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| 1 | 108例视网膜母细胞瘤Rb基因突变的特征显示文摘目的:研究RB患者肿瘤及体细胞内Rb基因的存在状态、细微结构、Rb基因突变的特征、起源与传递。方法:DNA分子杂交、SSCP分析、DNA序列测定。结果:108例RB肿瘤标本中80例(74%)存在Rb基因点突变,其中44例为纯合型,20例有二个独立发生的杂合型点突变,16例只检出一个杂合型点突变。通过对比分析RB患者肿瘤与白细胞DNA、RB患者家庭成员白细胞DNARb基因的结构,揭示了Rb基因点突变的起源与遗传特征。结论:Rb基因是与RB肿瘤形成关系最为密切的基因。RB肿瘤发生需二次突变事件导致Rb基因的二个等位基因失活,第一次突变事件突出表现为点突变;第二次突变事件主要是LOH。 | 黄倩 Thaddeus P.Dryja David W.Yandell | 1997 | 中华眼底病杂志1997，13，1： | 6 |
| 2 | Immunogenetic factors driving formation of ultralong VH CDR3 in Bos taurus antibodies显示文摘The antibody repertoire of Bos taurus is characterized by a subset of variable heavy(VH)chain regions with ultralong third complementarity determining regions(CDR3)which,compared to other species,can provide a potent response to challenging antigens like HIV env.These unusual CDR3 can range to over seventy highly diverse amino acids in length and form uniqueβ-ribbon‘stalk’and disulfide bonded‘knob’structures,far from the typical antigen binding site.The genetic components and processes for forming these unusual cattle antibody VH CDR3 are not well understood.Here we analyze sequences of Bos taurus antibody VH domains and find that the subset with ultralong CDR3 exclusively uses a single variable gene,IGHV1-7(VHBUL)rearranged to the longest diversity gene,IGHD8-2.An eight nucleotide duplication at the 3′end of IGHV1-7 encodes a longer V-region producing an extended Fβ-strand that contributes to the stalk in a rearranged CDR3.A low amino acid variability was observed in CDR1 and CDR2,suggesting that antigen binding for this subset most likely only depends on the CDR3.Importantly a novel,potentially AID mediated,deletional diversification mechanism of the B.taurus VH ultralong CDR3 knob was discovered,in which interior codons of the IGHD8-2 region are removed while maintaining integral structural components of the knob and descending strand of the stalk in place.These deletions serve to further diversify cysteine positions,and thus disulfide bonded loops.Hence,both germline and somatic genetic factors and processes appear to be involved in diversification of this structurally unusual cattle VH ultralong CDR3 repertoire. | Thaddeus C Deiss Melissa Vadnais Feng Wang Patricia L Chen Ali Torkamani Waithaka Mwangi Marie-Paule Lefranc Michael F Criscitiello Vaughn V Smider | 2019 | Cellular & Molecular Immunology2019，16，1： | 4 |
| 3 | 三个Rb基因突变嵌合体家系分子遗传学分析显示文摘目的:遗传型RB是一种单基因疾病,由定位在13q14的Rb基因突变所致。大多数遗传性RB表现出典型的孟德尔常染色体显性遗传特征。作者分析三个遗传性RB家系RB外显不全及表型传递规律变异的原因。方法:RFLPs和VNTRs作单体型分析,SSCP及直接DNA序列分析检测Rb基因点突变。结果:Rb基因突变嵌合体是造成某些Rb基因突变携带者不发病以及家庭成员中RB表型遗传不符合孟德尔规则的重要原因之一。结论:直接检测致病性的Rb基因突变才能准确判断携带者,估计患病风险。 | 黄倩 Thaddeus P. Dryja David W. Yandell | 1996 | 中华眼底病杂志1996，12，1： | 3 |
| 4 | RB患者及家庭成员Rb基因突变和患病风险的基因诊断及遗传咨询显示文摘目的建立Rb基因突变的基因诊断方法,正确估计视网膜母细胞瘤(RB)患者的预后及其家庭成员的患病风险。方法综合利用Southernblot杂交、SSCP分析、直接DNA序列测定等多种分子生物学技术作染色体单体型分析及Rb基因点突变的直接检测。结果79个有Rb基因突变的RB家系中25例先证者仅查出体细胞起源的Rb基因突变,其余54例存在生殖细胞起源的Rb基因突变,其中36例突变是新产生的,15例突变由亲代遗传而来,此外,尚有3例Rb基因突变嵌合体。结论直接检测Rb基因点突变可不依赖于患者家庭成员RB发病情况的遗传背景资料诊断患者是否属于遗传型,正确估计患者的预后;并能在肿瘤发生前甚至产前检出Rb基因突变携带者。 | 黄倩 Thaddeus P.Dryja DavidW.YandeLl | 1998 | 中华医学遗传学杂志1998，15，2： | 3 |
| 5 | Retinitis pigmentosa显示文摘 | Dyonne T Hartong Eliot L Berson Thaddeus P Dryja | 2006 | The Lancet2006，，9549： | 2 |
| 6 | Production of raw-starch-hydrolysing α-amylase from the newly isolated Geobacillus thermodenitrificans HRO10显示文摘 | Thaddeus C. Ezeji Hubert Bahl | 2007 | World Journal of Microbiology and Biotechnology2007，，9： | 2 |
| 7 | Hepatocyte-Specific Deletion of SIRT1 Alters Fatty Acid Metabolism and Results in Hepatic Steatosis and Inflammation显示文摘 | Aparna Purushotham Thaddeus T. Schug Qing Xu Sailesh Surapureddi Xiumei Guo Xiaoling Li | 2009 | Cell Metabolism2009，，4： | 2 |
| 8 | Selective, reversible occlusion of the middle cerebral artery in rats by an intraluminal approach显示文摘 | Jianya Ma Liang Zhao Thaddeus S. Nowak | 2006 | Journal of Neuroscience Methods2006，，1： | 2 |
| 9 | Sensor networks for emergency response : Challenges and opportunities 显示文摘 | Konrad Lorincz David J Malan Thaddeus Fulford-Jones Alan Nawoj Antony Clavel Victor Shnayder Geoffrey Mainland Matt Welsh Steve Moulton | 2004 | IEEE Pervasive Computing2004，3，4： | 1 |
| 10 | Restricting CPR to patients who provide informed consent will not permit physicians to u- nilaterally refuse requested CPR显示文摘 | Thaddeus Mason Pope | 2010 | The American Jour- nal of bioethics2010，10，1： | 1 |
| 11 | A point mutation of the rhodopsin gene in one form of retinitis pigmentosa显示文摘 | Thaddeus PD Terri LM Elias Reichel | 1990 | Nature1990，25，34： | 1 |
| 12 | Achievements and perspectives to overcome the poor solvent resistance in acetone and butanol-producing microorganisms显示文摘 | Thaddeus Ezeji Caroline Milne Nathan D. Price Hans P. Blaschek | 2010 | Applied Microbiology and Biotechnology2010，，6： | 1 |
| 13 | Quality of reclaimed waters:a public health need for source tracking of wastewater-derived protozoan enteropathogens in engineered wetlands显示文摘 | Thaddeus K Graczyk T K Lucy F E | 2007 | Transactions of the Royal Society of Tropical Medicine and Hygiene2007，101，6： | 1 |
| 14 | Composition of corn dry-grind ethanol by-products: DDGS, wet cake, and thin stillage显示文摘 | Youngmi Kim Nathan S. Mosier Rick Hendrickson Thaddeus Ezeji Hans Blaschek Bruce Dien Michael Cotta Bruce Dale Michael R. Ladisch | 2007 | Bioresource Technology2007，，： | 1 |
| 15 | Linear Transformations and the K-Means Clustering Algorithm:Applications to Clustering Curves显示文摘 | Thaddeus Tarpey | 2007 | The American Statistician2007，61，1： | 1 |
| 16 | Pharmacokinetic/pharmacodynamic modeling and simulation of neutropenia during phase I development of liposomeentrapped pachtaxel 显示文摘 | GERALD J F THADDEUS H G JEFFREY W S | 2008 | Clin Cancer Res2008，14，18： | 1 |
| 17 | Expression of heat shock protein,HSP72 ,in theguinea pig and rat cochlea after hyperthermia:immunochemical and in situ hybridizationanalysis显示文摘 | 3,Dechesne CJ Kim HN Thaddeus S | 1992 | Hear Res1992，59，： | 1 |
| 18 | Self-Consistency: A Fundamental Concept in Statistics 显示文摘 | Thaddeus T Bernard F | 1996 | Statistical Science1996，11，： | 1 |
| 19 | Feature-based image metamorphosis显示文摘 | Thaddeus Beier Shawn Neely | 1992 | ACM SIGGRAPH Computer Graphics1992，，2： | 1 |
| 20 | Carbon chains and the diffuse interstellar bands显示文摘 | Thaddeus P | 1998 | Astrophysics1998，202，： | 1 |
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