Journal of genetic syndromes & gene therapy最新文献_第5页

Development, optimization, evaluation of inhalable solid sedds to cure pulmonary arterial hypertension (PAH) 可吸入固体镇静剂治疗肺动脉高压(PAH)的研制、优化与评价

Journal of genetic syndromes & gene therapy Pub Date : 2017-11-07 DOI: 10.4172/2157-7412-C1-016

Abhijit Debnath, Hema Chaudhary

引用次数: 0

Innovative tools for drug development and disease modeling 药物开发和疾病建模的创新工具

Journal of genetic syndromes & gene therapy Pub Date : 2017-07-11 DOI: 10.4172/2157-7412-C1-011

D. Tagle

引用次数: 0

The prevalence of rare diseases in the population of hospitalized patients 罕见病在住院患者人群中的患病率

Journal of genetic syndromes & gene therapy Pub Date : 2017-07-11 DOI: 10.4172/2157-7412-C1-013

Karina Levina

引用次数: 1

Identification of Four Novel Factor VIII Gene Mutations and Protein Structure Analysis using Molecular Dynamic Simulation 四种新型因子VIII基因突变的鉴定及分子动力学模拟的蛋白结构分析

Journal of genetic syndromes & gene therapy Pub Date : 2017-02-27 DOI: 10.4172/2157-7412.1000317

F. Al-Allaf, T. Owaidah, Z. Abduljaleel, M. Taher, M. Athar, H. Abalkhail, W. Khan, A. Bouazzaoui

{"title":"Identification of Four Novel Factor VIII Gene Mutations and Protein Structure Analysis using Molecular Dynamic Simulation","authors":"F. Al-Allaf, T. Owaidah, Z. Abduljaleel, M. Taher, M. Athar, H. Abalkhail, W. Khan, A. Bouazzaoui","doi":"10.4172/2157-7412.1000317","DOIUrl":"https://doi.org/10.4172/2157-7412.1000317","url":null,"abstract":"Hemophilia A is an X-linked recessive hemorrhagic disorder caused by mutations in the factor VIII gene. To find out known and novel causative mutations in Hemophilia A, we carried out genetic analysis among Saudi patients. Twenty six Patients who were negative for inv-1/inv-22 were selected for analysis with Multiplex Ligation-dependent Probe Amplification (MLPA) and Sanger sequencing. Furthermore the functional and structural effects of the novel mutations were predicted using Molecular dynamic simulation. The results showed three known large deletions in 6 samples (delE8,9,10,11,12,13,14; delE7,8,9,10; and delE4) and twelve mutations in 18 samples; four of them were novel. The novel mutations detected were two substitutions in exon 8 at position c.1021G>C, p.(Ala341Pro) and position c.1183A>C, p.(Lys395Gln), one substitution in exon13 at position c.1930T>A, p.(Leu644Met), and one substitution in exon22 at position c.6322G>C, p.(Ala2108Pro). Clinical data of Patients with novel mutations showed <1% Factor VIII levels (severe hemophilia) with episodic bleeding and were on a routine treatment of plasma derived clotting factor concentrate. This data is in line with MD simulation showed significant changes of the different mutations on the protein structure compared to native protein. These results should enrich the spectrum of mutations and enlarge the factor VIII protein’s database in Saudi Arabian population; furthermore it showed that the in silico MD simulation for functional and structural studies could be a reasonable approach for investigating the advance genotype-phenotype correlation.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"16 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2017-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75145183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Further Characteristics of Pregnant ?one Marrow Cells Action on Rat Development during Early Pregnancy 孕1型骨髓细胞在妊娠早期大鼠发育中的进一步作用

Journal of genetic syndromes & gene therapy Pub Date : 2017-02-17 DOI: 10.4172/2157-7412.1000316

V. Mikhailov, Sokolov Av, Skripkina Ns, E. Kaminskaya, Domnina Ap, Nikolsky Nn

{"title":"Further Characteristics of Pregnant ?one Marrow Cells Action on Rat Development during Early Pregnancy","authors":"V. Mikhailov, Sokolov Av, Skripkina Ns, E. Kaminskaya, Domnina Ap, Nikolsky Nn","doi":"10.4172/2157-7412.1000316","DOIUrl":"https://doi.org/10.4172/2157-7412.1000316","url":null,"abstract":"There were early results that effect of single intravenous transplantation of pregnant rats Percoll derived mononuclear bone marrow cells (BMC) suspention of 4-5, 7-9 or 11-12 pregnant days to rats with the same date of pregnancy depends on gestation period of transplantation. The weight of 18th day fetuses after intravenous transplantation during 7-9 days was increased with significant difference in comparison with weight of normal fetuses. In case of intravenous BMC transplantation during placentation at 11-12 days of pregnancy the weight of fetuses was decreased, the weight of placentas was increased and survival of fetuses was disturbed. There are several explanations of increase of weight of fetuses after intravenous BMC transplantation within gastrulation including paracrine effect of allogenic transplanted cells on the DC development, the apoptosis and proliferation of embryonal cells and possible epigenetic action. The retardation of fetuses growth after intravenous BMC transplantation during placenta formation at pregnant 11-12 days may be explained by cytotoxic action of uNK cells for embryo. At the same time the sub-dermal BMC transplantation at 11 and 13 pregnant days stopped the embryotoxic action of uNK cells and increased the weight of fetuses and preserved the survival of embryos.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"2 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2017-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91033616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Keratoacanthoma in Xeroderma Pigmentosum: An Entity Beyond Guess 色素性干皮病中的角棘瘤:一个超乎想象的实体

Journal of genetic syndromes & gene therapy Pub Date : 2017-01-01 DOI: 10.4172/2157-7412.1000318

Radhika K Varma, P. Prathap

引用次数: 0

Assessment of Pep, Fndc5, C2c12, Pgc1α Pattern of Genes Expression during Differentiation of Human Embryonic Stem Cells into Heart Cells 人胚胎干细胞向心脏细胞分化过程中Pep、Fndc5、C2c12、Pgc1α基因表达模式的研究

Journal of genetic syndromes & gene therapy Pub Date : 2017-01-01 DOI: 10.4172/2157-7412.1000314

S. Asadi, Z. Gholizadeh, Mahsa Jamali, Mina Niknia

引用次数: 0

Polyglutamine ataxias: From Clinical and Molecular Features to Current Therapeutic Strategies 多谷氨酰胺共济失调:从临床和分子特征到当前的治疗策略

Journal of genetic syndromes & gene therapy Pub Date : 2017-01-01 DOI: 10.4172/2157-7412.1000319

Craig S McIntosh, M. Aung-Htut, S. Fletcher, S. Wilton

{"title":"Polyglutamine ataxias: From Clinical and Molecular Features to Current Therapeutic Strategies","authors":"Craig S McIntosh, M. Aung-Htut, S. Fletcher, S. Wilton","doi":"10.4172/2157-7412.1000319","DOIUrl":"https://doi.org/10.4172/2157-7412.1000319","url":null,"abstract":"Spinocerebellar ataxias are a large group of heterogeneous diseases that all involve selective neuronal degeneration and accompanied cerebellar ataxia. These diseases can be further broken down into discrete groups according to their underlying molecular genetic cause. The most common are the polyglutamine ataxias, of which there are six; Spinocerebellar ataxia type 1, 2, 3, 6, 7 and 17. These diseases are characterised by a pathological expanded cytosine–adenine–guanine (CAG) repeat sequence, in the protein coding region of a given gene. Common clinical features include lack of coordination and gait ataxia, speech and swallowing difficulties, as well as impaired hand and motor functions. The polyglutamine spinocerebellar ataxias are typically late onset diseases that are progressive in nature and often lead to premature death, for which there is currently no known cure or effective treatment strategy. Although caused by the same molecular mechanism, the causative gene and associated protein differ for each disease. The exact mechanism by which disease pathogenesis is caused remains elusive. However, the variable (CAG)n repeats are codons that may be translated to an expanded glutamine tract, leading to conformational changes in the protein, giving it a toxic gain of function. Several pathogenic pathways have been implicated in polyglutamine spinocerebellar ataxia diseases, such as the hallmark feature of neuronal nuclear inclusions, protein misfolding and aggregation, as well as transcriptional dysregulation. These pathways are attractive avenues for potential therapeutic interventions, as the potential to treat more than one disease exists. Research is ongoing, and several promising therapies are currently underway in an attempt to provide relief for this devastating class of diseases.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"5 1","pages":"1-17"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86367741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

Can Imaging Aid Diagnosis of Inner Ear Malformation and Predict Digeorge Syndrome 影像能帮助诊断内耳畸形并预测迪乔治综合征吗

Journal of genetic syndromes & gene therapy Pub Date : 2017-01-01 DOI: 10.4172/2157-7412.1000315

M. Eliezer

{"title":"Can Imaging Aid Diagnosis of Inner Ear Malformation and Predict Digeorge Syndrome","authors":"M. Eliezer","doi":"10.4172/2157-7412.1000315","DOIUrl":"https://doi.org/10.4172/2157-7412.1000315","url":null,"abstract":"Objective To identify congenital malformations of temporal bone and more particularly the inner ear in DiGeorge syndrome. Methods We conducted a retrospective study from January 2003 to December 2011 at Rouen University Hospital. Temporal bone Computed tomography (CT) images of 13 patients with genetically confirmed DiGeorge syndrome were extracted from the database and systematically reviewed. All imaging was independently then jointly evaluated by both a senior and junior radiologist who were blinded to clinical data and audiometric findings. Results Review of CT images did not evidence any notable malformation of the external or middle ear. The anomalies identified correlated with the post otitis past of the patients. Conversely, we found either hypoplasia or agenesia in 69% of anomalies involving the lateral semicircular canal (LSCC). The vestibule was dilated in 31% of cases. There was no correlation between sensorineural hearing loss (SNHL) and the labyrinthine anomalies described. Conclusions In the present study, CT imaging was able to identify frequent malformation of the inner ear in DiGeorge syndrome, i.e hypoplasia or agenesia of the LSCC, without referring to audiometric findings. Moreover, the fortuitous diagnosis of this kind of malformation by CT scan performed for other investigations may lead to suspect Di George syndrome (22q11 deletion) moreover if other symptoms are associated.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"20 1","pages":"2-4"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89539892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Peters Plus Syndrome: Another Way to See a Known Syndrome 彼得斯综合症:另一种看待已知综合症的方式

Journal of genetic syndromes & gene therapy Pub Date : 2017-01-01 DOI: 10.4172/2157-7412.1000320

E. Grande, Serena Ciabattoni, E. Andreucci, C. Romano, G. Capecchi, S. Ferranti, S. Grosso

引用次数: 1