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Li N.S.,Peking Union Medical College | Li N.S.,Key Laboratory of Endocrinology
Science China Life Sciences

Editorial comment Translational medicine is a new discipline which aims to eliminate the barrier between preclinical and clinical medicine. Here, Dr. Li discusses the application of translational medicine in the research, teaching and clinical work of Prof. Liu Shih-Hao, the founder of endocrinology in China, who was particularly renowned for his early work in calcium and phosphorus metabolism. This well-known success story can be traced back to an early appreciation of translational medicine by Prof. Liu Shih-Hao, and serves as an important and revelatory lesson for us all. © 2011 Science China Press and Springer-Verlag Berlin Heidelberg. Source

Zhang Z.,Shanghai JiaoTong University | Xia W.,Key Laboratory of Endocrinology | He J.,Shanghai JiaoTong University | Ke Y.,Shanghai JiaoTong University | And 9 more authors.
American Journal of Human Genetics

By using whole-exome sequencing, we identified a homozygous guanine-to-adenine transition at the invariant -1 position of the acceptor site of intron 1 (c.97-1G>A) in solute carrier organic anion transporter family member 2A1 (SLCO2A1), which encodes a prostaglandin transporter protein, as the causative mutation in a single individual with primary hypertrophic osteoarthropathy (PHO) from a consanguineous family. In two other affected individuals with PHO from two unrelated nonconsanguineous families, we identified two different compound heterozygous mutations by using Sanger sequencing. These findings confirm that SLCO2A1 mutations inactivate prostaglandin E2 (PGE2) transport, and they indicate that mutations in SLCO2A1 are the pathogenic cause of PHO. Moreover, this study might also help to explain the cause of secondary hypertrophic osteoarthropathy. © 2012 The American Society of Human Genetics. Source

Liu B.,Chinese Academy of Sciences | Tang L.H.,Sloan Kettering Cancer Center | Liu Z.,Peking University | Mei M.,Chinese Academy of Sciences | And 17 more authors.
Journal of Clinical Endocrinology and Metabolism

Purpose: We aimed to test whether -internexin could be a molecular biomarker of tumor aggressiveness and prognosis in pancreatic neuroendocrine tumors (PNETs). Patients and Methods: Using immunohistochemical staining and Western blot, we detected the expression of α-internexin in 350 tumors from 343 patients, of whom 257 were followed up. Methylation ofα-internexin promoter was examined by bisulfite sequencing to identify the crucial region that determines gene expression. Methylation of gene promoter in tumors was quantitatively measured by denaturing high performance liquid chromatography (DHPLC). We correlated -internexin expression with clinicopathological characteristics. Results: α-Internexin was expressed in 53% of 350 PNETs. The reduced expression of α-internexin wassignificantly associated with advanced stage (P<.0001), metastases (P<.0001),andrecurrence (P = .003). -Internexin expression was found in 57.1% of 212 surviving patients and in 17.1% of 35 deceased patients (P < .0001). Reduced expression of α-internexin was associated with shorter overall survival in PNET patients (log rank P<.0001) as well as in patients with noninsulinoma and nonfunctional (NF)-PNETs (log rank P = 0.0073 and P = 0.010, respectively). The crucial region of -internexin promoter (-149 to+96 nucleotides [nt]) was identified, and the hypomethylation of this area in PNETs was significantly associated with gene expression (P = .015). Conclusion: -Internexin can be a useful prognostic biomarker for PNETs. © 2014 by the Endocrine Society. Source

Wang O.,Key Laboratory of Endocrinology | Wang C.,Key Laboratory of Endocrinology | Nie M.,Key Laboratory of Endocrinology | Cui Q.,Peking Union Medical College | And 6 more authors.

Objective: It is widely recognized that the diagnosis of parathyroid carcinoma (PC) is often difficult because of the overlap of characteristics between malignant and benign parathyroid tumors, especially at an early stage. Based on the identification of tumor suppressor gene HRPT2/CDC73 and its association with hereditary and sporadic PC, screening of gene mutations and detection of parafibromin immunoreactivity have been suggested as diagnostic instruments of PC in Whites. There is little information about HRPT2/CDC73 mutations and its corresponding protein expression in patients with sporadic PC in Chinese population, and the long-term follow-up data is scarce. Methods: Paraffin-embedded tissues were obtained from 13 patients with PC, 13 patients with parathyroid adenoma (PA) and 7 patients with parathyroid hyperplasia(PH), and 6 normal parathyroid (NP) tissues as controls. Peripheral blood from 11 patients with PC was collected. PCR products using Genomic DNA extracted from tumor tissues or blood as template was sequenced for HRPT2/CDC73 gene. Expression of parafibromin in tumor tissues was evaluated by immunohistochemical analysis. Results: Six mutations in 6 of 13 patients with PC were identified, with three being novel. Four of them were germ-line mutations. Patients with mutations were susceptible to recurrence of the PC. Complete (8/13, 61.5%) or partial (5/13, 38.5%) loss of parafibromin expression was observed in PC tissues. All of tissue samples from normal parathyroid or benign parathyroid tumors displayed positive immunostaining of parafibromin except one adenoma. Conclusions: The present study supplies information on the mutations and protein expression of HRPT2/CDC73 gene and phenotypes of parathyroid carcinoma in Chinese population. And the expanded mutation database of this gene may benefit patients in the diagnosis and treatment of this disease. © 2012 Wang et al. Source

Wang Y.,Peking Union Medical College | Wang Y.,Key Laboratory of Endocrinology | Wang O.,Peking Union Medical College | Wang O.,Key Laboratory of Endocrinology | And 8 more authors.
Medicine (United States)

To investigate whether single nucleotide polymorphisms (SNPs) within 4 representative genes (VDR, GC, CYP2R1, and CYP24A1) encoding the core proteins involved in vitamin D production, degradation, and ligand-dependent signaling pathway are associated with gestational diabetes mellitus (GDM) in a Chinese population. A total of 1494 pregnant Han Chinese women (692 women with GDM and 802 women with normal glucose served as controls) were recruited through a 2-step approach. Participants were further divided into 2 groups according to body mass index before gestation (pre-BMI) (25 kg/m2). Nine SNPs (rs3733359, rs2282679, and rs16847024 in GC, rs2060793 and rs10741657 in CYP2R1, rs2248359 and rs6013897 in CYP24A1, rs11574143 and rs739837 in VDR) were genotyped using TaqMan allelic discrimination assays. The relationships between genotypes/alleles of a single locus as well as haplotypes of each gene and GDM were analyzed. We did not observe a significant difference in genotype frequency of each SNP between cases and controls. However, in the obese subgroup (pre-BMI ≥ 25 kg/m2), the risk allele-A of rs3733359 showed an association with increased risk of GDM (OR=1.739, 95% CI=1.066-2.837, P=0.027). The GG-haplotype frequency of rs3733359 and rs2282679 in GC was modestly lower in the GDM group (OR=0.848, 95% CI=0.719-0.999, P=0.048). Rs2060793 and rs10741657 were associated with insulin area under the curve (P=0.028, P=0.042, respectively), while rs739837 and rs6013897 demonstrated a correlation with fasting glucose (P=0.019, P=0.049, respectively). Additionally, rs2248359 displayed an association with leukocyte counts (B=0.063 P=0.033) and rs16847024 was related to high-sensitivity C-reactive protein levels (B=0.086, P=0.005). Our results indicate an association between GC variants and GDM, as well as a relation between a subset of loci in CYP2R1, CYP24A1, and VDR and clinical parameters related to GDM. Our findings may provide information for identifying biomarkers for early risk prediction of GDM and the pathways involved in disease progression. © 2015 Wolters Kluwer Health, Inc. All rights reserved. Source

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