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In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance.
Clin Transl Med
January 2023
Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: SMC5/6 complex plays a vital role in maintaining genome stability, yet the relationship with human diseases has not been described.
Methods: SMC5 variation was identified through whole-exome sequencing (WES) and verified by Sanger sequencing. Immunoprecipitation, cytogenetic analysis, fluorescence activated cell sorting (FACS) and electron microscopy were used to elucidate the cellular consequences of patient's cells.
Real-time determination of glucose consumption by live cells using a lab-on-valve system with an integrated microbioreactor.
Analyst
October 2002
University of Washington, Department of Chemistry, Seattle, WA 98195, USA.
This paper describes a microquantitative method for glucose determination in situ of living cells in real-time. In this novel technique adherent cells are cultured onto microcarrier beads and packed into a renewable microcolumn within a microsequential injection lab-on-valve system (microSI-LOV). Glucose sensing is performed through the use of a two-step, NAD-linked enzymatic process.
View Article and Find Full Text PDFMicroquantitative determination of lactate dehydrogenase isoenzymes in the myocardium and the conducting system.
Histochem J
July 1994
Anatomisches Institut der Universität, Basel, Switzerland.
A newly developed technique was used for the electrophoretic separation of lactate dehydrogenase (LDH) isoenzymes from lyophilized tissue samples in the nanogram range. In this study portions of 10-200 ng from the myocardium and the conducting system of cattle, sheep, pig and man were microdissected and analysed. In the heart tissues of cattle, sheep and pig, the isoforms LDH1, LDH2 and LDH3 were detected in species-specific varying amounts.
View Article and Find Full Text PDFThe intramucosal distribution of gastric alcohol dehydrogenase and aldehyde dehydrogenase activity in rats.
Histochemistry
December 1992
Anatomisches Institut, Universität Basel, Switzerland.
Using qualitative and microquantitative histo-chemical techniques, alcohol dehydrogenase and aldehyde dehydrogenase activity was studied in the gastric mucosa of male and female rats. Alcohol dehydrogenase was demonstrated by staining reactions with maximum activity in surface and neck cells and with clearly weaker activity also in parietal cells. Aldehyde dehydrogenase could be detected in surface and neck cells, and also to a comparable degree in the parietal cells.
View Article and Find Full Text PDF[Value of serum glycosidase spectrum in the diagnosis of hepatocellular carcinoma].
Zhonghua Zhong Liu Za Zhi
March 1992
Institute of Hepatobiliary Surgery, Second Military Medical University, Shanghai.
Activities of alpha-L-fucosidase (alpha-Fucase), N-acetyl-beta-D-glucosaminidase (beta-GlcNA-case), N-acetyl-beta-D-galactosaminidase (beta-GalNAcase) and alpha-mannosidase (alpha-Manase) in sera of normal adults, patients with hepatocellular carcinoma (HCC), benign liver diseases and non-liver diseases were determined by microquantitative spectrophotometry. The results showed that the activity of the four serum glycosidases in patients with HCC was significantly higher than that in normal adults. When the maximum 95% confidence limit was used as the positive line, the positivities of alpha-Fucase, beta-GlcNAcase, beta-GalNAcase and alpha-Manase for the diagnosis of HCC were 66.
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