLCA) remain unclear.
Methods: Transcriptomic, clinical and mutation data from BLCA patients were collected from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases.
A novel mitochondrial-related risk model for predicting prognosis and immune checkpoint blockade therapy response in uterine corpus endometrial carcinoma.
Sci Rep
January 2025
Department of Breast Surgery, Cancer Hospital of Shantou University Medical College, No. 7 Raoping Road, Shantou, 515041, Guangdong, China.
Uterine Corpus Endometrial Carcinoma (UCEC) represents a common malignant neoplasm in women, with its prognosis being intricately associated with available therapeutic interventions. In the past few decades, there has been a burgeoning interest in the role of mitochondria within the context of UCEC. Nevertheless, the development and application of prognostic models predicated on mitochondrial-related genes (MRGs) in UCEC remains in the exploratory stages.
View Article and Find Full Text PDFAlectinib treatment for 2 non-small cell lung carcinoma patients carrying different novel fusions.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Pathology, Second Xiangya Hospital, Central South University, Changsha 410011.
The genomic fusions of the anaplastic lymphoma kinase () gene have been widely recognized as effective therapeutic targets for non-small cell lung carcinoma (NSCLC). The Second Xiangya Hospital of Central South University has treated 2 NSCLC patients with 2 distinct novel gene fusions. Case 1 was a 55-year-old male with a solid nodule located in the right hilar lobe on enhanced CT scan.
View Article and Find Full Text PDFAnalysis of initial seizure characteristics in patients with infantile onset genetic epilepsy.
Brain Dev
January 2025
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro, Jongno-Gu, Seoul 03080, Republic of Korea. Electronic address:
Objective: The present study aimed to investigate the initial clinical features of infantile-onset genetic epilepsy and compare initial seizure variables and responses to sodium channel blockers between SCN1A and non-SCN1A group.
Methods: We selected 122 patients, comprising 58 patients with SCN1A mutations and 64 patients with mutations in other than SCN1A, from our institutional database.
Results: Patients identified in the SCN1A group tended to present with fever, prolonged seizure duration, and hemiclonic seizure semiology.
Long noncoding RNA FAM111A-DT promotes aggressiveness of papillary thyroid cancer via activating NF-κB signaling.
J Endocrinol Invest
January 2025
Department of Endocrinology and Diabetes Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Purpose: Long noncoding RNAs (lncRNAs) play crucial regulatory roles in the tumorigenesis and progression of various cancers. However, the functional roles of lncRNAs in papillary thyroid cancer (PTC) remain unclear. In this study, we investigated the functional role of the lncRNA FAM111A-DT in PTC progression and the underlying mechanisms.
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