Journal of genetic syndromes & gene therapy最新文献_第4页

A patient at the table: How partnership with patients improves research and enhances service delivery 桌上的病人:与病人的伙伴关系如何改善研究和加强服务提供

Journal of genetic syndromes & gene therapy Pub Date : 2018-10-05 DOI: 10.4172/2157-7412-c2-020

pMichael S Wolfep

引用次数: 0

Serotonergic targets in the treatment of pulmonary arterial hypertension (PAH) and idiopathic pulmonary fibrosis (IPF) 5 -羟色胺能靶向治疗肺动脉高压(PAH)和特发性肺纤维化(IPF)

Journal of genetic syndromes & gene therapy Pub Date : 2018-06-27 DOI: 10.4172/2157-7412-C1-017

L. Bhat

引用次数: 0

Rare diagnosis in disorders/differences of sex development 性发育障碍/差异的罕见诊断

Journal of genetic syndromes & gene therapy Pub Date : 2018-06-27 DOI: 10.4172/2157-7412-C1-018

Yol, E. V. Bever

引用次数: 0

A Review of the Type-1 Fibrillinopathies: Pathophysiology, Diagnosis and Novel Therapeutic Strategies 1型纤维蛋白病变:病理生理学、诊断和新的治疗策略综述

Journal of genetic syndromes & gene therapy Pub Date : 2018-01-20 DOI: 10.4172/2157-7412.1000323

J. Cale, S. Fletcher, S. Wilton

{"title":"A Review of the Type-1 Fibrillinopathies: Pathophysiology, Diagnosis and Novel Therapeutic Strategies","authors":"J. Cale, S. Fletcher, S. Wilton","doi":"10.4172/2157-7412.1000323","DOIUrl":"https://doi.org/10.4172/2157-7412.1000323","url":null,"abstract":"Type-1 fibrillinopathies are a family of connective tissue disorders with major clinical manifestations in the skeletal, ocular and cardiovascular systems. The type-1 fibrillinopathies are caused by mutations in the fibrillin-1 gene (FBN1), which encodes fibrillin-1, a large glycoprotein and a major component of the extracellular matrix microfibrils, providing both structural and regulatory support to connective tissues. The type-1 fibrillinopathies have been associated with over 1800 unique mutations within the FBN1 and demonstrate a wide range of phenotypic variability. This, in conjunction with a number of other factors has impacted on the identification of genotypephenotype correlations, pathogenesis and diagnostic tests for this family of diseases, leaving many open-ended theories. Current standard of care relies heavily on surgical intervention and lifelong use of β-blockers to slow disease progression, with research focused heavily on antagonism of transforming growth factor β, which is known to be dysregulated in patients with FBN1 mutations. Antisense oligonucleotides present a novel therapeutic strategy for the type-1 fibrillinopathies, by mediating the alteration of exon arrangement of both the normal and disease-causing mRNA transcripts, to re-establish the periodicity of fibrillin-1. The induced proteins, while internally truncated, should be homologous and thus be able to form multimer units. This treatment alone or in association with isoform switching, TGF-β antagonism or enhanced/inhibited protein degradation could facilitate the assembly of fibrillin-1 monomers into multimers and consequently a decrease in phenotypic severity. This review presents a basic overview of the past and current knowledge about the spectrum of type-1 fibrillinopathies with a particular focus on Marfan syndrome, as well as presenting novel potential therapeutic strategies.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":" 42","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2018-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72499572","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

Patient-directed insights on the evolution of treating rare genetic diseases 以患者为导向的罕见遗传疾病治疗演变的见解

Journal of genetic syndromes & gene therapy Pub Date : 2018-01-01 DOI: 10.4172/2157-7412-C3-023

pLeslie AtleyGT Berry Se McC, less M YudkoffM Tuchman N Ah Mewp

引用次数: 0

Niemann Pick disease, about three cases 尼曼匹克病，大约有三个病例

Journal of genetic syndromes & gene therapy Pub Date : 2018-01-01 DOI: 10.4172/2157-7412-C3-025

D. E. Ouail, F. Bouali, D. S. Ahmed, M. Tebbani

引用次数: 0

Exploiting new therapeutic strategies for treating lysosome storage disorders 探索治疗溶酶体储存障碍的新治疗策略

Journal of genetic syndromes & gene therapy Pub Date : 2018-01-01 DOI: 10.4172/2157-7412-C2-022

A. Luciani

引用次数: 0

Assessment of Mutation Genetics in FAM20A and FAM20C Genes Induction Syndrome Raine with New Mutation c.977-1T>A FAM20A和FAM20C基因诱导综合征新突变c.977-1T>A的突变遗传学评价

Journal of genetic syndromes & gene therapy Pub Date : 2017-12-20 DOI: 10.4172/2157-7412.1000322

S. Asadi

{"title":"Assessment of Mutation Genetics in FAM20A and FAM20C Genes Induction Syndrome Raine with New Mutation c.977-1T>A","authors":"S. Asadi","doi":"10.4172/2157-7412.1000322","DOIUrl":"https://doi.org/10.4172/2157-7412.1000322","url":null,"abstract":"Syndrome Raine, a severe skeletal dysplasia is usually caused the deaths of patients aged newborn. There are reports that patients with a milder form of the disease to live longer and have reached the age of a child. Radiological surveys show an increase in bone density generalized sclerosis and osteoarthritis. Raine syndrome is a very rare hereditary lethal skeletal dysplasia. There are few reports of milder phenotypes in which patients survived until late childhood. Radiologic investigations show increased bone density and osteosclerosis. The increased density of bones in the head and face causes a characteristic dysmorphic feature that include a prominent and narrow forehead, proptosis, a small hypoplastic nose with depressed nasal bridge, mid-face hypoplasia, a triangular mouth, coanal atresia, and intracranial cerebral classification. Osteosclerosis is severe enough and could be mistaken with osteopetrosis. Raine syndrome is a hereditary autosomal recessive disease. Its cause is a homozygous or compound heterozygous mutation in the FAM20C and FAM20A gene. The gene encodes a phosphorylase-kinase which is responsible for biomineralization of the skeleton. Bone density at the base of the skull, causing changes in the craniofacial skeleton, leading to specific dysmorphic signs in the figures. Symptoms of the disease include prominent forehead, proptosis, nasal root sunk, hypoplastic middle part of the face, hypoplastic nose, mouth, triangular, Atresia Cowan and intracranial calcification. Bone density in the disease so that the disease osteopetrosis is wrong. Raine syndrome is an autosomal recessive hereditary disease, which is caused by mutations in the genes is FAM20A and FAM20C. This gene encodes a protein that phosphorylase-kinase activity has been implicated in bio-mineralization. In this study, a patient with Raine syndrome. Molecular analysis of the patient, a homozygous mutation new were identified. Already known about the patient’s Eighteenth in the world.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"25 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2017-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80161285","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

Application of CRISPR/Cas9 Genome Editing in Genetic Disorders: A Systematic Review Up to Date CRISPR/Cas9基因组编辑在遗传疾病中的应用:最新系统综述

Journal of genetic syndromes & gene therapy Pub Date : 2017-12-09 DOI: 10.4172/2157-7412.1000321

V. Pandey, A. Tripathi, R. Bhushan, Akhtar Ali, P. Dubey

{"title":"Application of CRISPR/Cas9 Genome Editing in Genetic Disorders: A Systematic Review Up to Date","authors":"V. Pandey, A. Tripathi, R. Bhushan, Akhtar Ali, P. Dubey","doi":"10.4172/2157-7412.1000321","DOIUrl":"https://doi.org/10.4172/2157-7412.1000321","url":null,"abstract":"Genetic diseases in human are associated with congenital disorders and phenotypic traits. A single mutation in a gene can cause physical or mental problems, and sometimes both. Some diseases can be lethal, and there are still no cures for many of them. Socioeconomic burden of rare genetic diseases are increasing worldwide that have been tried to cure using various methods. However, they were not very successful till now. Genome editing technologies over the past few years is providing fast and effective tool to precisely manipulate the genome at specific locations. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) associated Cas9 (CRISPR/Cas9) system has been using from last few years in the field of biomedical research. CRISPR/Cas9 has advantages in terms of clinical applicability to treat genetic diseases like DMD, Hemophilia, β-Thalassemia and cystic fibrosis etc. and even in some cases this tool has already been successfully applied. Nevertheless, developed technologies for addition or deletion of genes have made notable progress in last few years and demonstrate some promising clinical results. However, several challenges still remain. Here, the latest applications of CRISPR-Cas9 technology in genetic disorders, current challenges and future directions are reviewed and discussed.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"31 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2017-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85074654","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: 18

The Conundrums of 3'Phoaphoadenosine 5'Phosphosulfate (PAPS) Synthase (PAPSS) 3'磷酸腺苷5'磷酸硫酸(PAPS)合成酶(PAPSS)难题

Journal of genetic syndromes & gene therapy Pub Date : 2017-12-07 DOI: 10.4172/2157-7412.1000E-132

K. Venkatachalam

引用次数: 0