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| 1 | Diabetes mellitus: The epidemic of the century显示文摘The epidemic nature of diabetes mellitus in different regions is reviewed. The Middle East and North Africa region has the highest prevalence of diabetes in adults(10.9%) whereas, the Western Pacific region has the highest number of adults diagnosed with diabetes and has countries with the highest prevalence of diabetes(37.5%). Different classes of diabetes mellitus, type 1, type 2, gestational diabetes and other types of diabetes mellitus are compared in terms of diagnostic criteria, etiology and genetics. The molecular genetics of diabetes received extensive attention in recent years by many prominent investigators and research groups in the biomedical field. A large array of mutations and single nucleotide polymorphisms in genes that play a role in the various steps and pathways involved in glucose metabolism and the development, control and function of pancreatic cells at various levels are reviewed. The major advances in the molecular understanding of diabetes in relation to the different types of diabetes in comparison to the previous understanding in this field are briefly reviewed here. Despite the accumulation of extensive data at the molecular and cellular levels, the mechanism of diabetes development and complications are still not fully understood. Definitely, more extensive research is needed in this field that will eventually reflect on the ultimate objective to improve diagnoses, therapy and minimize the chance of chronic complications development. | Akram T Kharroubi Hisham M Darwish | 2015 | World Journal of Diabetes2015，6，6： | 53 |
| 2 | Bone Morphogenetic Protein (BMP) signaling in development and human diseases显示文摘Bone Morphogenetic Proteins(BMPs)are a group of signaling molecules that belongs to the Transforming Growth Factor-b(TGF-b)superfamily of proteins.Initially discovered for their ability to induce bone formation,BMPs are now known to play crucial roles in all organ systems.BMPs are important in embryogenesis and development,and also in maintenance of adult tissue homeostasis.Mouse knockout models of various components of the BMP signaling pathway result in embryonic lethality or marked defects,highlighting the essential functions of BMPs.In this review,we first outline the basic aspects of BMP signaling and then focus on genetically manipulated mouse knockout models that have helped elucidate the role of BMPs in development.A significant portion of this review is devoted to the prominent human pathologies associated with dysregulated BMP signaling. | Richard N.Wang Jordan Green Zhongliang Wang Youlin Deng Min Qiao Michael Peabody Qian Zhang Jixing Ye Zhengjian Yan Sahitya Denduluri Olumuyiwa Idowu Melissa Li Christine Shen Alan Hu Rex C.Haydon Richard Kang James Mok Michael J.Lee Hue L.Luu Lewis L.Shi | 2014 | Genes & Diseases2014，1，1： | 47 |
| 3 | Expression,deleton and mnutation of ρ16 gene in human gastric cancer显示文摘AIM To investigate the relationship between the expression of p16 gene and the gastric carcinogenesis,depth of invasion and lymph node metastases, and to evaluate the deletion and mutation of exon 2 in p16 gene in gastric carcinoma.METHODS The expression of P16 protein was examined by streptavidin-peroxidase conjugated method (S-P); the deletion and mutation of p16 gene were respectively examined by polymerase chain reaction (PCR) and polymerase chain reaction single-strand conformation polymorphism analysis (PCR-SSCP) in gastric carcinoma.RESULTS Expression of P16 protein was detected in 96.25% (77/80) of the normal gastric mucosa, in 92.00% (45/50) of the dysplastic gastric mucosa and in 47.54% (58/122) of the gastric carcinoma. The positive rate of P16 protein expression in gastric carcinoma was significantly lower than that in normal gastric mucosa and dysplastic gastric mucosa (P<0.05). The positive rate of P16 protein expression in mucoid carcinoma 10.00% (1/ 10) was significantly lower than that in poorly differentiated carcinoma 51.22% ( 21/ 41 ),undifferentiated carcinoma 57.69% (15/26) and signet ring cell carcinoma 62.50% (10/ 16) (P<0.05). The positive rate of p16 protein in 30 cases paired primary and lymph node metastatic gastric carcinoma: There was 46.67% (14/30) in primary gastric carcinoma, 16.67% (5/30) in lymph node metastatic gastric carcinoma. The positive rate of lymph node metastatic carcinoma was significantly lower than that of primary carcinoma (P<0.05). There was of p16 gene mutation in exon 2, but 5 cases displayed deletion of p16 gene in exon 2 in the 25 primary gastric carcinomas.CONCLUSIONS The expression loss of P16 protein related to the gastric carcinogenesis, gastric carcinoma histopathological subtypes and lymph metastasis. The mutation of p16 gene in exon 2 may not be involved in gastric carcinogenesis. But the deletion of p16 gene in exon 2 may be involved in gastric carcinogenesis. | Xiu-Sheng He Qi Su Zhu-Chu Chen Xiu-Tao He Zhi-Feng Long Hui Ling Liang-Run Zhang Oncology Institute,Nanhua University,Hengyang 421001,Hunan Province,ChinaOncology Institute,Center South University,Changsha 410078,Hunan Province,China Department of Gastroenterology,First People’s Hospital of Changde City,Changde 415003,Hunan Province,China | 2001 | World Journal of Gastroenterology2001，7，4： | 40 |
| 4 | Nonalcoholic fatty liver disease: Evolving paradigms显示文摘In the last years new evidence has accumulated on nonalcoholic fatty liver disease(NAFLD)challenging the paradigms that had been holding the scene over the previous 30 years.NAFLD has such an epidemic prevalence as to make it impossible to screen general population looking for NAFLD cases.Conversely,focusing on those cohorts of individuals exposed to the highest risk of NAFLD could be a more rational approach.NAFLD,which can be diagnosed with either non-invasive strategies or through liver biopsy,is a pathogenically complex and clinically heterogeneous disease.The existence of metabolic as opposed to genetic-associated disease,notably including'lean NAFLD'has recently been recognized.Moreover,NAFLD is a systemic condition,featuring metabolic,cardiovascular and(hepatic/extrahepatic)cancer risk.Among the clinico-laboratory features of NAFLD we discuss hyperuricemia,insulin resistance,atherosclerosis,gallstones,psoriasis and selected endocrine derangements.NAFLD is a precursor of type 2 diabetes(T2D)and metabolic syndrome and progressive liver disease develops in T2D patients in whom the course of disease is worsened by NAFLD.Finally,lifestyle changes and drug treatment options to be implemented in the individual patient are also critically discussed.In conclusion,this review emphasizes the new concepts on clinical and pathogenic heterogeneity of NAFLD,a systemic disorder with a multifactorial pathogenesis and protean clinical manifestations.It is highly prevalent in certain cohorts of individuals who are thus potentially amenable to selective screening strategies,intensive follow-up schedules for early identification of liver-related and extrahepatic complications and in whom earlier and more aggressive treatment schedules should be carried out whenever possible. | Amedeo Lonardo Fabio Nascimbeni Mauro Maurantonio Alessandra Marrazzo Luca Rinaldi Luigi Elio Adinolfi | 2017 | World Journal of Gastroenterology2017，23，36： | 33 |
| 5 | Epidemiology, genetics and treatments for myopia显示文摘· Myopia is a significant public health problem and its prevalence is increasing over time and genetic factors in disease development are important. The prevalence and incidence of myopia within sampled population often varies with age, country, sex, race, ethnicity, occupation, environment, and other factors. Myopia growth is under a combination of genes and their products in time and space to complete the coordination role of the guidance. Myopia-related genes include about 70 genetic loci to which primary myopias have been mapped, although the number is constantly increasing and depends to some extent on definition. Of these, several are associated with additional abnormalities, mostly as part of developmental syndromes. These tend to result from mutations in genes encoding transcriptional activators, and most of these have been identified by sequencing candidate genes in patients with developmental anomalies. Currently, collagen alpha-1 chain of type I(COL1A1), collagen alpha-1 chain of type II(COL2A1), actin, alpha, cardiac muscle 1(ACTC1), paired box gene 6(PAX6) and NIPBL (nipped-B homolog), and so on have been mapped. Myopia is most commonly treated with spectacles or glasses. The most common surgical procedure performed to correct myopia is laser keratomileusis (LASIK). This review of the recent advances on epidemiology, genetic locations and treatments of myopia are summarized. · | Lei Yu, Chang-Tai Xu | 2011 | International Journal of Ophthalmology(English edition)2011，4，6： | 27 |
| 6 | Research progress on plant tolerance to soil salinity and alkalinity in sorghum显示文摘Sorghum is an important source of food, feed and raw material for brewing, and is expected to be a promising bioenergy crop. Sorghum is well known for its strong resistance to abiotic stress and wide adaptability, and salt tolerance is one of its main characteristics. Increasing sorghum planting acreage on saline-alkalien land is one way to effectively use this kind of marginal soil. In this paper, domestic and overseas research on plant tolerance to soil salinity and alkalinity in sorghum, including salt-tolerant genetics and breeding, physiology, cultivation, and identification of tolerant germplasms, are reviewed. Suggestions for further studies on salinity and alkalinity tolerance in sorghum are given, and the prospects for sorghum production in saline-alkalien land are discussed. | HUANG Rui-dong | 2018 | Journal of Integrative Agriculture2018，17，4： | 25 |
| 7 | Bartter and Gitelman syndromes:Spectrum of clinical manifestations caused by different mutations显示文摘Bartter and Gitelman syndromes(BS and GS) are inherited disorders resulting in defects in renal tubularhandling of sodium,potassium and chloride.Previously considered as genotypic and phenotypic heterogeneous diseases,recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition.Although they share some characteristic metabolic abnormalities such as hypokalemia,metabolic alkalosis,hyperplasia of the juxtaglomerular apparatus with hyperreninemia,hyperaldosteronism,the clinical and laboratory manifestations may not always allow distinction between them.Diuretics tests,measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change(< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS,except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists.The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children.Clinical symptoms and biochemical markers of GS and classic form of BS(type III) may overlap and thus genetic analysis may specify the real cause of symptoms.However,although genetic analysis is available,its use remains limited because of limited availability,large gene dimensions,lack of hot-spot mutations,heavy workup time and costs involved.Furthermore,considerable overlap exists between the different genotypes and phenotypes.Although BS and GS usually have distinct presentations and are associated with specific gene mutations,there remains considerable overlap between their phenotypes and genotypes.Thus,they are better described as a spectrum of clinical manifestations caused by different gene mutations. | Amar Al Shibli Hassib Narchi | 2015 | World Journal of Methodology2015，5，2： | 25 |
| 8 | Genome sequencing of the perciform fish Larimichthys crocea provides insights into molecular and genetic mechanisms of stress adaptation显示文摘With the support by the National 863Project,National Natural Science Foundation of China,and National Basic Research Program of China,Prof.Chen Xinhua’s laboratory at the Key Laboratory of Marine Biogenetic Resources,Third Institute of Oceanography,State Oceanic Administration,reported the genome sequencing of the perciform fish Larimichthys crocea(L.crocea),which was published in PLOS Genetics(2015,11(4):e1005118). | | 2015 | Science Foundation in China2015，23，3： | 24 |
| 9 | Glutathione S-transferases M1,T1 genotypes and the risk of gastric cancer:A case-control study显示文摘AIM Glutathione S-transferases (GSTs are involved in the detoxification of many potential carcinogens and appear to play a critical role in the protection from the effects of carcinogens. The contribution of glutathione Stransferases M1 and T1 genotypes to susceptibility to the risk of gastric cancer and their interaction with cigarette smoking are still unclear. The aim of this study was to determine whether there was any relationship between genetic polymorphisms of GSTM1 and GSTT1 and gastric cancer.METHODS A population based case - control study was carried out in a high-risk area, Changle County, Fujian Province, China. The epidemiological data were collected by a standard questionnaire and blood samples were obtained from 95 incidence gastric cancer cases and 94 healthy controls. A polymerase chain reaction method was used to detect the presence or absence of the GSTM1 and GSTT1 genes in genomic DNA. Logistic regression model was employed in the data analysis.RESULTS An increase in risk for gastric cancer was found among carriers of GSTM1 null genotype. The adjusted odds ratio (OR) was 2.63 [95% Confidence Interval (95% CI) 1.17-5.88], after controlling for age,gender, cigarette smoking, alcohol drinking, and fish sauce intake. The frequency of GSTT1 null genotype in cancer cases (43.16%) was not significantly different from that in controls (50.00%). However, the risk for gastric cancer in those with GSTM1 null and GSTT1 nonnull genotype was significantly higher than in those with both GSTM1 and GSTT1 non-null genotype (OR = 2.77,95% Cl 1.15- 6.77). Compared with those subjects who never smoked and had normal GSTM1 genotype, Ors were 1.60 (95% CI: 0.62- 4.19) for never smokers with GSTM1 null type, 2.33 (95% CI 0.88- 6.28) for smokers with normal GSTM1, and 8.06 (95% CI 2.83- 23.67) for smokers with GSTM1 null type.CONCLUSIONS GSTM1 gene polymorphisms may be associated with genetic susceptibility of stomach cancer and may modulate tobacco-related carcinogenesis of gastric cancer. | Lin Cai Shun-Zhang Yu Zuo-Feng Zhang Department of Epidemiology.Fujian Medical University,Fuzhou 350004,Fujian Province,ChinaDepartment of Epidemiology,Shanghai Medical University,Shanghai 200032,China Department of Epidemiology,UCLA School of Public Health,Los Angeles California,USA | 2001 | World Journal of Gastroenterology2001，7，4： | 22 |
| 10 | Update on the management of pancreatic cancer:Surgery is not enough显示文摘Pancreatic ductal adenocarcinoma(PDAC) represents the fourth cause of death in cancer and has a 5-year survival of < 5%.Only about 15% of the patients present with a resectable PDAC with potential to undergo 'curative' surgery.After surgery,local and systemic recurrence,is though very common.The median survival of resected patients with adjuvant chemotherapy after surgery is only 20-23 mo.This underscores the significant need to improve PDAC management strategies.Increased survival rate is dependent on new breakthroughs in our understanding of not at least tumor biology.The aim of this review is to update and comment on recent knowledge concerning PDAC biology and new diagnostics and treatment modalities.One fundamental approach to improve survival rates is by earlier and improved diagnosis of the disease.In recent years,novel blood-based biomarkers have emerged based on genetic,epigenetic and protein changes in PDAC with very promising results.For biomarkers to enter clinical practice they need to have been developed using adequate control groups and provide high sensitivity and specificity and by this identify patients at risk already in a pre-symptomatic stage.Another way to improve outcomes,is by employing neoadjuvant treatments thereby increasing the number of resectable cases.Novel systemic treatment regimes like FOLFIRINOX and nab-paclitaxel have demonstrated improvements in prolonging survival in advanced cases,but long-term survival is still scarce.The future improved understanding of PDAC biology will inevitably render new treatment options directed against both the cancer cells and the surrounding microenvironment. | Daniel Ansari Adam Gustafsson Roland Andersson | 2015 | World Journal of Gastroenterology2015，21，11： | 18 |
| 11 | Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy显示文摘Age-related macular degeneration (AMD) is a complex eye disorder and is the leading cause of incurable blindness worldwide in the elderly. Clinically, AMD initially affects the central area of retina known as the macula and it is classified as early stage to late stage (advanced AMD). The advanced AMD is classified into the nonexudative or atrophic form (dry AMD) and the exudative or neovascular form (wet AMD). More severe vision loss is typically associated with the wet form. Multiple genetic factors, lipid metabolism, oxidative stress and aging, play a role in the etiology of AMD. Dysregulation in genetic to AMD is established to 46%–71% of disease contribution, with CFH and ARMS2/HTRA1 to be the two most notable risk loci among the 103 identified AMD associated loci so far. Chronic cigarette smoking is the most proven consistently risk living habits for AMD. Deep learning algorithm has been developed based on image recognition to distinguish wet AMD and normal macula with high accuracy. Currently, anti-vascular endothelial growth factor (VEGF) therapy is highly effective at treating wet AMD. Several new generation AMD drugs and iPSC-derived RPE cell therapy are in the clinical trial stage and are promising to improve AMD treatment in the near future. | Yanhui Deng Lifeng Qiao Mingyan Du Chao Qu Ling Wan Jie Li Lulin Huang | 2022 | Genes & Diseases2022，9，1： | 17 |
| 12 | PNPLA3 I148M polymorphism and progressive liver disease显示文摘The 148 Isoleucine to Methionine protein variant(I148M)of patatin-like phospholipase domain-containing 3(PNPLA3),a protein is expressed in the liver and is involved in lipid metabolism,has recently been identified as a major determinant of liver fat content.Several studies confirmed that the I148M variant predisposes towards the full spectrum of liver damage associated with fatty liver:from simple steatosis to steatohepatitis and progressive fibrosis.Furthermore,the I148M variant represents a major determinant of progression of alcohol related steatohepatitis to cirrhosis,and to influence fibrogenesis and related clinical outcomes in chronic hepatitis C virus hepatitis,and possibly chronic hepatitis B virus hepatitis,hereditary hemochromatosis and primary sclerosing cholangitis.All in all,studies suggest that the I148M polymorphism may represent a general modifier of fibrogenesis in liver diseases.Remarkably,the effect of the I148M variant on fibrosis was independent of that on hepatic steatosis and inflammation,suggesting that it may affect both the quantity and quality of hepatic lipids and the biology of non-parenchymal liver cells besides hepatocytes,directly promoting fibrogenesis.Therefore,PNPLA3 is a key player in liver disease progression.Assessment of the I148M polymorphism will possibly inform clinical practice in the future,whereas the determination of the effect of the 148M variant will reveal mechanisms involved in hepatic fibrogenesis. | Paola Dongiovanni Benedetta Donati Roberta Fares Rosa Lombardi Rosellina Margherita Mancina Stefano Romeo Luca Valenti | 2013 | World Journal of Gastroenterology2013，19，41： | 17 |
| 13 | The OsSPL16—GW7 regulatory module determines grain shape and simultaneously improves rice yield and grain quality显示文摘With the support by the National Natural Science Foundation of China,the Ministry of Science and Technology of China and the National Special Project of China,Dr.Fu Xiangdong’s laboratory at the Institute of Genetics and Developmental Biology,Chinese Academy of Sciences,reported the OsSPL16—GW7regulatory module simultaneously improves rice yield and grain quality,which was published in Nature Ge- | | 2015 | Science Foundation in China2015，23，3： | 16 |
| 14 | Gut microbiota in obesity显示文摘Obesity is a major global health problem determined by heredity and environment,and its incidence is increasing yearly.In recent years,increasing evidence linking obesity to the gut microbiota has been reported.Gut microbiota management has become a new method of obesity treatment.However,the complex interactions among genetics,environment,the gut microbiota,and obesity remain poorly understood.In this review,we summarize the characteristics of the gut microbiota in obesity,the mechanism of obesity induced by the gut microbiota,and the influence of genetic and environmental factors on the gut microbiota and obesity to provide support for understanding the complex relationship between obesity and microbiota.At the same time,the prospect of obesity research related to the gut microbiota is proposed. | Bing-Nan Liu Xiao-Tong Liu Zi-Han Liang Ji-Hui Wang | 2021 | World Journal of Gastroenterology2021，27，25： | 15 |
| 15 | Genetics of coronary artery disease and myocardial infarction显示文摘Atherosclerotic coronary artery disease(CAD) comprises a broad spectrum of clinical entities that include asymptomatic subclinical atherosclerosis and its clinical complications, such as angina pectoris, myocardial infarction(MI) and sudden cardiac death. CAD continues to be the leading cause of death in industrialized society. The long-recognized familial clustering of CAD suggests that genetics plays a central role in its development, with the heritability of CAD and MI estimated at approximately 50% to 60%. Understanding the genetic architecture of CAD and MI has proven to be difficult and costly due to the heterogeneity of clinical CAD and the underlying multi-decade complex pathophysiological processes that involve both genetic and environmental interactions. This review describes the clinical heterogeneity of CAD and MI to clarify the disease spectrum in genetic studies, provides a brief overview of the historical understanding and estimation of the heritability of CAD and MI, recounts major gene discoveries of potential causal mutations in familial CAD and MI, summarizes CAD and MIassociated genetic variants identified using candidate gene approaches and genome-wide association studies(GWAS), and summarizes the current status of the construction and validations of genetic risk scores for lifetime risk prediction and guidance for preventive strategies. Potential protective genetic factors against the development of CAD and MI are also discussed. Finally, GWAS have identified multiple genetic factors associated with an increased risk of in-stent restenosis following stent placement for obstructive CAD. This review will also address genetic factors associated with in-stent restenosis, which may ultimately guide clinical decision-making regarding revascularization strategies for patients with CAD and MI. | Xuming Dai Szymon Wiernek James P Evans Marschall S Runge | 2016 | World Journal of Cardiology2016，8，1： | 15 |
| 16 | Contribution of ghrelin to functional gastrointestinal disorders' pathogenesis显示文摘Functional gastrointestinal disorders(FGID) are heterogeneous disorders with a variety of clinical manifestations, primarily defined by signs and symptoms rather than a definite underlying cause. Their pathophysiology remains obscure and, although it is expected to differ according to the specific FGID, disruptions in the brain-gut axis are now thought to be a common denominator in their pathogenesis. The hormone ghrelin is an important component of this axis,exerting a wide repertoire of physiological actions, including regulation of gastrointestinal motility and protection of mucosal tissue. Ghrelin's gene shows genetic polymorphism, while its protein product undergoes complex regulation and metabolism in the human body. Numerous studies have studied ghrelin's relation to the emergence of FGIDs, its potential value as an index of disease severity and as a predictive marker for symptom relief during attempted treatment. Despite the mixed results currently available in scientific literature, the plethora of statistically significant findings shows that disruptions in ghrelin genetics and expression are plausibly related to FGID pathogenesis. The aim of this paper is to review current literature studying these associations, in an effort to uncover certain patterns of alterations in both genetics and expression, which could delineate its true contribution to FGID emergence, either as a causative agent or as a pathogenetic intermediate. | Tilemachos Koutouratsas Theodora Kalli Georgios Karamanolis Maria Gazouli | 2019 | World Journal of Gastroenterology2019，25，5： | 14 |
| 17 | Fibroblast growth factor(FGF)signaling in development and skeletal diseases显示文摘Fibroblast growth factors(FGF)and their receptors serve many functions in both the developing and adult organism.Humans contain 18 FGF ligands and four FGF receptors(FGFR).FGF ligands are polypeptide growth factors that regulate several developmental processes including cellular proliferation,differentiation,and migration,morphogenesis,and patterning.FGF-FGFR signaling is also critical to the developing axial and craniofacial skeleton.In particular,the signaling cascade has been implicated in intramembranous ossification of cranial bones as well as cranial suture homeostasis.In the adult,FGFs and FGFRs are crucial for tissue repair.FGF signaling generally follows one of three transduction pathways:RAS/MAP kinase,PI3/AKT,or PLCg.Each pathway likely regulates specific cellular behaviors.Inappropriate expression of FGF and improper activation of FGFRs are associated with various pathologic conditions,unregulated cell growth,and tumorigenesis.Additionally,aberrant signaling has been implicated in many skeletal abnormalities including achondroplasia and craniosynostosis.The biology and mechanisms of the FGF family have been the subject of significant research over the past 30 years.Recently,work has focused on the therapeutic targeting and potential of FGF ligands and their associated receptors.The majority of FGF-related therapy is aimed at age-related disorders.Increased understanding of FGF signaling and biology may reveal additional therapeutic roles,both in utero and postnatally.This review discusses the role of FGF signaling in general physiologic and pathologic embryogenesis and further explores it within the context of skeletal development. | Chad M.Teven Evan M.Farina Jane Rivas Russell R.Reid | 2014 | Genes & Diseases2014，1，2： | 14 |
| 18 | Molecular genetics and targeted therapeutics in biliary tractcarcinoma显示文摘The primary malignancies of the biliary tract, cholangio-carcinoma and gallbladder cancer, often present at an advanced stage and are marginally sensitive to radiation and chemotherapy. Accumulating evidence indicates that molecularly targeted agents may provide new hope for improving treatment response in biliary tract carcinoma(BTC). In this article, we provide a critical review of the pathogenesis and genetic abnormalities of biliary tract neoplasms, in addition to discussing the current and emerging targeted therapeutics in BTC. Genetic studies of biliary tumors have identified the growth factors and receptors as well as their downstream signaling pathways that control the growth and survival of biliary epithelia. Target-specific monoclonal antibodies and small molecules inhibitors directed against the signaling pathways that drive BTC growth and invasion have been developed. Numerous clinical trials designed to test these agents as either monotherapy or in combination with conventional chemotherapy have been completed or are currently underway. Research focusing on understanding the molecular basis of biliary tumorigenesis will continue to identify for targeted therapy the key mutations that drive growth and invasion of biliary neoplasms. Additional strategies that have emerged for treating this malignant disease include targeting the epigenetic alterations of BTC and immunotherapy. By integrating targeted therapy with molecular profiles of biliary tumor, we hope to provide precision treatment for patients with malignant diseases of the biliary tract. | Eric I Marks Nelson S Yee | 2016 | World Journal of Gastroenterology2016，22，4： | 13 |
| 19 | Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases显示文摘Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in equivocal cases. We report a case of a 9-mo old boy with WD who presented as chronic hepatitis. Genetic analysis showed compound heterozygotes of p.G1186S and c.4006delA. | Joo Whee Kim Jong Hyun Kim Jeong Kee Seo Jae Sung Ko Ju Young Chang Hye Ran Yang Kyung Hoon Kang | 2013 | World Journal of Hepatology2013，5，3： | 11 |
| 20 | Non-coding RNAs and other determinants of neuroinflammation and endothelial dysfunction:regulation of gene expression in the acute phase of ischemic stroke and possible therapeutic applications显示文摘Ischemic stroke occurs under a variety of clinical conditions and has different pathogeneses,resulting in necrosis of brain parenchyma.Stroke pathogenesis is characterized by neuroinflammation and endothelial dysfunction.Some of the main processes triggered in the early stages of ischemic damage are the rapid activation of resident inflammatory cells(microglia,astrocytes and endothelial cells),inflammatory cytokines,and translocation of intercellular nuclear factors.Inflammation in stroke includes all the processes mentioned above,and it consists of either protective or detrimental effects concerning the“polarization”of these processes.This polarization comes out from the interaction of all the molecular pathways that regulate genome expression:the epigenetic factors.In recent years,new regulation mechanisms have been cleared,and these include non-coding RNAs,adenosine receptors,and the activity of mesenchymal stem/stromal cells and microglia.We reviewed how long non-coding RNA and microRNA have emerged as an essential mediator of some neurological diseases.We also clarified that their roles in cerebral ischemic injury may provide novel targets for the treatment of ischemic stroke.To date,we do not have adequate tools to control pathophysiological processes associated with stroke.Our goal is to review the role of non-coding RNAs and innate immune cells(such as microglia and mesenchymal stem/stromal cells)and the possible therapeutic effects of their modulation in patients with acute ischemic stroke.A better understanding of the mechanisms that influence the“polarization”of the inflammatory response after the acute event seems to be the way to change the natural history of the disease. | Mario Daidone Marco Cataldi Antonio Pinto Antonino Tuttolomondo | 2021 | Neural Regeneration Research2021，16，11： | 9 |
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