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| 1 | A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass显示文摘Osteoporosis is a highly heritable common bone disease leading to fractures that severely impair the life quality of patients.Wrist fractures caused by osteoporosis are largely due to the scarcity of wrist bone mass.Here we report the results of a genome-wide association study (GWAS) of wrist bone mineral density (BMD).We examined ~500000 SNP markers in 1000 unrelated homogeneous Caucasian subjects and found a novel allelic association with wrist BMD at rs11023787 in the SOX6 (SRY (sex determining region Y)-box 6) gene (P=9.00×10-5).Subjects carrying the C allele of rs11023787 in SOX6 had significantly higher mean wrist BMD values than those with the T allele (0.485:0.462 g cm-2 for C allele vs.T allele carriers).For validation,we performed SOX6 association for BMD in an independent Chinese sample and found that SNP rs11023787 was significantly associated with wrist BMD in the Chinese sample (P=6.41×10-3).Meta-analyses of the GWAS scan and the replication studies yielded P-values of 5.20×10-6 for rs11023787.Results of this study,together with the functional relevance of SOX6 in cartilage formation,support the SOX6 gene as an important gene for BMD variation. | Shawn LEVY | 2010 | Science China(Life Sciences)2010，53，9： | 5 |
| 2 | Mesenchymal VEGFA induces aberrant differentiation in heterotopic ossification显示文摘Heterotopic ossification(HO)is a debilitating condition characterized by the pathologic formation of ectopic bone.HO occurs commonly following orthopedic surgeries,burns,and neurologic injuries.While surgical excision may provide palliation,the procedure is often burdened with significant intra-operative blood loss due to a more robust contribution of blood supply to the pathologic bone than to native bone.Based on these clinical observations,we set out to examine the role of vascular signaling in HO.Vascular endothelial growth factor A(VEGFA)has previously been shown to be a crucial pro-angiogenic and pro-osteogenic cue during normal bone development and homeostasis.Our findings,using a validated mouse model of HO,demonstrate that HO lesions are highly vascular,and that VEGFA is critical to ectopic bone formation,despite lacking a contribution of endothelial cells within the developing anlagen. | Charles Hwang Simone Marini Amanda KHuber David MStepien Michael Sorkin Shawn Loder Chase APagani John Li Noelle DVisser Kaetlin Vasquez Mohamed AGarada Shuli Li Jiajia Xu Ching-Yun Hsu Paul BYu Aaron WJames Yuji Mishina Shailesh Agarwal Jun Li Benjamin Levi | 2019 | Bone Research2019，7，4： | 4 |
| 3 | 全基因组关联分析显示SOX6为影响腕部骨密度的候选基因显示文摘骨质疏松症是一种高度遗传且极易导致骨折的骨骼疾病,它严重损害患者的生活质量.因骨质疏松而导致的手腕骨折,很大程度是由于手腕部位的骨量低.本研究在1000个不相关的白人中采用Affymetix 500K芯片扫描了500000个SNPs,运用全基因组关联分析(GWAS),发现SOX6为影响手腕骨密度的一个新的基因,SOX6基因中rs11023787与手腕部骨密度关联,P值为9.00×10-5.SOX6基因中,rs11023787 C等位基因携带者的手腕骨密度显著高于T等位基因携带者(C等位基因vs.T等位基因携带者:0.485g/cm2vs.0.462g/cm2).为进一步验证该结果,在中国人群中检测了SOX6基因与骨密度的关联并发现,rs11023787与手腕骨密度显著关联(P=6.41×10-3).对GWAS与验证结果进行荟萃分析,得到联合P值为5.20×10-6,SOX6基因参与软骨形成过程.本结果提示,SOX6基因是影响骨密度变异的重要基因. | 谭丽君 刘荣 雷署丰 潘蓉 杨铁林 阎函 培育芳 杨芳 张峰 潘峰 张银萍 LEVY Shawn 邓红文 | 2010 | 中国科学:生命科学2010，40，8： | 3 |
| 4 | The Pan-ErbB Negative Regulator Lrig1 Is an Intestinal Stem Cell Marker that Functions as a Tumor Suppressor显示文摘 | Anne E. Powell Yang Wang Yina Li Emily J. Poulin Anna L. Means Mary K. Washington James N. Higginbotham Alwin Juchheim Nripesh Prasad Shawn E. Levy Yan Guo Yu Shyr Bruce J. Aronow Kevin M. Haigis Jeffrey L. Franklin Robert J. Coffey | 2012 | Cell2012，，1： | 2 |
| 5 | Histologic and Imaging Features of Mural Nodules in Mucinous Pancreatic Cysts显示文摘 | Ning Zhong Lizhi Zhang Naoki Takahashi Vladislav Shalmiyev Marcia Irene Canto Jonathan E. Clain John C. Deutsch John DeWitt Mohamad A. Eloubeidi Ferga C. Gleeson Michael J. Levy Shawn Mallery Massimo Raimondo Elizabeth Rajan Tyler Stevens Mark Topazian | 2012 | Clinical Gastroenterology and Hepatology2012，，2： | 2 |
| 6 | ANKRD7 and CYTL1 are novel risk genes for alcohol drinking behavior显示文摘 | CHEN Xiang-ding XIONG Dong-hai YANG Tie-lin PEI Yu-fang GUO Yan-fang LI Jian YANG Fang PAN Feng TAN Li-jun YAN Han LIU Xiao-gang LEI Shu-feng LI Xi NING Ling-ling ZHU Xue-zhen Shawn Levy Henry R. Kranzler Lindsay A. Farrer Joel Gelernter Robert R. Recker DENG Hong-wen | 2012 | Chinese Medical Journal2012，，6： | 1 |
| 7 | Genomics and proteomics:Emerging technologies in clinical cancer research显示文摘 | Christine H.Chunga Shawn Levy Pierre Chaurand | | 0，，： | 1 |
| 8 | 白介素-33至白介素-13信号级联调节小鼠胃组织上皮化生显示文摘目的选择性活化巨噬细胞 (Alternativelyactivated macrophages, M2)与胃部解痉多肽表达性化生(spasmolytic polypeptide-expressingmetaplasia, SPEM) 过程相关。然而,诱导SPEM的确切机制及关键介质尚不明确。研究设计为确定这一过程中的关键基因,分离胃部SPEM小鼠(DMP-777处理)及高级胃部SPEM小鼠(L635处理)胃体的巨噬细胞进行RNA测序。评估白介素.33、白介素-33受体(ST2)及白介素-13基因敲除小鼠,经L635处理急性壁细胞缺失后对上皮细胞化生过程的影响。结果胃部上皮化生相关性巨噬细胞中可鉴定出M2极化亚群。高级胃部SPEM小鼠巨噬细胞中自介素-33的表达显著上调。L635可在野生型小鼠胃组织中诱导上皮化生,但在白介素-33及白介素.33受体敲除鼠中未观察到这一现象。尽管在诱导上皮化生过程中不需白介素.5及白介素-9,白介素-13基因敲除小鼠无法在L635诱导下发生上皮化生。对白介素-33受体基因敲除小鼠应用白介素-13,可重新诱导急性壁细胞缺失后的上皮化生。结论壁细胞缺失后上皮化生及巨噬细胞极化过程通过白介素.33及白介素-13的细胞信号网络协调进行,将损伤应答过程中固有黏膜机制及M2浸润联系起来。 | Christine P Petersen Anne R Meyer Carlo De Salvo Eunyoung Choi Cameron Schlegel Alec Petersen Amy C Engevik Nripesh Prasad Shawn E Levy R Stokes Peebles Theresa T Pizarro James R Goldenring 李佳宁(译) 吴东(校) | 2018 | 英国医学杂志中文版2018，21，7： | 0 |
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