Consulta: creatorFacets:"Li,Jian"
Registros recuperados: 4
Data/hora: 01/06/2024 00:40:57

Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family
Provedor de dados: 74
Autores: Wang,Xiran; Pei,Yu; Dou,Jingtao; Lu,Juming; Li,Jian; Lv,Zhaohui.
Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. This report is of a Chinese daughter and mother who had both experienced two bone fractures. Because skeletal fragility is predominantly inherited, we focused on identifying mutations in COL1A1 and COL1A2 genes. A novel mutation in COL1A1, c.700delG, was detected by genomic DNA sequencing in the mother and daughter, but not in their relatives. The identification of this mutation led to the conclusion that they were...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Osteogenesis imperfecta; Chinese OI type 1 family; Type I collagen; Sequence analysis; Frameshift mutation.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100001

Cloning and Characterization of the Gene Encoding 3-hydroxy-3- Methylglutaryl-coenzyme A (HMG-CoA) Reductase from Fritillaria Cirrhosa D. Don
Provedor de dados: 52
Autores: Zhao,Qi; Li,Rui; Chen,Xiao; Yang,Qian; Li,Jian.
ABSTRACT The enzyme 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR; EC1.1.1.34) catalyzes the first committed step of isoprenoids biosynthesis in Mevalonate (MVA) pathway. Here we report for the first time the cloning and characterization of a full-length cDNA encoding HMGR from Fritillaria cirrhosa (FcHMGR), a bulbous medicinal plant. The full-length cDNA of FcHMGR was 2072 base pair (bp), containing a 1680-bp open reading frame. Bioinformatical analyses revealed that FcHMGR had HMG CoA-binding domains and two NADPH binding domains, which are required for HMGR activity. Quantitative real-time PCR (qRT-PCR) analysis revealed that FcHMGR expressed high in mature bulbs. A truncated version of FcHMGR protein lacking the N-terminal 249-bp GC rich area was...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: 3-Hydroxy-3-methylglutaryl-CoA reductases; Fritillaria cirrhosa; Molecular cloning; Expression pattern; Prokaryotic expression.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132018000100438

A biomechanical study on proximal junctional kyphosis following long-segment posterior spinal fusion
Provedor de dados: 56
Autores: Zhu,Wen-Yi; Zang,Lei; Li,Jian; Guan,Li; Hai,Yong.
Posterior long-segment spinal fusion may lead to proximal junctional kyphosis (PJK). The present study sought to identify the appropriate fusion levels required in order to prevent PJK using finite element analysis. A finite element model was constructed based on the whole-spine computed tomography findings of a healthy adult. Nine commonly used posterior spinal fusion methods were selected. Stress on the annulus fibrosis fibers, the posterior ligamentous complex, and the vertebrae after various spinal fusions in the upright position were compared. This study was divided into two groups: non-fusion and fusion. In the former, the stress between the T10 and the upper thoracic vertebrae was higher. Comparing thoracic and lumbar segments in the fusion group,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Adult spinal deformity; Proximal junctional kyphosis; Upper instrumented vertebra; Functional spinal unit; Finite element.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000500604

Effect of thymosin alpha-1 on subpopulations of Th1, Th2, Th17, and regulatory T cells (Tregs) in vitro
Provedor de dados: 56
Autores: Yang,Xia; Qian,Feng; He,Hai-Yang; Liu,Kai-Jun; Lan,Yuan-Zhi; Ni,Bing; Tian,Yi; Fu,Xiao-Lan; Zhang,Ji; Shen,Zi-Gang; Li,Jian; Yin,Yi; Li,Jin-Tao; Wu,Yu-Zhang.
Thymosin alpha 1 (Tα1) has been shown to have beneficial effects on numerous immune system parameters, but little is known about the effects of Tα1 on patients with gastric carcinoma. The objective of this study was to determine the effect of Tα1 on subpopulations of Th1, Th2, Th17, and regulatory T cells (Tregs) in vitro, and to evaluate its efficacy as an immunoregulatory factor in patients with gastric carcinoma. We compared the effect of Tα1 on the frequency of CD4+ and CD8+ T cells, especially the CD4+CD25+Foxp3+ Tregs in peripheral blood mononuclear cells (PBMCs) from gastric carcinoma patients (N = 35) and healthy donors (N = 22). We also analyzed the changes in the proliferation of PBMCs in response to treatment with Tα1, and examined the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Tα1; Gastric carcinoma; Tregs; Th1; Th2; Th17.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000100005