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Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos. 人类YTHDC2突变扰乱了卵母细胞和早期胚胎的RNA稳态。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-03-21 DOI: 10.1007/s00439-026-02818-5
Wei Su, Yang Wang, Jiaqi Sun, Changlong Zhang, Changjian Yin, Ying Cui, Xiaolei Chen, Bohan Yang, Shigang Zhao, Keliang Wu, Ge Lin, Zi-Jiang Chen, Wei Zheng, Honghui Zhang, Han Zhao
{"title":"Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.","authors":"Wei Su, Yang Wang, Jiaqi Sun, Changlong Zhang, Changjian Yin, Ying Cui, Xiaolei Chen, Bohan Yang, Shigang Zhao, Keliang Wu, Ge Lin, Zi-Jiang Chen, Wei Zheng, Honghui Zhang, Han Zhao","doi":"10.1007/s00439-026-02818-5","DOIUrl":"https://doi.org/10.1007/s00439-026-02818-5","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147493732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polygenic scores and physical fitness prediction: a systematic review. 多基因评分和身体健康预测：系统综述。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-03-21 DOI: 10.1007/s00439-026-02820-x
Farzaneh Rami, Nazanin Vaziri, Amanda V Tyndall, David W Anderson, Marc J Poulin, Chad A Bousman
{"title":"Polygenic scores and physical fitness prediction: a systematic review.","authors":"Farzaneh Rami, Nazanin Vaziri, Amanda V Tyndall, David W Anderson, Marc J Poulin, Chad A Bousman","doi":"10.1007/s00439-026-02820-x","DOIUrl":"https://doi.org/10.1007/s00439-026-02820-x","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147493692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients. 神经鞘瘤患者多结节性神经鞘瘤体细胞分析后诊断为花叶性nf2相关神经鞘瘤的频率较高。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-03-13 DOI: 10.1007/s00439-026-02825-6
Matthieu Peyre, Cécile Barbance, Suzanne Tran, Laurence Pacot, Benoît Terris, Michel Kalamarides, Béatrice Parfait
{"title":"High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.","authors":"Matthieu Peyre, Cécile Barbance, Suzanne Tran, Laurence Pacot, Benoît Terris, Michel Kalamarides, Béatrice Parfait","doi":"10.1007/s00439-026-02825-6","DOIUrl":"https://doi.org/10.1007/s00439-026-02825-6","url":null,"abstract":"<p><p>Following the recent introduction of molecular diagnosis criteria for schwannomatosis, we decided to study the results of somatic molecular testing in patients with a tumor burden suggestive of non-NF2-related Schwannomatosis, with a particular focus on patients harboring multi-nodular schwannomas. We selected 22 patients harboring multiple peripheral nerve schwannomas, with or without associated lumbar schwannomas after a brain and spine MRI workup ruling out cranial nerve schwannomas, meningiomas and ependymomas. For each patient, at least 2 separate anatomically distinct tumor nodules were available for analysis. We distinguished mono-nodular from multi-nodular tumors and performed targeted sequencing of the NF2, SMARCB1 and LZTR1 genes for all tumors and germline DNA when available. We analyzed 69 tumor nodules in 22 patients, 19 of whom had a non-familial disease. Most patients (54%) had a diffuse schwannomatosis. Following germline and somatic genetic analysis, 11 patients were diagnosed with LZTR1-related schwannomatosis (50%), 3 patients with possible LZTR1- or SMARCB1-related Schwannomatosis (14%), 7 patients with mosaic NF2-related Schwannomatosis (32%), and 1 patient with 22q-related schwannomatosis (4%). Patients with multi-nodular schwannomas (n = 9), all with a non-familial disease, harbored a mosaic NF2-related Schwannomatosis in a majority of cases (5/9; 55%; p = 0.02), while patients with mononodular schwannomas harbored more frequently a LZTR1-related Schwannomatosis (9/13; 69%; p = 0.03). This study illustrates the underestimated high frequency of mosaic NF2-related schwannomatosis in patients harboring multi-nodular peripheral nerve schwannomas. As multi-nodular schwannomas are associated with higher surgical morbidity, the pivotal role of the NF2 gene in their tumorigenesis opens perspectives for Schwannomatosis research.</p>","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147456811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genomics workforce views on automating genomic reanalysis: trust, equity and governance. 基因组学工作人员对自动化基因组再分析的看法：信任、公平和治理。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-03-05 DOI: 10.1007/s00439-026-02824-7
Emily A King, Fiona Lynch, Zornitza Stark, Danya F Vears
{"title":"Genomics workforce views on automating genomic reanalysis: trust, equity and governance.","authors":"Emily A King, Fiona Lynch, Zornitza Stark, Danya F Vears","doi":"10.1007/s00439-026-02824-7","DOIUrl":"10.1007/s00439-026-02824-7","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12963070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147354824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Understanding the public's intention to adopt CRISPR-Cas9: the effect of beliefs, knowledge, and innovativeness. 了解公众采用CRISPR-Cas9的意图：信念、知识和创新的影响。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-03-02 DOI: 10.1007/s00439-026-02822-9
Jasmine Melamed, Sivia Barnoy
{"title":"Understanding the public's intention to adopt CRISPR-Cas9: the effect of beliefs, knowledge, and innovativeness.","authors":"Jasmine Melamed, Sivia Barnoy","doi":"10.1007/s00439-026-02822-9","DOIUrl":"10.1007/s00439-026-02822-9","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12953347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147325721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Higher mitochondrial DNA methylation is associated with increased risk of stroke: a nested case-control study. 较高的线粒体DNA甲基化与卒中风险增加有关：一项嵌套病例对照研究。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-02-28 DOI: 10.1007/s00439-026-02823-8
Xueru Fu, Yuewan Fang, Yujie Zhao, Bin Yang, Yaqin Su, Li Yang, Weifeng Huo, Liuding Wen, Yuying Wu, Yang Zhao, Fulan Hu, Ming Zhang, Hongwei Wen, Lei Yin, Dongsheng Hu, Chuande Chen
{"title":"Higher mitochondrial DNA methylation is associated with increased risk of stroke: a nested case-control study.","authors":"Xueru Fu, Yuewan Fang, Yujie Zhao, Bin Yang, Yaqin Su, Li Yang, Weifeng Huo, Liuding Wen, Yuying Wu, Yang Zhao, Fulan Hu, Ming Zhang, Hongwei Wen, Lei Yin, Dongsheng Hu, Chuande Chen","doi":"10.1007/s00439-026-02823-8","DOIUrl":"10.1007/s00439-026-02823-8","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147316876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly. SMG5的一种纯合同义变异，编码一种无义介导的mRNA衰变因子，导致发育迟缓，包括生长迟缓和相对的大头畸形。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-02-27 DOI: 10.1007/s00439-025-02813-2
Debora Tibbe, Tess Holling, Michael Spohn, Malik Alawi, Sheela Nampoothiri, Kerstin Kutsche
{"title":"A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly.","authors":"Debora Tibbe, Tess Holling, Michael Spohn, Malik Alawi, Sheela Nampoothiri, Kerstin Kutsche","doi":"10.1007/s00439-025-02813-2","DOIUrl":"https://doi.org/10.1007/s00439-025-02813-2","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147305221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency. 凝血因子XI缺乏症27例临床特点及遗传变异谱分析。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-02-24 DOI: 10.1007/s00439-026-02819-4
Juan Ren, Yalin Yu, Duanyang Wang, Shuai Fang, Xiuhua Chen, Lixia Hao, Jiaoyu Zhao, Lei Wang, Linhua Yang, Gang Wang
{"title":"Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.","authors":"Juan Ren, Yalin Yu, Duanyang Wang, Shuai Fang, Xiuhua Chen, Lixia Hao, Jiaoyu Zhao, Lei Wang, Linhua Yang, Gang Wang","doi":"10.1007/s00439-026-02819-4","DOIUrl":"https://doi.org/10.1007/s00439-026-02819-4","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147283443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies. NR6A1变异是导致先天性肾、椎体和子宫异常的原因。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-02-24 DOI: 10.1007/s00439-025-02806-1
Adeline Jacquinet, Lydie Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville, Carol Saunders, Anna Lehman, Catherine Pienkowski, Karine Morcel, Daniel Guerrier, Vincent Bours, Bernard Peers
{"title":"Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies.","authors":"Adeline Jacquinet, Lydie Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville, Carol Saunders, Anna Lehman, Catherine Pienkowski, Karine Morcel, Daniel Guerrier, Vincent Bours, Bernard Peers","doi":"10.1007/s00439-025-02806-1","DOIUrl":"10.1007/s00439-025-02806-1","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147283504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis. 地平线：通过快速自动acmg对齐的致病性分析来解释CNV。
IF 3.6 2区 生物学
Human Genetics Pub Date : 2026-02-19 DOI: 10.1007/s00439-026-02821-w
Mariam Eldesouky, Suhana Shiyas, Amirul Islam, Md Nahid Hasan, Md Tanvir Hossain, Hosneara Akter, Md Saiful, Bakhrom K Berdiev, Wolfgang M Kuebler, Proton Rahman, Marc Woodbury-Smith, Syed M Hasan, Mohammed Uddin, Nasna Nassir
{"title":"Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis.","authors":"Mariam Eldesouky, Suhana Shiyas, Amirul Islam, Md Nahid Hasan, Md Tanvir Hossain, Hosneara Akter, Md Saiful, Bakhrom K Berdiev, Wolfgang M Kuebler, Proton Rahman, Marc Woodbury-Smith, Syed M Hasan, Mohammed Uddin, Nasna Nassir","doi":"10.1007/s00439-026-02821-w","DOIUrl":"10.1007/s00439-026-02821-w","url":null,"abstract":"","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":"23"},"PeriodicalIF":3.6,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12920333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146226603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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