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the Korean Journal of Genetics最新文献

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Many OX PHOS and replication factor mRNAs target mitochondria through specific binding to the organelle surface, independent of co-translational protein import 许多OX PHOS和复制因子mrna通过特异性结合细胞器表面靶向线粒体，不依赖于共翻译蛋白的输入
the Korean Journal of Genetics Pub Date : 2023-02-06 DOI: 10.1007/s12041-022-01414-6
S. Adhya, Milon Banik
{"title":"Many OX PHOS and replication factor mRNAs target mitochondria through specific binding to the organelle surface, independent of co-translational protein import","authors":"S. Adhya, Milon Banik","doi":"10.1007/s12041-022-01414-6","DOIUrl":"https://doi.org/10.1007/s12041-022-01414-6","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"73 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74503304","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
First detection of endopolyploidy in tapetal cells and chromosomal anomalies in meiocytes of Viola pilosa cytotypes (2n=20) from Pir Panjal (Himalayas) 喜马拉雅山Pir Panjal (Himalayas)紫堇(Viola pilosa)细胞型(2n=20)绒毡层细胞内多倍体和减数细胞染色体异常的首次检测
the Korean Journal of Genetics Pub Date : 2023-01-31 DOI: 10.1007/s12041-022-01415-5
T. Iqbal, G. Sharma
{"title":"First detection of endopolyploidy in tapetal cells and chromosomal anomalies in meiocytes of Viola pilosa cytotypes (2n=20) from Pir Panjal (Himalayas)","authors":"T. Iqbal, G. Sharma","doi":"10.1007/s12041-022-01415-5","DOIUrl":"https://doi.org/10.1007/s12041-022-01415-5","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89266973","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
Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion 伊朗常染色体隐性先天性肌病家族HACD1基因新突变的鉴定，伴有纤维型比例失调
the Korean Journal of Genetics Pub Date : 2023-01-24 DOI: 10.1007/s12041-022-01417-3
Neda Jabbarpour, B. Poorshiri, Hassan Saei, M. Barzegar, M. Bonyadi
{"title":"Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion","authors":"Neda Jabbarpour, B. Poorshiri, Hassan Saei, M. Barzegar, M. Bonyadi","doi":"10.1007/s12041-022-01417-3","DOIUrl":"https://doi.org/10.1007/s12041-022-01417-3","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85270215","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
Individuals with T-786C and G894T genotypes of eNOS in Chinese Han population have an increased risk of developing rheumatoid arthritis 中国汉族eNOS T-786C和G894T基因型个体发生类风湿关节炎的风险增加
the Korean Journal of Genetics Pub Date : 2023-01-17 DOI: 10.1007/s12041-022-01400-y
Shaopeng Lin, Daoqiang Lin, Lin Qiu, Yueping Wu, Xin Liu
{"title":"Individuals with T-786C and G894T genotypes of eNOS in Chinese Han population have an increased risk of developing rheumatoid arthritis","authors":"Shaopeng Lin, Daoqiang Lin, Lin Qiu, Yueping Wu, Xin Liu","doi":"10.1007/s12041-022-01400-y","DOIUrl":"https://doi.org/10.1007/s12041-022-01400-y","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"22 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87059315","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
Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene 通过ILDR1基因连锁不平衡分析推测与老年性痴呆相关的snp
the Korean Journal of Genetics Pub Date : 2023-01-10 DOI: 10.1007/s12041-022-01416-4
S. Flores, Alejandro Levi-Monsalve, Juan Pablo Álvarez-Lobo
{"title":"Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene","authors":"S. Flores, Alejandro Levi-Monsalve, Juan Pablo Álvarez-Lobo","doi":"10.1007/s12041-022-01416-4","DOIUrl":"https://doi.org/10.1007/s12041-022-01416-4","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"1 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2023-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77688017","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
Celiac disease-associated loci show considerable genetic overlap with neuropsychiatric diseases but with limited transethnic applicability 乳糜泻相关基因座与神经精神疾病有相当大的遗传重叠，但跨种族适用性有限
the Korean Journal of Genetics Pub Date : 2023-01-10 DOI: 10.1007/s12041-022-01413-7
Nidhika Sharma, Pratibha Banerjee, A. Sood, V. Midha, B. K. Thelma, Sabyasachi Senapati
{"title":"Celiac disease-associated loci show considerable genetic overlap with neuropsychiatric diseases but with limited transethnic applicability","authors":"Nidhika Sharma, Pratibha Banerjee, A. Sood, V. Midha, B. K. Thelma, Sabyasachi Senapati","doi":"10.1007/s12041-022-01413-7","DOIUrl":"https://doi.org/10.1007/s12041-022-01413-7","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"16 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2023-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84735790","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
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
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
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