| 1 | Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype- phenotype analysis显示文摘The Patched 1(PTCH1)gene encodes a membrane receptor involved in the Hedge-hog(Hh)signaling pathway,an abnormal state of which may result in congenital defects or hu-man tumors.In this study,we conducted whole-exome sequencing on a three-generation Chinese family characterized with variable penetrance of orofacial clefts.A rare heterozygous variant in the PTCH1 gene(c.2833C>T p.R945X)was identified as a disease-associated mutation.Structural modeling revealed a truncation starting from the middle of the second extracellular domain of PTCH1 protein.This may damage its ligand recognition and sterol transportation abilities,thereby affecting the Hh signaling pathway.Biochemical assays indi-cated that the R945X protein had reduced stability compared to the wild-type in vitro.In addi-tion,we reviewed the locations and mutation types of PTCH1 variants in individuals with clefting phenotypes,and analyzed the associations between clefts and locations or types of variants within PTCH1.Our findings provide further evidence that PTCH1 variants result in or-ofacial clefts,and contributed to genetic counseling and clinical surveillance in this family. | Wenjie Zhong Huaxiang Zhao Wenbin Huang Mengqi Zhang Qian Zhang Yue Zhang Chong Chen Zulihumaer Nueraihemaiti Dilifeire Tuerhong Huizhe Huang Gulibaha Maimaitili Feng Chen Jiuxiang Lin | 2021 | Genes & Diseases2021，8，5： | 1 |
| 3 | The correlated study of hyperuricemia and metabolicsyndromes among males of Han ethnicity in the Xinjiang UygurAutonomous Region,China显示文摘This study investigates the relationship between hyperuricemia and metabolic syndrome(MS)among males of Han ethnicity in the Xinjiang Uygur Autonomous Region,China.The blood samples were collected from January to May,2006 in Urumqi.It included 1496 subjects with ages between 20 to 70 years.All these subjects had physical examinations,blood pressure(BP)measurement and analysis for serum uric acid(SUA),fasting blood sugar(FBS),serum triglycer-ide(TG),serum total cholesterol(TC),serum high den-sity lipoprotein(HDL-C)and serum low density lipoprotein(LDL-C)as well as biochemistry assay.The Data were analyzed using the Pearson Chi-Square Test,Independent-Samples T-Test and the Mantel-Haenszel Test for linear trend,respectively.The results show that the prevalence of MS in the present study was 18%.Blood pressure,fasting blood sugar,body mass index(BMI),waist/hip ratio(WHR),TG,TC and LDL-C were significantly higher in the hyperuricemic group than in normal group and these parameters were strongly related to serum uric acid levels.The com-ponents of metabolic syndrome such as obesity,hyper-glycemia,hypertension and dyslipidemia had a close correlation with SUA.The Odds ratios of these meta-bolic diseases in the hyperuricemic group were 3.097 times,2.633 times,2.226 times and 3.058 times of the normal SUA group,respectively.They all have a positive correlation with hyperuricemia.Hyperurice-mia is closely linked to the various components of the metabolic syndrome.More emphasis should be put on the evolving control and prevalence of hyperuricemia and metabolic syndrome among males of Han ethnicity in Xinjiang. | Hua YAO Yuping SUN Qing LI Wenhai YAO Qiuyun WANG Jing HU Gulibaha ABUDUREHEMAN Ling TUO Yan JIANG | 2008 | Frontiers of Medicine2008，2，1： | 0 |
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