In the recent past, major achievements have been obtained in the understanding of the molecular defects at the basis of several different diseases. The field of 'Molecular Medicine' has thus become more solid, and several reports have been published linking the basic molecular investigation to the clinical practice. In line with this new approach to medicine a Symposium was organized where the linkage between investigations in basic science could be explored in view of clinical disorders, and vice versa. in Rosario, Argentina, September 9-11, 1999, molecular biologists, molecular pathologists and clinicians discussed the molecular defects possibly at the basis of some common diseases. This report summarizes the presentations and discussions during the symposium.
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http://dx.doi.org/10.3892/ijmm.5.3.301 | DOI Listing |
ChemSusChem
January 2025
Beijing National Laboratory for Molecular Sciences, State Key Laboratory for Structural Chemistry of Unstable and Stable Species, College of Chemistry and Molecular Engineering, Peking University, Beijing, 100871, P.R. China.
Inverted perovskite solar cells (IPSCs) utilizing nickel oxide (NiO) as hole transport material have made great progress, driven by improvements in materials and interface engineering. However, challenges remain due to the low intrinsic conductivity of NiO and inefficient hole transport. In this study, we introduced MoS nanoparticles at the indium tin oxide (ITO) /NiO interface to enhance the ITO surface and optimize the deposition of NiO, resulting in increased conductivity linked to a ratio of Ni:Ni.
View Article and Find Full Text PDFRev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
View Article and Find Full Text PDFACS Appl Mater Interfaces
January 2025
Key Laboratory of Functional Inorganic Material Chemistry, Ministry of Education of the People's Republic of China, School of Chemistry and Materials Science, Heilongjiang University, Harbin 150080, People's Republic of China.
The concurrent evolution of value-added benzimidazole compounds and hydrogen within the domain of chemical synthesis is of paramount importance. The utilization of photocatalysis enhances both the efficiency and environmental benignity of the synthetic process. However, it is profoundly challenging within a photocatalytic system to simultaneously augment the number of active sites and the internal transport rate of photogenerated charge carriers.
View Article and Find Full Text PDFNucleic Acids Res
January 2025
Molecular Microbiology and Structural Biochemistry, MMSB-IBCP, CNRS UMR 5086 , Université Claude Bernard Lyon 1, F-69367 Lyon, France.
The nonsense-mediated mRNA decay (NMD) pathway triggers the degradation of defective mRNAs and governs the expression of mRNAs with specific characteristics. Current understanding indicates that NMD is often significantly suppressed during viral infections to protect the viral genome. In numerous viruses, this inhibition is achieved through direct or indirect interference with the RNA helicase UPF1, thereby promoting viral replication and enhancing pathogenesis.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Endocrinology and Metabolic Diseases, Shandong First University Affiliated Central Hospital, Jinan, China.
Background: KBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.
Methods And Results: We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis.
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