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Strain Expressed Constitutively High Levels of Sterol 14-α Demethylase mRNA, While Transporter and mRNA Expression Was Induced After Addition of Short Chain Azoles.
J Fungi (Basel)
October 2024
Department of Dermatology, Jena University Hospital, Friedrich Schiller University, D-07747 Jena, Germany.
is an emerging pathogen causing recalcitrant skin infections and exhibiting multiple resistances to azoles and allylamines. Squalene epoxidase mutants often show association with azole resistance. RT-PCR gene expression analysis helps to elucidate the connection between ergosterol biosynthesis regulation and efflux control through the activation of multidrug resistance (MDR) and major facilitator superfamily (MFS1) transporters as well as heat shock proteins (HSP).
View Article and Find Full Text PDFWhole-Genome Sequencing of Newly Emerged Fungal Pathogen and Its Azole Resistance Gene Prediction.
Genet Test Mol Biomarkers
October 2024
Department of Dermatology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, People's Republic of China.
Article Synopsis
- A new species in the complex has been identified, showing significant resistance to azole drugs and high mortality in infected individuals, highlighting the need for a detailed understanding of its genome.
- This study utilized whole-genome sequencing of a strain called PWCAL1 to identify azole resistance genes and analyze its pathogenicity and resistance mechanisms through various databases.
- The findings revealed that the PWCAL1 genome is 31.3 million base pairs long with over 6,800 predicted coding genes, and several unique genes linked to carbohydrate metabolism and virulence factors were identified, aiding in the understanding of its resistance abilities.
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- LPAC (Low Phospholipid-Associated Cholelithiasis) is a rare genetic syndrome that contributes to biliary diseases, and its treatment with bile salts can prevent symptoms and surgeries.
- A study conducted from February 2021 to September 2022 identified 36 LPAC patients, indicating an incidence rate of 2.5% among hospital admissions for biliary causes, with higher rates in younger patients and women.
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Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Orphanet J Rare Dis
April 2024
Department of Hepatology, Fifth Medical Center, PLA General Hospital, No.100, West Fourth Ring Road, Fengtai District, Beijing, 100039, China.
Background: ABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations. The correlation between genotype and clinical phenotype still unclear. This study retrospectively analyzed the clinical and pathological characteristics of 23 patients with ABCB4 gene-related cholestatic liver diseases.
View Article and Find Full Text PDFClinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
J Pediatr Gastroenterol Nutr
February 2024
Paediatric Liver, GI & Nutrition Centre, King's College Hospital, London, UK.
Objectives: Biallelic variants in the adenosine triphosphate binding cassette subfamily B member 4 (ABCB4) gene which encodes the multidrug resistance 3 protein (MDR3) leads to progressive familiar intrahepatic cholestasis type 3. However, monoallelic variants are increasingly recognized as contributing to liver disease in adults. Our aim was to describe the clinical characteristics of MDR3 heterozygous variants in a large cohort of infants and children with cholestatic liver disease.
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