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| 1 | Genetic testing in congenital heart disease:A clinical approach显示文摘Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. | Marie A Chaix Gregor Andelfinger Paul Khairy | 2016 | World Journal of Cardiology2016，8，2： | 8 |
| 2 | 儿童原发性限制型心肌病三例的临床特征及遗传分析显示文摘目的研究3例儿童原发性限制型心肌病( restrictive cardiomyopathy, RCM)的临床特征及心肌病理改变,并进行心肌肌节蛋白基因突变分析,以期发现遗传致病基础。方法采集和分析3例RCM患儿及其父母的临床资料。同时选择100名健康儿童作为正常对照。病例1和病例2接受心肌活检,标本行常规组织学和电镜检查。聚合酶链式反应(PCR)扩增RCM患儿肌钙蛋白I、肌钙蛋白T、β肌球蛋白重链、肌动蛋白基因编码外显子及附近上下游序列,直接双向测序并进行分析。如发现突变,则进一步检测该突变在患儿父母及正常对照儿童中的分布情况。结果3例患儿病情呈进行性加重。病例1合并小型膜周部室间隔缺损,病例2合并室间隔中下段轻度肥厚。组织学检查提示病例1存在广泛的心肌细胞排列紊乱和轻度纤维化,电镜显示肌节数量减少,线粒体显著增大变形;病例2心肌细胞轻度肥厚和间质纤维化,电镜检查显示z线排列紊乱,间距不规则。遗传分析分别在病例1和病例3中发现了肌钙蛋白I基因R204H、R192H杂合突变,在病例2中发现了肌钙蛋白T基因100—101delNE杂合突变,所有突变所在蛋白序列均高度保守。所有突变只出现在患儿,而父母及100名正常对照儿童中均未检测到相同突变。结论3例RCM患儿确诊后病情均进展迅速。3例患儿进行遗传分析均发现了致病突变,其中2个为肌钙蛋白I基因突变,1个为肌钙蛋白T基因突变。研究结果有助于加深对儿童原发性RCM发病机制的认识。 | 杨世伟 陈彦 李军 殷杰 秦玉明 Gregor Andelfinger 汪道武 曹克将 | 2013 | 中华心血管病杂志2013，41，4： | 6 |
| 3 | Bicuspid aortic valve is heritable显示文摘 | Linda Cripe Gregor Andelfinger Lisa J. Martin Kerry Shooner D.Woodrow Benson | 2004 | Journal of the American College of Cardiology2004，，： | 1 |
| 4 | KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes显示文摘 | Gregor Andelfinger Andrew R. Tapper Richard C. Welch Carlos G. Vanoye Alfred L. George D. Woodrow Benson | 2002 | The American Journal of Human Genetics2002，，： | 1 |
| 5 | AB040.Single-cell transcriptomics identifies cell-specific signatures of pathological angiogenesis显示文摘Background:To treat vascular proliferative diseases,anti-VEGF therapies have shown systemic adverse effects attributable to the lack of selectivity between pathological and physiological angiogenesis.Thus,identifying the molecular mechanisms that are only specific to pathological cell types is crucial to develop better precision medicine.Methods:Here,we used different cell type enrichment approaches combined with single-cell RNA sequencing to define the transcriptomic changes within each retinal cell types in a mouse model of ischemic retinopathy.This retinal model develops pathological neovascularization(NV)in response to local hypoxia following oxygen-induced vessel obliteration(P7 to P12).The NV phenotype is characterized by the progressive appearance of vascular tufts resulting from misguided,abnormal proliferation of endothelial cells that we monitored at 3 consecutive time points-P12,P14 and P17(peak of NV).Results:By following the dynamic response to hypoxia,our experimental design reveals how pathological angiogenesis is specifically associated with significant metabolic adaptations in different subtypes of endothelial cells(i.e.,Tips vs Stalk cells).We also identify a pathological subtype of glial cells over-expressing VEGFA and pro-inflammatory IL-1 receptor subunits.This subtype of activated glial cells was targeted using selective IL1R antagonist treatment which reduced glial activation,inflammation,NV and promotes physiological angiogenesis,therefore improving tissue regeneration.Conclusions:Our results illustrate how analyzing cell type heterogeneity in tissues developing pathological angiogenesis allows establishing better targeting therapies to restore vascular integrity. | Gael Cagnone Sheetal Pundir Nick Kim Emilie Heckel Jin Sung Kim Perrine Gaub Florian Wunnemann Piet van Vliet Severine Leclerc Gregor Andelfinger Sylvain Chemtob Jean-Sebastien Joyal | 2019 | Annals of Eye Science2019，，1： | 0 |
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