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Current genetic medicine reports最新文献

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New in Newborn Screening 新生儿筛查
IF 2.1
Current genetic medicine reports Pub Date : 2017-08-01 DOI: 10.1007/s40142-017-0126-5
Damara Ortiz, U. Lichter-Konecki
{"title":"New in Newborn Screening","authors":"Damara Ortiz, U. Lichter-Konecki","doi":"10.1007/s40142-017-0126-5","DOIUrl":"https://doi.org/10.1007/s40142-017-0126-5","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"143-148"},"PeriodicalIF":2.1,"publicationDate":"2017-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0126-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42256610","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
Metabolic Dysregulation in Amyotrophic Lateral Sclerosis: Challenges and Opportunities. 肌萎缩性侧索硬化症代谢失调:挑战与机遇。
Current genetic medicine reports Pub Date : 2017-06-01 Epub Date: 2017-04-28 DOI: 10.1007/s40142-017-0123-8
Archi Joardar, Ernesto Manzo, Daniela C Zarnescu
{"title":"Metabolic Dysregulation in Amyotrophic Lateral Sclerosis: Challenges and Opportunities.","authors":"Archi Joardar,&nbsp;Ernesto Manzo,&nbsp;Daniela C Zarnescu","doi":"10.1007/s40142-017-0123-8","DOIUrl":"https://doi.org/10.1007/s40142-017-0123-8","url":null,"abstract":"<p><strong>Purpose of review: </strong>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease for which there is no cure and treatments are at best palliative. Several genes have been linked to ALS, which highlight defects in multiple cellular processes including RNA processing, proteostasis and metabolism. Clinical observations have identified glucose intolerance and dyslipidemia as key features of ALS however the causes of these metabolic alterations remain elusive.</p><p><strong>Recent findings: </strong>Recent studies reveal that motor neurons and muscle cells may undergo cell type specific metabolic changes that lead to utilization of alternate fuels. For example, ALS patients' muscles exhibit reduced glycolysis and increased reliance on fatty acids. In contrast, ALS motor neurons contain damaged mitochondria and exhibit impaired lipid beta oxidation, potentially leading to increased glycolysis as a compensatory mechanism.</p><p><strong>Summary: </strong>These findings highlight the complexities of metabolic alterations in ALS and provide new opportunities for designing therapeutic strategies based on restoring cellular energetics.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 2","pages":"108-114"},"PeriodicalIF":0.0,"publicationDate":"2017-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0123-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35629830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 22
Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition 囊性纤维化的诊断和治疗:一种(不那么)简单的隐性疾病
IF 2.1
Current genetic medicine reports Pub Date : 2017-05-20 DOI: 10.1007/s40142-017-0122-9
K. Raraigh, M. Pastore, L. Greene, B. Karczeski, L. K. Fisher, B. Ramsey, E. Langfelder-Schwind
{"title":"Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition","authors":"K. Raraigh, M. Pastore, L. Greene, B. Karczeski, L. K. Fisher, B. Ramsey, E. Langfelder-Schwind","doi":"10.1007/s40142-017-0122-9","DOIUrl":"https://doi.org/10.1007/s40142-017-0122-9","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"91-99"},"PeriodicalIF":2.1,"publicationDate":"2017-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0122-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44943228","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
Genetic Counseling in Von Hippel-Lindau Disease: Navigating the Landscape of a Well-Established Syndrome 遗传咨询在冯希佩尔-林道病:导航景观一个公认的综合征
IF 2.1
Current genetic medicine reports Pub Date : 2017-05-04 DOI: 10.1007/s40142-017-0119-4
G. Chan-Smutko
{"title":"Genetic Counseling in Von Hippel-Lindau Disease: Navigating the Landscape of a Well-Established Syndrome","authors":"G. Chan-Smutko","doi":"10.1007/s40142-017-0119-4","DOIUrl":"https://doi.org/10.1007/s40142-017-0119-4","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"66-74"},"PeriodicalIF":2.1,"publicationDate":"2017-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0119-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44432521","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
Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes 与儿童白血病相关的生殖系突变:新发现和新出现的表型
IF 2.1
Current genetic medicine reports Pub Date : 2017-05-02 DOI: 10.1007/s40142-017-0118-5
Sarah Bannon, Jessica Foglesong, C. Dinardo
{"title":"Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes","authors":"Sarah Bannon, Jessica Foglesong, C. Dinardo","doi":"10.1007/s40142-017-0118-5","DOIUrl":"https://doi.org/10.1007/s40142-017-0118-5","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"59-65"},"PeriodicalIF":2.1,"publicationDate":"2017-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0118-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43005801","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: 4
Prenatal Diagnostic Exome Sequencing: a Review 产前诊断外显子组测序:综述
IF 2.1
Current genetic medicine reports Pub Date : 2017-05-02 DOI: 10.1007/s40142-017-0120-y
L. Westerfield, Alicia A. Braxton, M. Walkiewicz
{"title":"Prenatal Diagnostic Exome Sequencing: a Review","authors":"L. Westerfield, Alicia A. Braxton, M. Walkiewicz","doi":"10.1007/s40142-017-0120-y","DOIUrl":"https://doi.org/10.1007/s40142-017-0120-y","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"75-83"},"PeriodicalIF":2.1,"publicationDate":"2017-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0120-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42696187","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: 2
Benefits and Challenges of Telemedicine: the JScreen Program Experience 远程医疗的好处和挑战:JScreen项目经验
IF 2.1
Current genetic medicine reports Pub Date : 2017-04-27 DOI: 10.1007/s40142-017-0121-x
M. Hardy, K. Grinzaid
{"title":"Benefits and Challenges of Telemedicine: the JScreen Program Experience","authors":"M. Hardy, K. Grinzaid","doi":"10.1007/s40142-017-0121-x","DOIUrl":"https://doi.org/10.1007/s40142-017-0121-x","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"84-90"},"PeriodicalIF":2.1,"publicationDate":"2017-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0121-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45500743","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
Erratum to: Genetics of Lipid and Lipoprotein Disorders and Traits 《脂质和脂蛋白紊乱和性状的遗传学》的勘误
IF 2.1
Current genetic medicine reports Pub Date : 2017-03-21 DOI: 10.1007/s40142-017-0117-6
J. Dron, R. Hegele
{"title":"Erratum to: Genetics of Lipid and Lipoprotein Disorders and Traits","authors":"J. Dron, R. Hegele","doi":"10.1007/s40142-017-0117-6","DOIUrl":"https://doi.org/10.1007/s40142-017-0117-6","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"115"},"PeriodicalIF":2.1,"publicationDate":"2017-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0117-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46957368","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
Counseling At-Risk Parkinson’s Disease Cohorts: Integrating Emerging Evidence 帕金森病高危人群咨询：整合新出现的证据
IF 2.1
Current genetic medicine reports Pub Date : 2017-03-11 DOI: 10.1007/s40142-017-0116-7
Leonard L. Sokol, Michael J. Young, J. Jankovic
{"title":"Counseling At-Risk Parkinson’s Disease Cohorts: Integrating Emerging Evidence","authors":"Leonard L. Sokol, Michael J. Young, J. Jankovic","doi":"10.1007/s40142-017-0116-7","DOIUrl":"https://doi.org/10.1007/s40142-017-0116-7","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"100-107"},"PeriodicalIF":2.1,"publicationDate":"2017-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0116-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41466123","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
Genetic and Evolutionary Contributions to the Etiology of Attention Deficit Hyperactivity Disorder 遗传和进化对注意缺陷多动障碍病因的贡献
IF 2.1
Current genetic medicine reports Pub Date : 2017-03-02 DOI: 10.1007/s40142-017-0114-9
G. Puddu, P. Rothhammer, F. Rothhammer
{"title":"Genetic and Evolutionary Contributions to the Etiology of Attention Deficit Hyperactivity Disorder","authors":"G. Puddu, P. Rothhammer, F. Rothhammer","doi":"10.1007/s40142-017-0114-9","DOIUrl":"https://doi.org/10.1007/s40142-017-0114-9","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"54-57"},"PeriodicalIF":2.1,"publicationDate":"2017-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0114-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46283026","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
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