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| 1 | PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses显示文摘 | Shaun Purcell Benjamin Neale Kathe Todd-Brown Lori Thomas Manuel A.R. Ferreira David Bender Julian Maller Pamela Sklar Paul I.W. de Bakker Mark J. Daly Pak C. Sham | 2007 | The American Journal of Human Genetics2007，，3： | 5 |
| 2 | Rational use of mesenchymal stem cells in the treatment of autism spectrum disorders显示文摘Autism and autism spectrum disorders(ASD) refer to a range of conditions characterized by impaired social and communication skills and repetitive behaviors caused by different combinations of genetic and environmental influences. Although the pathophysiology underlying ASD is still unclear, recent evidence suggests that immune dysregulation and neuroinflammation play a role in the etiology of ASD. In particular, there is direct evidence supporting a role for maternal immune activation during prenatal life in neurodevelopmental conditions. Currently, the available options of behavioral therapies and pharmacological and supportive nutritional treatments in ASD are only symptomatic. Given the disturbing rise in the incidence of ASD, and the fact that there is no effective pharmacological therapy for ASD, there is an urgent need for new therapeutic options. Mesenchymal stem cells(MSCs) possess immunomodulatory properties that make them relevant to several diseases associated with inflammation and tissue damage. The paracrine regenerative mechanisms of MSCs are also suggested to be therapeutically beneficial for ASD.Thus the underlying pathology in ASD, including immune system dysregulation and inflammation, represent potential targets for MSC therapy. This review willfocus on immune dysfunction in the pathogenesis of ASD and will further discuss the therapeutic potential for MSCs in mediating ASD-related immunological disorders. | Qiang Liu Mo-Xian Chen Lin Sun Chloe U Wallis Jian-Song Zhou Li-Juan Ao Qi Li Pak C Sham | 2019 | World Journal of Stem Cells2019，11，2： | 5 |
| 3 | 胎儿期恰逢1959~1961年饥荒的中国成人精神分裂症的发病率显示文摘背景:精神分裂症是一种常见的中度精神障碍。子宫内营养缺乏可增大患精神分裂症的危险。其主要依据来自1944~1945年荷兰饥饿冬天(Dutch Hunger Winter)研究,当时食品摄入在短期内极剧下降。这项有关饥荒期间受孕人群的大型队列研究显示,发生精神分裂症的危险增大两倍。
目的:确定经受1959~1961年大饥荒的中国人是否有相似的结果。
设计、地点及参试者:发生精神分裂症危险的调查于安徽省芜湖地区进行,这是当初受灾最重的地区之一。对饥荒之前、饥荒期间和饥荒以后出生的人群发病率进行比较。芜湖及其周围6个县是由一所精神病院负责的。对1971~2001年所有的精神病病历记录均进行检查。精神分裂症患者的临床和社会人口学资料由对自然灾害暴露情况不知情的研究者摘录。有关饥荒年出生人数和死亡人数的数据是有效可用的,累积死亡率根据以后的人口学调查进行估计。
主要观测指标:饥荒的证据已经核实,计算未校正的以及对死亡率进行校正后的发生精神分裂症的相对危险度。
结果:安徽省的出生率(每1000人)在饥荒期问降低了约80%,从1958年的28.28降至1959年的20.97、1960年的8.61和1961年的11.06。在饥荒期间出生的人,晚年发生精神分裂症的校正后危险明显增高,从1959年的0.84%增至1960年的2.15%和1961年的1.81%。死亡率校正相对危险在1960年出生者为2.30(95%可信区间,1.99~2.05),1961年出生者为1.93(95%可信区间,1.68~2.23)。
结论:我们的调查重复了荷兰不同种族人群的数据,结果显示,出生前遭受饥荒可增高晚年患精神分裂症的危险。 | David St Clair Mingqing Xu Peng Wang Yaqin Yu Yourong Fang Feng Zhang Xiaoying Zheng Niufan Gu Guoyin Feng Pak Sham Lin He 张继志(译) | 2006 | 美国医学会杂志(中文版)2006，25，4： | 3 |
| 4 | PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses显示文摘 | Shaun Purcell Benjamin Neale Kathe Todd-Brown Lori Thomas Manuel A.R. Ferreira David Bender Julian Maller Pamela Sklar Paul I.W. de Bakker Mark J. Daly Pak C. Sham | 2007 | The American Journal of Human Genetics2007，，3： | 3 |
| 5 | A family study of endophenotypes for psychosis within an early intervention programme in Hong Kong: Rationale and preliminary findings显示文摘The study of endophenotypes may be a viable strategy to tackle the genetic complexity and phenotypic heterogeneity of psychosis, but this research direction is relatively under-developed in China as compared to Western countries. We have recently initiated one of the first family studies of endophenotypes for psychosis in China. Patients entering an established early psychosis intervention service are recruited into this research project for phenotyping, endophenotyping and genotyping. At the endophenotypic level, four domains (neurological soft signs, neurocognition of prospective memory, social cognition of facial emotion recognition, and affective cognition of anticipatory and consummatory pleasure) are studied in the sample of patients with psychosis and their unaffected siblings. This article illustrates the benefit of a research-oriented clinical programme and its findings based on the data collected as of early 2011. | LUI Simon S Y SHAM Pak CHAN Raymond C K CHEUNG Eric F C | 2011 | Chinese Science Bulletin2011，56，32： | 2 |
| 6 | Statistical issues and approaches in endophenotype research显示文摘The endophenotype concept was initially proposed to enhance the power of genetic studies of complex disorders. It is closely related to the genetic component in a liability-threshold model; a perfect endophenotype should have a correlation of 1 with the genetic component of the liability to disease. In reality, a putative endophenotype is unlikely to be a perfect representation of the genetic component of disease liability. The magnitude of the correlation between a putative endophenotype and the genetic component of disease liability can be estimated by fitting multivariate genetic models to twin data. A number of statistical methods have been developed for incorporating endophenotypes in genetic linkage and association analyses with the aim of improving statistical power. The most recent of such methods can handle multiple endophenotypes simultaneously for the greatest increase in power. In addition to increasing statistical power, endophenotype research plays an important role in helping to understand the mechanisms which connect the associated genetic variants with disease occurrence. Novel statistical approaches may be required for the analysis of the complex relationships between endophenotypes at different levels and how they converge to cause the occurrence of disease. | SHAM Pak Chung CHERNY Stacey S HALL Mei-Hua | 2011 | Chinese Science Bulletin2011，56，32： | 2 |
| 7 | Circulating Adipocyte-Fatty Acid Binding Protein Levels Predict the Development of the Metabolic Syndrome: A 5-Year Prospective Study显示文摘 | Aimin Xu Annette W.K. Tso Bernard M.Y. Cheung Yu Wang Nelson M.S. Wat Carol H.Y. Fong Dennis C.Y. Yeung Edward D. Janus Pak C. Sham Karen S.L. Lam | 2007 | Circulation2007，，12： | 1 |
| 8 | Confirmation of linkage to chromosome 1q for spine bone mineral density in southern Chinese显示文摘 | Ching-Lung Cheung Qing-Yang Huang Mandy Y. M. Ng Vivian Chan Pak C. Sham Annie W. C. Kung | 2006 | Human Genetics2006，，3： | 1 |
| 9 | Serum AdiPocyte Fatty Acid Binding Protein as a New Biomarker Predicting the DeveloPment of TyPe 2 Diabetes显示文摘 | Tso Annette W K Xu Ai min Sham Pak C etal | 2007 | Diabetes Care2007，，： | 1 |
| 10 | A genetic variant in the gene encoding adrenomedullin predicts the development of dysglycemia over 6.4<ce:hsp sp='0.25'/>years in Chinese显示文摘 | Kwok Leung Ong Annette W.K. Tso Raymond Y.H. Leung Stacey S. Cherny Pak Chung Sham Tai Hing Lam Bernard M.Y. Cheung Karen S.L. Lam | 2010 | Clinica Chimica Acta2010，，3： | 1 |
| 11 | Serum Adipocyte Fatty Acid-Binding Protein as a New Biomarker Predicting the Development of Type 2 Diabetes 显示文摘 | Tso Annette W K Xu Aimin Sham Pak C | 2007 | Diabetes Care2007，，30： | 1 |
| 12 | PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses显示文摘 | Shaun Purcell Benjamin Neale Kathe Todd-Brown Lori Thomas Manuel A.R. Ferreira David Bender Julian Maller Pamela Sklar Paul I.W. de Bakker Mark J. Daly Pak C. Sham | 2007 | The American Journal of Human Genetics2007，，3： | 1 |
| 13 | PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses显示文摘 | Shaun Purcell Benjamin Neale Kathe Todd-Brown Lori Thomas Manuel A.R. Ferreira David Bender Julian Maller Pamela Sklar Paul I.W. de Bakker Mark J. Daly Pak C. Sham | 2007 | The American Journal of Human Genetics2007，，3： | 1 |
| 14 | Circulating Levels of Adipocyte and Epidermal Fatty Acid-Binding Proteins in Relation to Nephropathy Staging and Macrovascular Complications in Type 2 Diabetic Patients显示文摘 | Yeung Dennis C Y Xu Aimin Tso Annette W K Chow W S Wat Nelson M S Fong Carol H Y Tam Sidney Sham Pak C Lam Karen S L | 2009 | Diabetes Care2009，，1： | 1 |
| 15 | Circulating Adipocyte-Fatty Acid Binding Protein Levels Predict the Development of the Metabolic Syndrome: A 5-Year Prospective Study显示文摘 | Aimin Xu Annette W.K. Tso Bernard M.Y. Cheung Yu Wang Nelson M.S. Wat Carol H.Y. Fong Dennis C.Y. Yeung Edward D. Janus Pak C. Sham Karen S.L. Lam | 2007 | Circulation2007，，12： | 1 |
| 16 | Epistasis in Quantitative Trait Locus Linkage Analysis: Interaction or Main Effect?显示文摘 | Shaun Purcell Pak C. Sham | 2004 | Behavior Genetics2004，，2： | 1 |
| 17 | Coagulation factors and the incidence of COVID-19 severity:Mendelian randomization analyses and supporting evidence显示文摘Dear Editor,The evolving pandemic of coronavirus disease 19(COVID-19),is arousing alarm to public health.According to epidemiological and observational investigations,coagulopathy was frequently seen in severe COVID-19 patients1.Some coagulation factors such as D-dimer,prothrombin time(PT);von Willebrand factor(VWF),platelet count,and fibrinogen were documented to be important predictors of critically ill patients with COVID-19 in many retrospective observational studies and were substantially discussed before(see Supplementary Notes),yet the causality from specific coagulation factors to the incidence of COVID-19 severity and the underlying mechanism remains elusive. | Yao Zhou Xinyi Qian Zipeng Liu Hongxi Yang Tong Liu Kexin Chen Yaogang Wang Pak Chung Sham Ying Yu Mulin Jun Li | 2021 | Signal Transduction and Targeted Therapy2021，6，7： | 0 |
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