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| 1 | A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy显示文摘背景 Duchenne 肌肉发达的营养障碍(DMD ) 和贝克尔肌肉发达的营养障碍(BMD ) 是 X 连接后退的、突变而产生之遗传的混乱。这研究被进行与 Duchenne 或贝克尔在香港中国病人调查 DMD 基因变化的光谱,并且学习遗传型显型肌肉发达的营养障碍(DMD/BMD ) 关联。67 个病人的方法 Aretrospective 评论。结果 23 (34.3%) 病人们在删除上有前;而 5 (7.5%) 病人们在复制上有前。23 (34.3%) 病人们有小变化,包括 17 个点变化和 6 小插入或删除。没有关联在变化和肌肉显型或智力迟钝的类型之间被发现。显著地,更少母亲的搬运人在删除上与前在病人被发现,并且积极家庭历史在有小变化的那些是更普通的。DMD 显型是显著地不在有在 5'' 热点的 exondeletions/duplications 的病人普通,而与智力迟钝联系的所有 4 个小变化位于 3'' ,基因结束。结论在本地中国病人的 DMD exondeletions 的百分比比显著地低通常引用了 60% 。Thisindicated 在到删除上的 DMD 前的倾向的种族或地区性的差别。 | Ivan Fai-man Lo Kent Keung-san Lai Tony Ming-for Tong Stephen Tak-sum Lam | 2006 | Chinese Medical Journal2006，，13： | 21 |
| 2 | Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome显示文摘Background Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. Methods Thirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing. Results NSD1 gene mutations were detected in 26 (72%) Sotos patients. Microdeletion was found in only 3 patients, while the other 23 had point mutations (6 frameshift, 8 nonsense, 2 spice site, and 7 missense). Of these, 19 mutations were never reported. NSD1 gene mutations were not found in the two patients with Weaver syndrome. Conclusions Most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth. The two patients with Weaver syndrome were not found to have NSD1 gene mutations, but the number was too small for any conclusion to be drawn. | Tony M.F. Tong Edgar W.L. Hau Ivan F.M. Lo Daniel H.C. Chan Stephen T.S. Lam | 2005 | Chinese Medical Journal2005，，18： | 10 |
| 3 | Cell cycle-related kinase reprograms the liver immune microenvironment to promote cancer metastasis显示文摘The liver is an immunologically tolerant organ and a common metastatic site of multiple cancer types.Although a role for cancer cell invasion programs has been well characterized,whether and how liver-intrinsic factors drive metastatic spread is incompletely understood.Here,we show that aberrantly activated hepatocyte-intrinsic cell cycle-related kinase(CCRK)signaling in chronic liver diseases is critical for cancer metastasis by reprogramming an immunosuppressive microenvironment.Using an inducible liverspecific transgenic model,we found that CCRK overexpression dramatically increased both B16F10 melanoma and MC38 colorectal cancer(CRC)metastasis to the liver,which was highly infiltrated by polymorphonuclear-myeloid-derived suppressor cells(PMNMDSCs)and lacking natural killer T(NKT)cells.Depletion of PMN-MDSCs in CCRK transgenic mice restored NKT cell levels and their interferon gamma production and reduced liver metastasis to 2.7% and 0.7%(metastatic tumor weights)in the melanoma and CRC models,respectively.Mechanistically,CCRK activated nuclear factor-kappa B(NF-κB)signaling to increase the PMN-MDSC trafficking chemokine C-X-C motif ligand 1(CXCL1),which was positively correlated with liver-infiltrating PMN-MDSC levels in CCRK transgenic mice.Accordingly,CRC liver metastasis patients exhibited hyperaaivation of hepatic CCRK/NF-κB/CXCL1 signaling,which was associated with accumulation of PMN-MDSCs and paucity of NKT cells compared to healthy liver transplantation donors.In summary,this study demonstrates that immunosuppressive reprogramming by hepatic CCRK signaling undermines antimetastatic immunosurveillance.Our findings offer new mechanistic insights and therapeutic targets for liver metastasis intervention. | Xuezhen Zeng Jingying Zhou Zhewen Xiong Hanyong Sun Weiqin Yang Myth T.S.Mok Jing Wang Jingqing Li Man Liu Wenshu Tang Yu Feng Hector Kwong-Sang W ang Shun-Wa Tsang King-Lau Chow Philip Chun Yeung John Wong Paul Bo-San Lai Anthony Wing-Hung Chan Ka Fai To Stephen Lam Chan Qiang Xia Jing Xue Xiao Chen Jun Yu Sui Peng Joseph Jao-Yiu Sung Ming Kuang Alfred Sze-Lok Cheng | 2021 | Cellular & Molecular Immunology2021，18，4： | 5 |
| 4 | Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma显示文摘Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer(NSCLC)risk,biological mechanisms of these variants remain largely unknown.By integrating a large-scale genotype data of 15581 lung adenocarcinoma(AD)cases,8350 squamous cell carcinoma(SqCC)cases,and 27355 controls,as well as multiple transcriptome and epigenomic databases,we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility variants.We identified 3064 credible risk variants for NSCLC,which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive sites.Transcription factor enrichment analysis revealed that USF1 was AD-specific while CREB1 was SqCC-specific.Functional annotation and genebased analysis implicated 894 target genes,including 274 specifics for AD and 123 for SqCC,which were overrepresented in somatic driver genes(ER=1.95,P=0.005).Pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways,while SqCC genes were homologous recombination deficiency related.Our results illustrate the molecular basis of both wellstudied and new susceptibility loci of NSCLC,providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments. | Na Qin Yuancheng Li Cheng Wang Meng Zhu Juncheng Dai Tongtong Hong Demetrius Albanes Stephen Lam Adonina Tardon Chu Chen Gary Goodman Stig EBojesen Maria Teresa Landi Mattias Johansson Angela Risch H-Erich Wichmann Heike Bickeboller Gadi Rennert Susanne Arnold Paul Brennan John KField Sanjay Shete Loic Le Marchand Olle Melander Hans Brunnstrom Geoffrey Liu Rayjean JHung Angeline Andrew Lambertus AKiemeney Shan Zienolddiny Kjell Grankvist Mikael Johansson Neil Caporaso Penella Woll Philip Lazarus Matthew BSchabath Melinda CAldrich Victoria LStevens Guangfu Jin David CChristiani Zhibin Hu Christopher IAmos Hongxia Ma Hongbing Shen | 2021 | Frontiers of Medicine2021，15，2： | 3 |
| 5 | Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady显示文摘 | SHEA Yat-fung LEE Chi-ho Harinder Gill CHOW Wing-sun LAM Yui-ming LUK Ho-ming LAM Stephen Tak-sum CHU Leung-wing | 2012 | Chinese Medical Journal2012，，16： | 3 |
| 6 | THREE NOVEL FOXL2 GENE MUTATIONS IN CHINESE PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME显示文摘 | OR SIU-FONG JUNE TONG MING-FOR TONY LO FAI-MAN IVAN LAM TAK-SUM STEPHEN | 2006 | Chinese Medical Journal2006，，1： | 3 |
| 7 | Fracture mechanisms in soft rock: Identification and quantification of evolving displacement discontinuities by extended digital image correlation显示文摘 | Tuong Lam Nguyen Stephen A. Hall Pierre Vacher Gioacchino Viggiani | 2010 | Tectonophysics2010，，1： | 2 |
| 8 | Evaluation of referrals for genetic investigation of short stature in Hong Kong | LAM Wai Fan Fanny, HAU Wai Lok Edgar and LAM Tak Sum Stephen Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China (Lam WFF, Hau WLE and Lam TSS) | 2002 | Chinese Medical Journal2002，，4： | 2 |
| 9 | Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome显示文摘To describe two Chinese patients with severe forms of Marfan syndrome and to report findings of mutational analysis of the fibrillin 1 (FBN1) gene Methods Two Chinese patients were studied, one suffering from Marfan syndrome of infantile onset and the other of neonatal onset Their clinical features were described Mutational analysis of the FBN1 gene was performed using polymerase chain reaction (PCR) technique and direct sequencing of exons 23-32, where the mutational hotspots for severe forms of Marfan syndrome are located Results Two missense mutations were successfully identified, a G3037A transition and an A3083T transversion, the latter being an unreported mutation Conclusion Taking advantage of the clustering phenomenon of mutations in severe forms of Marfan syndrome, one can identify FBN1 mutations in these patients by first screening the mutational hotspots, thus reducing the effort that would otherwise be much greater because of the size of the | Ivan F.M. LO, Rosanna M.S. WONG, Fanny W.F. LAM, Tony M.F. TONG and Stephen T.S. LAM | 2001 | Chinese Medical Journal2001，，5： | 1 |
| 10 | Traumatic Brain Injury in the Elderly: Is it as Bad as we Think?显示文摘 | Calvin Mak Stephen Wong George Wong Stephanie Ng Kevin Wang Ping Lam Wai Poon | 2012 | Current Translational Geriatrics and Gerontology Reports2012，，3： | 1 |
| 11 | Gradient-based contour encoding for character recognition 显示文摘 | Stephen W Lam | 1996 | Pattern Recognition1996，29，： | 1 |
| 12 | The angiogenic factor cysteine-rich 61 (CYR61,CCN1) supports vascular smooth muscle cell adhesion and stimulates chemotaxis through integrin a6β1 and cell surface heparan sulfate proteoglycans显示文摘 | Tatiana M Grzeszkiewicz Volkhard Lindner Ningyu Chen Stephen CT Lam Lester F | 2002 | Endocrinology2002，143，4： | 1 |
| 13 | Potential application of non-small cell lung cancer-associated autoantibodies to early cancer diagnosis显示文摘 | Yibing Yao Yu Fan Jun Wu Haisu Wan Jing Wang Stephen Lam Wan L. Lam Luc Girard Adi F. Gazdar Zhihao Wu Qinghua Zhou | 2012 | Biochemical and Biophysical Research Communications2012，，3： | 1 |
| 14 | Swidden Change in Southeast Asia: Understanding Causes and Consequences显示文摘 | Ole Mertz Christine Padoch Jefferson Fox R. A. Cramb Stephen J. Leisz Nguyen Thanh Lam Tran Duc Vien | 2009 | Human Ecology2009，，3： | 1 |
| 15 | Detection and Localization of Intraepithelial Neoplasia and Invasive Carcinoma Using Fluorescence-Reflectance Bronchoscopy: An International, Multicenter Clinical Trial显示文摘 | Eric Edell Stephen Lam Harvey Pass York E. Miller Thomas Sutedja Timothy Kennedy Gregory Loewen Robert L. Keith | 2009 | Journal of Thoracic Oncology2009，，1： | 1 |
| 16 | 超级高铁显示文摘BIG的创始合伙人比亚克评价说:'通过超级高铁,我们定义了一个由客舱和站门组成的交通出行生态系统。人们不必等车,也不再需要候车厅,超级高铁用接近超音速的速度将集体社会和个人自由联系在一起。在未来,这种崭新的出行方式将改变我们对时空的习惯认知,我们脑海中对城市版图的理解也将随之改变。' | Erik Berg Kreider Adi Krainer Ashton Stare Cheyenne Vandevoorde Cristian Lera Daniele Pronesti Derek Wong Domenic Schmid Evan Wiskup Francesca Portesine Hugo Soo Kristian Hindsberg Lam Le Nguyen Lasse Kristensen Linda Halim Maureen Rahman Ovidiu Munteanu Pei Pei Yang Ryan Duval Stephen Steckel Terrence Chew Thomas Christoffersen Tore Banke Veronica Moretti Yehezkiel Wiliardy 曲鸿(译) | 2019 | 城市环境设计2019，0，2： | 1 |
| 17 | Detection and localizationof intraepithelial neoplasia and invasive carcinoma using fluorescence-re- flectance bronchoscopy 显示文摘 | Eric Edell MD stephen Lam MD FCCP | 2009 | AM J Thorac Onco12009，4，1： | 1 |
| 18 | EZH2 Promotes E2F-Driven SCLC Tumorigenesis through Modulation of Apoptosis and Cell-Cycle Regulation显示文摘 | Roland Hubaux Kelsie L. Thu Bradley P. Coe Calum MacAulay Stephen Lam Wan L. Lam | 2013 | Journal of Thoracic Oncology2013，，8： | 1 |
| 19 | Large construction projects in developing countries: a case study from Vietnam显示文摘 | Nguyen Duy Long Stephen Ogunlana Truong Quang Ka Chi Lam | 2004 | International Journal of Project Management2004，，55： | 1 |
| 20 | Optical properties of normal and carcinomatous bronchial tissue显示文摘 | Jianan Qu Calum MacAulay Stephen Lam | 1994 | Applied optics1994，33，31： | 1 |
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