The genome of the yeast Candida albicans harbours many genomic short sequence repeats (SSRs). These are stable upon transition of colonization to infection in immune-compromised patients. We show here that in non-neutropenic patients this transition may coincide with variation in several of the SSRs. This may have implications for stage-specific expression of C. albicans pathogenicity factors.
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http://dx.doi.org/10.1002/yea.1462 | DOI Listing |
Sci Data
January 2025
Department of Crop Science, Chungnam National University, Daejeon, 34134, Korea.
Salvia sclarea is a medicinal herb from the Lamiaceae family, valued for its essential oil which contains sclareol, linalool, linalyl acetate, and other compounds. Despite its extensive use, the genetic mechanisms of S. sclarea are not well understood.
View Article and Find Full Text PDFMob DNA
January 2025
Department of Biology, La Sierra University, Riverside, CA, USA.
Background: Messenger RNA 3' untranslated regions (3'UTRs) control many aspects of gene expression and determine where the transcript will terminate. The polyadenylation signal (PAS) AAUAAA (AATAAA in DNA) is a key regulator of transcript termination and this hexamer, or a similar sequence, is very frequently found within 30 bp of 3'UTR ends. Short interspersed element (SINE) retrotransposons are found throughout genomes in high copy numbers.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFClin Exp Med
January 2025
Liver & Peritonectomy Unit, Department of Surgery, St George Hospital, Pitney Building, Short Street, Kogarah, NSW, 2217, Australia.
Purpose: This study seeks to resolve a fundamental question in oncology: Why do appendiceal and colorectal adenocarcinomas exhibit distinct liver metastasis rates? Building on our prior hypothesis published in the British Journal of Surgery, our institution has investigated potential DNA mutations within the carcinoembryonic antigen-related cell adhesion molecule (CEACAM5) gene's Pro-Glu-Leu-Pro-Lys (PELPK) motif to evaluate its role as a biomarker for liver metastasis risk.
Methods: Partnering with the Australian Genome Research Facility, the PELPK motif of CEACAM5 was analysed in colorectal and appendiceal adenocarcinomas to detect DNA mutations associated with liver metastasis. Additionally, our institution performed the COPPER trial to assess carcinoembryonic antigen (CEA) levels in portal versus peripheral blood in patients with appendiceal adenocarcinoma and a systematic review and meta-analysis of 136 studies on CEA's prognostic significance among patients with colorectal and appendiceal adenocarcinoma.
Acta Pharmacol Sin
January 2025
Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, The Fourth Affiliated Hospital of Soochow University, Jiangsu Province Engineering Research Center of Precision Diagnostics and Therapeutics Development, Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Suzhou Key Laboratory of Drug Research for Prevention and Treatment of Hyperlipidemic Diseases, Soochow University, Suzhou, 215123, China.
Gastric cancer is a malignant gastrointestinal disease characterized by high morbidity and mortality rates worldwide. The occurrence and progression of gastric cancer are influenced by various factors, including the abnormal alternative splicing of key genes. Recently, RBM39 has emerged as a tumor biomarker that regulates alternative splicing in several types of cancer.
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