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the Korean Journal of Genetics最新文献

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Is the fundamental pathology in Duchenne's muscular dystrophy caused by a failure of glycogenolysis–glycolysis in costameres? 杜氏肌萎缩症的基本病理是由糖原溶解失败引起的吗?
the Korean Journal of Genetics Pub Date : 2023-01-09 DOI: 10.1007/s12041-022-01410-w
Vishakha Nesari, S. Balakrishnan, U. Nongthomba
{"title":"Is the fundamental pathology in Duchenne's muscular dystrophy caused by a failure of glycogenolysis–glycolysis in costameres?","authors":"Vishakha Nesari, S. Balakrishnan, U. Nongthomba","doi":"10.1007/s12041-022-01410-w","DOIUrl":"https://doi.org/10.1007/s12041-022-01410-w","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"21 1","pages":"1-18"},"PeriodicalIF":0.0,"publicationDate":"2023-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80328551","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
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism 一种新的TNNC1变异与引起婴儿死亡和死产的严重扩张型心肌病相关:种系嵌合体的一个案例
the Korean Journal of Genetics Pub Date : 2023-01-09 DOI: 10.1007/s12041-022-01412-8
R. Udani, Kala F Schilter, Rebecca C. Tyler, Brandon A. Smith, Jaime Wendt-Andrae, Ulrike P. Kappes, G. Scharer, A. Lehman, M. Steinraths, H. Reddi
{"title":"A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism","authors":"R. Udani, Kala F Schilter, Rebecca C. Tyler, Brandon A. Smith, Jaime Wendt-Andrae, Ulrike P. Kappes, G. Scharer, A. Lehman, M. Steinraths, H. Reddi","doi":"10.1007/s12041-022-01412-8","DOIUrl":"https://doi.org/10.1007/s12041-022-01412-8","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"71 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2023-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88105953","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
EMX2OS targeting IGF2BP1 represses Wilms’ tumour stemness, epithelial–mesenchymal transition and metastasis 靶向IGF2BP1的EMX2OS抑制Wilms的肿瘤干性、上皮-间质转移和转移
the Korean Journal of Genetics Pub Date : 2023-01-03 DOI: 10.1007/s12041-022-01411-9
Hong-Mei Zhang, Ming-yu Cui, Zhi-hong Chen
{"title":"EMX2OS targeting IGF2BP1 represses Wilms’ tumour stemness, epithelial–mesenchymal transition and metastasis","authors":"Hong-Mei Zhang, Ming-yu Cui, Zhi-hong Chen","doi":"10.1007/s12041-022-01411-9","DOIUrl":"https://doi.org/10.1007/s12041-022-01411-9","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"54 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2023-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87620752","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
LncRNA TTN-AS1 exacerbates extracellular matrix accumulation via miR-493-3p/FOXP2 axis in diabetic nephropathy. LncRNA TTN-AS1通过miR-493-3p/FOXP2轴加剧糖尿病肾病的细胞外基质积累。
the Korean Journal of Genetics Pub Date : 2022-12-24 DOI: 10.1007/s12041-022-01397-4
Lin Jia, Wenzhe Wang, Hui Liu, F. Zhu, Yunfang Huang
{"title":"LncRNA TTN-AS1 exacerbates extracellular matrix accumulation via miR-493-3p/FOXP2 axis in diabetic nephropathy.","authors":"Lin Jia, Wenzhe Wang, Hui Liu, F. Zhu, Yunfang Huang","doi":"10.1007/s12041-022-01397-4","DOIUrl":"https://doi.org/10.1007/s12041-022-01397-4","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78188043","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
Remnants of SIRE1 retrotransposons in human genome? 人类基因组中SIRE1逆转录转座子的残余物?
the Korean Journal of Genetics Pub Date : 2022-12-17 DOI: 10.1007/s12041-022-01398-3
B. C. Guner, E. Karlik, N. Gozukirmizi
{"title":"Remnants of SIRE1 retrotransposons in human genome?","authors":"B. C. Guner, E. Karlik, N. Gozukirmizi","doi":"10.1007/s12041-022-01398-3","DOIUrl":"https://doi.org/10.1007/s12041-022-01398-3","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"48 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72517072","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
A time-calibrated mitogenomic phylogeny suggests that Korean Hyalessa fuscata is a bridge between Chinese and Japanese H.maculaticollis. 一项时间校准的有丝分裂基因组系统发育研究表明，韩国的褐斑玻璃是中国和日本斑点玻璃之间的桥梁。
the Korean Journal of Genetics Pub Date : 2022-12-14 DOI: 10.1007/s12041-022-01405-7
H. Nguyen, Phuong-Thao Ho, Sungsik Kong, Yoonhyuk Bae, T. Pham, Huyen Thi La, Y. Jang
{"title":"A time-calibrated mitogenomic phylogeny suggests that Korean Hyalessa fuscata is a bridge between Chinese and Japanese H.maculaticollis.","authors":"H. Nguyen, Phuong-Thao Ho, Sungsik Kong, Yoonhyuk Bae, T. Pham, Huyen Thi La, Y. Jang","doi":"10.1007/s12041-022-01405-7","DOIUrl":"https://doi.org/10.1007/s12041-022-01405-7","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"727 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72418402","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
Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7 外显子组测序和微阵列技术在一个罕见的隐性7型CMS病例中发现了SYT2基因的一个新的大外显子缺失
the Korean Journal of Genetics Pub Date : 2022-12-07 DOI: 10.1007/s12041-022-01409-3
C. R. Kumar, P. Tamhankar, Radhika Manohar, S. Sharda, G. Madhavilatha, S. Thenral, Sandhya Nair, A. K. Bojamma
{"title":"Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7","authors":"C. R. Kumar, P. Tamhankar, Radhika Manohar, S. Sharda, G. Madhavilatha, S. Thenral, Sandhya Nair, A. K. Bojamma","doi":"10.1007/s12041-022-01409-3","DOIUrl":"https://doi.org/10.1007/s12041-022-01409-3","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90254652","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
CRISPR-Cas9 F0 knockout approach using predesigned in vitro transcribed guide RNAs partially recapitulates Rx3 function in eye morphogenesis 使用预先设计的体外转录引导rna的CRISPR-Cas9 F0敲除方法部分再现了Rx3在眼睛形态发生中的功能
the Korean Journal of Genetics Pub Date : 2022-12-07 DOI: 10.1007/s12041-022-01408-4
Emilia M. Wysocka, Agata Gonicka, S. Anbalagan
{"title":"CRISPR-Cas9 F0 knockout approach using predesigned in vitro transcribed guide RNAs partially recapitulates Rx3 function in eye morphogenesis","authors":"Emilia M. Wysocka, Agata Gonicka, S. Anbalagan","doi":"10.1007/s12041-022-01408-4","DOIUrl":"https://doi.org/10.1007/s12041-022-01408-4","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81411614","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
Population genetic structure and evolutionary demographic patterns of Phrynoderma karaavali, an edible frog species of Kerala, India 种群遗传结构和进化的人口模式Phrynoderma karaavali,食用青蛙物种的喀拉拉邦,印度
the Korean Journal of Genetics Pub Date : 2022-12-07 DOI: 10.1007/s12041-022-01407-5
V. Anoop, Sanil George
{"title":"Population genetic structure and evolutionary demographic patterns of Phrynoderma karaavali, an edible frog species of Kerala, India","authors":"V. Anoop, Sanil George","doi":"10.1007/s12041-022-01407-5","DOIUrl":"https://doi.org/10.1007/s12041-022-01407-5","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83508864","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
Relationship between leptin gene variants (–2548G>A and 19A>G) and obesity among north Indian Punjabi population 北印度旁遮普人群瘦素基因变异(-2548G >A和19A>G)与肥胖的关系
the Korean Journal of Genetics Pub Date : 2022-12-07 DOI: 10.1007/s12041-022-01401-x
H. Kaur, Veena Bains, Tanmayi Sharma, Pathma Muthukottiappan, Badaruddoza
{"title":"Relationship between leptin gene variants (–2548G>A and 19A>G) and obesity among north Indian Punjabi population","authors":"H. Kaur, Veena Bains, Tanmayi Sharma, Pathma Muthukottiappan, Badaruddoza","doi":"10.1007/s12041-022-01401-x","DOIUrl":"https://doi.org/10.1007/s12041-022-01401-x","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"54 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87042219","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
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