6 results match your criteria: "Central Laboratory of Nanjing First Hospital affiliated to Nanjing Medical University[Affiliation]"

Hemophilia A is an X-linked recessive bleeding disorder, widely prevalent throughout the world, for which, replacement therapy is the current treatment done by infusion of either recombinant FVIII or human plasma derived FVIII. The expression of FVIII is limited by many aspects, bioengineered FVIII with increased the activity and/or the stability can overcome some of these limitations. We demonstrate that a furin cleavage site (RKRR) and a 2A self-processing peptide derived from FMDV can efficiently and apparently facilitate the equimolar expression of full-length FVIII heavy and light chains from a single ORF, and the FVIII heavy and light chain can self-assemble to form a functional molecule in vivo and in vitro.

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Background: Decreased expression of adiponectin (ADIPOQ) is associated with an increased risk for developing colorectal cancer (CRC) in humans. This study was designed to determine whether polymorphisms present in the ADIPOQ and its type 1 receptor (ADIPOR1) could affect the risk of CRC.

Methods: We measured five polymorphisms in the ADIPOQ and two polymorphisms in ADIPOR1, and analyzed their associations with CRC risk in 420 CRC patients and 555 age- and gender-matched healthy individuals.

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Leptin and leptin receptor have been implicated in processes leading to breast cancer initiation and progression. An A to G transition mutation in codon 223, in exon 6 of the leptin receptor gene (LEPR) can result in glutamine to arginine substitution (Gln223Arg). A variety of case-control studies have been published evaluating the association between LEPR Gln223Arg polymorphism and breast cancer.

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Type 2 diabetes is a common complex disorder with environmental and genetic components. The aim of the present study was to investigate the association between the polymorphisms of RAPGEF1, TP53 and NRF1 and the risk of type 2 diabetes in the Chinese Han population. We genotyped rs11243444 (RAPGEF1), rs1042522 (TP53) and rs1882095 (NRF1) in a case-control study, including 273 type 2 diabetes and 247 healthy controls.

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Loss of imprinting (LOI) of the insulin-like growth factor 2 gene (IGF2) is one of the most common epigenetic abnormalities seen in human neoplasms. LOI may be associated with the lack of Zinc-finger DNA binding protein CTCF-mediated enhancer insulation, presumably due to the gain of methylation on the maternal allele of the differentially methylated domain (DMD) of the imprinting control region. This results in an interaction between the IGF2 promoters and enhancers; and IGF2 is produced from both alleles.

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Objective: To determine whether polymorphisms of the estrogen receptor alpha (ERalpha) and interleukin-10 (IL-10) genes are associated with endometriosis in a Chinese population.

Design: Association study.

Setting: University hospital.

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