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Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. lncRNA基因CHASERR缺失导致的神经发育障碍
IF 158.5 1区 医学
New England Journal of Medicine Pub Date : 2024-10-24 DOI: 10.1056/nejmoa2400718
Vijay S Ganesh,Kevin Riquin,Nicolas Chatron,Esther Yoon,Kay-Marie Lamar,Miriam C Aziz,Pauline Monin,Melanie C O'Leary,Julia K Goodrich,Kiran V Garimella,Eleina England,Ben Weisburd,François Aguet,Carlos A Bacino,David R Murdock,Hongzheng Dai,Jill A Rosenfeld,Lisa T Emrick,Shamika Ketkar,Yael Sarusi,Damien Sanlaville,Saima Kayani,Brian Broadbent,Alisée Pengam,Bertrand Isidor,Stéphane Bezieau,Benjamin Cogné,Daniel G MacArthur,Igor Ulitsky,Gemma L Carvill,Anne O'Donnell-Luria
{"title":"Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.","authors":"Vijay S Ganesh,Kevin Riquin,Nicolas Chatron,Esther Yoon,Kay-Marie Lamar,Miriam C Aziz,Pauline Monin,Melanie C O'Leary,Julia K Goodrich,Kiran V Garimella,Eleina England,Ben Weisburd,François Aguet,Carlos A Bacino,David R Murdock,Hongzheng Dai,Jill A Rosenfeld,Lisa T Emrick,Shamika Ketkar,Yael Sarusi,Damien Sanlaville,Saima Kayani,Brian Broadbent,Alisée Pengam,Bertrand Isidor,Stéphane Bezieau,Benjamin Cogné,Daniel G MacArthur,Igor Ulitsky,Gemma L Carvill,Anne O'Donnell-Luria","doi":"10.1056/nejmoa2400718","DOIUrl":"https://doi.org/10.1056/nejmoa2400718","url":null,"abstract":"CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the CHASERR locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with CHD2 haploinsufficiency. We found that the CHASERR deletion results in increased CHD2 protein abundance in patient-derived cell lines and increased expression of the CHD2 transcript in cis. These findings indicate that CHD2 has bidirectional dosage sensitivity in human disease, and we recommend that other lncRNA-encoding genes be evaluated, particularly those upstream of genes associated with mendelian disorders. (Funded by the National Human Genome Research Institute and others.).","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":158.5,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142489513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Milestone for Gene-Editing Therapies. 基因编辑疗法的里程碑
IF 96.2 1区 医学
New England Journal of Medicine Pub Date : 2024-10-24 DOI: 10.1056/NEJMe2412176
Kiran Musunuru
{"title":"A Milestone for Gene-Editing Therapies.","authors":"Kiran Musunuru","doi":"10.1056/NEJMe2412176","DOIUrl":"https://doi.org/10.1056/NEJMe2412176","url":null,"abstract":"","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":96.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case 33-2024: A 71-Year-Old Woman with Confusion, Aphasia, and a Brain Mass. 病例 33-2024：一名 71 岁女性，伴有意识模糊、失语和脑肿块。
IF 158.5 1区 医学
New England Journal of Medicine Pub Date : 2024-10-24 DOI: 10.1056/nejmcpc2402496
Isabel Arrillaga-Romany,Jeremy N Ford,Gavin P Dunn,Camille N Kotton,Christopher W Mount,Katherine A Latham
{"title":"Case 33-2024: A 71-Year-Old Woman with Confusion, Aphasia, and a Brain Mass.","authors":"Isabel Arrillaga-Romany,Jeremy N Ford,Gavin P Dunn,Camille N Kotton,Christopher W Mount,Katherine A Latham","doi":"10.1056/nejmcpc2402496","DOIUrl":"https://doi.org/10.1056/nejmcpc2402496","url":null,"abstract":"","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":158.5,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142489617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Parkinson's Disease. 帕金森病
IF 96.2 1区 医学
New England Journal of Medicine Pub Date : 2024-10-24 DOI: 10.1056/NEJMc2410843
Kent R Olson
{"title":"Parkinson's Disease.","authors":"Kent R Olson","doi":"10.1056/NEJMc2410843","DOIUrl":"https://doi.org/10.1056/NEJMc2410843","url":null,"abstract":"","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":96.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Glycogenic Hepatopathy. 糖原性肝炎
IF 96.2 1区 医学
New England Journal of Medicine Pub Date : 2024-10-24 Epub Date: 2024-10-19 DOI: 10.1056/NEJMicm2403484
Åke Sjöholm, Havraz Mahma
{"title":"Glycogenic Hepatopathy.","authors":"Åke Sjöholm, Havraz Mahma","doi":"10.1056/NEJMicm2403484","DOIUrl":"10.1056/NEJMicm2403484","url":null,"abstract":"","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":96.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Opportunity Costs of Medicare Advantage Plan Rebates. 医疗保险优势计划回扣的机会成本。
IF 158.5 1区 医学
New England Journal of Medicine Pub Date : 2024-10-19 DOI: 10.1056/nejmp2405572
Cori Uccello,Gretchen Jacobson,Melinda J B Buntin
{"title":"The Opportunity Costs of Medicare Advantage Plan Rebates.","authors":"Cori Uccello,Gretchen Jacobson,Melinda J B Buntin","doi":"10.1056/nejmp2405572","DOIUrl":"https://doi.org/10.1056/nejmp2405572","url":null,"abstract":"","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":158.5,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142486380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Navigating Clinicians' Conscience-Based Refusals to Provide Lawful Medical Care. 引导临床医生基于良心拒绝提供合法医疗服务。
IF 158.5 1区 医学
New England Journal of Medicine Pub Date : 2024-10-19 DOI: 10.1056/nejmp2403935
Douglas B White,Mark Wicclair
{"title":"Navigating Clinicians' Conscience-Based Refusals to Provide Lawful Medical Care.","authors":"Douglas B White,Mark Wicclair","doi":"10.1056/nejmp2403935","DOIUrl":"https://doi.org/10.1056/nejmp2403935","url":null,"abstract":"","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":158.5,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142486340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Taking Our Own Medicine 吃自己的药
IF 158.5 1区 医学
New England Journal of Medicine Pub Date : 2024-10-19 DOI: 10.1056/nejmp2403872
Chris AdrianFrom Children’s Hospital Los Angeles, Los Angeles.
{"title":"Taking Our Own Medicine","authors":"Chris AdrianFrom Children’s Hospital Los Angeles, Los Angeles.","doi":"10.1056/nejmp2403872","DOIUrl":"https://doi.org/10.1056/nejmp2403872","url":null,"abstract":"As he explores the uses of psychedelic-assisted therapy, a physician continues to reframe and re-answer a niggling question about the ethos and mindset of practitioners of this new mode of treatment.","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":158.5,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142451389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Two Trials of Therapeutics for MASH with Liver Fibrosis. 两项治疗肝纤维化 MASH 的试验。
IF 96.2 1区 医学
New England Journal of Medicine Pub Date : 2024-10-17 DOI: 10.1056/NEJMc2411003
Zubing Mei, Jin Pu, Zhuo Shao
{"title":"Two Trials of Therapeutics for MASH with Liver Fibrosis.","authors":"Zubing Mei, Jin Pu, Zhuo Shao","doi":"10.1056/NEJMc2411003","DOIUrl":"https://doi.org/10.1056/NEJMc2411003","url":null,"abstract":"","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":96.2,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acne Fulminans. 糠疹
IF 96.2 1区 医学
New England Journal of Medicine Pub Date : 2024-10-17 DOI: 10.1056/NEJMicm2406625
Hong-Hao Hu, Jiu-Hong Li
{"title":"Acne Fulminans.","authors":"Hong-Hao Hu, Jiu-Hong Li","doi":"10.1056/NEJMicm2406625","DOIUrl":"https://doi.org/10.1056/NEJMicm2406625","url":null,"abstract":"","PeriodicalId":54725,"journal":{"name":"New England Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":96.2,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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