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| 1 | 中国人群遗传性耳聋研究进展显示文摘耳聋有着复杂的病因学特点,遗传和/或环境因素均可致聋。120多个耳聋相关基因的发现为我们了解听觉的病理生理机制提供了新的视点。然而,最近的研究表明在中国相当一部分综合征性和非综合征性耳聋仅由为数不多的几个基因突变引起。本文旨在综述综合征性、非综合征性及线粒体遗传性聋在中国人群感音神经性聋致病机制方面的最新进展。深入了解中国人群耳聋分子病因学特点,对获得准确的耳聋早期诊断和遗传咨询,以便及时干预和治疗至关重要。 | 刘学忠 欧阳小梅 Denise Yan 袁永一 袁慧军 | 2006 | 中华耳科学杂志2006，4，2： | 81 |
| 2 | The genetic basis of deafness in populations of African descent显示文摘Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide. | Jason R.Rudman Rosemary I.Kabahuma Sara E.Bressler Yong Feng Susan H.Blanton Denise Yan Xue-Zhong Liu | 2017 | Journal of Genetics and Genomics2017，44，6： | 7 |
| 3 | Immunity Genes and Susceptibility to Otitis Media:A Comprehensive Review显示文摘Otitis media(OM) is a middle ear infection associated with inflammation and pain.This disease frequently afflicts humans and is the major cause of hearing loss worldwide.OM continues to be one of the most challenging diseases in the medical field due to its diverse host targets and wide range of clinical manifestations.Substantial morbidity associated with OM is further exacerbated by high frequency of recurrent infections leading to chronic suppurative otitis media(CSOM).Children have greater susceptibility to,and thus,suffer most frequently from OM,which can cause significant deterioration in quality of life.Genetic factors have been demonstrated,in large part by twin and family studies,to be key determinants of OM susceptibility.In this review,we summarize the current knowledge on immunity genes and selected variants that have been associated with predisposition to OM.In particular,polymorphisms in innate immunity and cytokine genes have been strongly linked with the risk of developing OM.Future studies employing state-of-the-art technologies,including next-generation sequencing(NGS),will aid in the identification of novel genes associated with susceptibility to OM.This,in turn,will open up avenues for identifying high-risk individuals and designing novel therapeutic strategies based on precise targeting of these genes. | Rahul Mittal Giannina Robalino Robert Gerring Brandon Chan Denise Yan M'hamed Grati Xue-Zhong Liu | 2014 | Journal of Genetics and Genomics2014，41，11： | 5 |
| 4 | Mechanisms of Atrial Tachyarrhythmias Associated With Coronary Artery Occlusion in a Chronic Canine Model显示文摘 | Kunihiro Nishida Xiao Yan Qi Reza Wakili Philippe Comtois Denis Chartier Masahide Harada Yu-ki Iwasaki Philippe Romeo Ange Maguy Dobromir Dobrev Georghia Michael Mario Talajic Stanley Nattel | 2011 | Circulation2011，，2： | 2 |
| 5 | Electrophysiology and genetic testing in the precision medicine of congenital deafness:A review显示文摘Background:Congenital hearing loss is remarkably heterogeneous,with over 130 deafness genes and thousands of variants,making for innumerable genotype/phenotype combinations.Understanding both the pathophysiology of hearing loss and molecular site of lesion along the auditory pathway permits for significantly individualized counseling.Electrophysiologic techniques such as electrocochleography(ECochG)and electrically-evoked compound action potentials(eCAP)are being studied to localize pathology and estimate residual cochlear vs.neural health.This review describes the expanding roles of genetic and electrophysiologic evaluation in the precision medicine of congenital hearing loss.The basics of genetic mutations in hearing loss and electrophysiologic testing(ECochG and eCAP)are reviewed,and how they complement each other in the diagnostics and prognostication of hearing outcomes.Used together,these measures improve the understanding of insults to the auditory system,allowing for individualized counseling for CI candidacy/outcomes or other habilitation strategies.Conclusion:Despite tremendous discovery in deafness genes,the effects of individual genes on neural function remain poorly understood.Bridging the understanding between molecular genotype and neural and functional phenotype is paramount to interpreting genetic results in clinical practice.The future hearing healthcare provider must consolidate an ever-increasing amount of genetic and phenotypic information in the precision medicine of hearing loss. | Kevin Y.Zhan Oliver F.Adunka Adrien Eshraghi William J.Riggs Sandra M.Prentiss Denise Yan Fred F.Telischi Xuezhong Liu Shuman He | 2021 | Journal of Otology2021，16，1： | 2 |
| 6 | Cell survival, DNA damage, and oncogenic transformation after a transient and reversible apoptotic response显示文摘 | Ho Lam Tang Ho Man Tang Keng Hou Mak Shaomin Hu Shan Shan Wang Kit Man Wong Chung Sing Timothy Wong Hoi Yan Wu Hiu Tung Law Kan Liu C. Conover Talbot Wan Keung Lau Denise J. Montell Ming Chiu Fung | 2012 | Molecular Biology of the Cell2012，，12： | 1 |
| 7 | Has the ClOpidogrel and Metoprolol in Myocardial Infarction Trial (COMMIT) of early β-blocker use in acute coronary syndromes impacted on clinical practice in Canada? Insights from the Global Registry of Acute Coronary Events (GRACE)显示文摘 | Jeremy Edwards Shaun G. Goodman Raymond T. Yan Robert C. Welsh Jan M. Kornder J. Paul DeYoung Denis Chauret Jean-Pierre Picard Kim A. Eagle Andrew T. Yan | 2011 | American Heart Journal2011，，： | 1 |
| 8 | Poly(vinylidene fluoride-co-hexafluoropropylene)/poly(methylmethacrylate)/nanoclay composite gel polymer electrolyte for lithium/sulfur batteries显示文摘 | Yongguang Zhang Yan Zhao Zhumabay Bakenov Denise Gosselink P. Chen | 2014 | Journal of Solid State Electrochemistry2014，，4： | 1 |
| 9 | One-pot approach to synthesize PPy@S core–shell nanocomposite cathode for Li/S batteries显示文摘 | Yongguang Zhang Yan Zhao Aishuak Konarov Denise Gosselink Zhi Li Mahmoudreza Ghaznavi P. Chen | 2013 | Journal of Nanoparticle Research2013，，10： | 1 |
| 10 | A novel nano-sulfur/polypyrrole/graphene nanocomposite cathode with a dual-layered structure for lithium rechargeable batteries显示文摘 | Yongguang Zhang Yan Zhao Aishuak Konarov Denise Gosselink Hayden Greentree Soboleski P. Chen | 2013 | Journal of Power Sources2013，，： | 1 |
| 11 | A novel sulfur/polypyrrole/multi-walled carbon nanotube nanocomposite cathode with core–shell tubular structure for lithium rechargeable batteries显示文摘 | Yongguang Zhang Yan Zhao The Nam Long Doan Aishuak Konarov Denise Gosselink Hayden Greentree Soboleski P. Chen | 2013 | Solid State Ionics2013，，： | 1 |
| 12 | Population Pharmacokinetic Analysis From Phase I and Phase II Studies of The Humanized Monovalent Antibody, Onartuzumab (MetMAb), in Patients With Advanced Solid Tumors显示文摘 | Yan Xin Denise Jin Stephen Eppler Lisa A. Damico-Beyer Amita Joshi John D. Davis Surinder Kaur Ihsan Nijem John Bothos Amy Peterson Premal Patel Shuang Bai | 2013 | Journal of Clinical Pharmacology2013，，11： | 1 |
| 13 | Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise显示文摘 | Denise Yan Yan Zhu Tom Walsh | 2013 | PNAS2013，110，： | 1 |
| 14 | The Genetic Deafness in Chinese Population显示文摘Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in Chinese population are caused by a small number of mutations. This review is focused on syndromic and nonsyndromic deafness as well as on the latest information linking inherited mitochondrial pathologies to a variety of etiologies of sensorineural deafness in Chinese population. Better understanding of the genetic causes of deafness in Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options. | Denise Yan | 2006 | Journal of Otology2006，1，1： | 0 |
| 15 | PRPS1基因功能缺失性突变导致X-连锁非综合征性DFN2型耳聋显示文摘本文报道了一个X连锁非综合征型语后聋的中国家系,该家系的致聋基因定位于X染色体一个遗传间距为5.41cM、物理距离为15.1Mb的区域,与已知的DFN2位点重叠。对此家系及以前报道的3个国内外DFN2家系进行PRPS1基因突变筛查,鉴定出PRPS1基因的4种不同错义突变。通过对酶分子结构的分析,及来自于患者的红细胞和成纤维细胞的体外酶活性测定,证实这些突变可导致磷酸核糖焦磷酸(PRPP)合成酶1活性下降。通过原位杂交,我们证实Prps1在小鼠的前庭和耳蜗毛细胞中皆有表达,并且在毛细胞中持续表达,出生后在螺旋神经节中仍有表达。PRPS1作为第二个X染色体上发现的非综合征型耳聋基因,是进行X连锁遗传性聋基因诊断很好的候选基因。 | 韩冰 李建忠 程静 金占国 李旭 王幼勤 Maria Bitner-Glindzicz 孔祥银 许恒 Albena Kantardzhieva Roland D Eavey Christine E Seidman Jonathan G Seidman 陈正一 戴朴 滕脉坤 Denise Yan 刘学忠 袁慧军 韩东一 | 2010 | 中华耳科学杂志2010，8，1： | 0 |
| 16 | HM30181A,a potent P-glycoprotein inhibitor,potentiates the absorption and in vivo antitumor efficacy of paclitaxel in an orthotopic brain tumor model显示文摘Objective:Delivery of chemotherapeutic drugs to the brain has remained a major obstacle in the treatment of glioma,owing to the presence of the blood-brain barrier and the activity of P-gp,which pumps its substrate back into the systemic circulation.The aim of the present study was to develop an intravenous formulation of HM30181 A(HM)to inhibit P-gp in the brain to effectively deliver paclitaxel(PTX)for the treatment of malignant glioma.Methods:Two formulations of solubilized HM were designed on the basis of different solid dispersion strategies:i)spray-drying[polyvinlypyrrolidone(PVP)-HM]and ii)solvent evaporation[HP-β-cyclodextrin(cyclodextrin)-HM].The P-gp inhibition of these 2 formulations was assessed on the basis of rhodamine 123 uptake in cancer cells.Blood and brain pharmacokinetic parameters were also determined,and the antitumor effect of cyclodextrin-HM with PTX was evaluated in an orthotopic glioma xenograft mouse model.Results:Although both PVP-HM and cyclodextrin-HM formulations showed promising P-gp inhibition activity in vitro,cyclodextrin-HM had a higher maximum tolerated dose in mice than did PVP-HM.Pharmacokinetic study of cyclodextrin-HM revealed a plasma concentration plateau at 20 mg/kg,and the mice began to lose weight at doses above this level.Cyclodextrin-HM(10 mg/kg)administered with PTX at 10 mg/kg showed optimal antitumor activity in a mouse model,according to both tumor volume measurement and survival time(P<0.05).Conclusions:In a mouse orthotopic brain tumor model,the intravenous co-administration of cyclodextrin-HM with PTX showed potent antitumor effects and therefore may have potential for glioma therapy in humans. | Wu Zeng Betty Yuen Kwan Law Vincent Kam Wai Wong Denise So Bik Chan Simon Wing Fai Mok Joyce Jia Ying Gao Rebecca Ka Yan Ho Xu Liang Jia Hao Li Ming Tsung Lee Weng Li Yoon Michael P Smolinski Johnson Yiu Nam Lau Christopher Wai Kei Lam Manson Fok | 2020 | Cancer Biology & Medicine2020，17，4： | 0 |
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