Characteristics of the MAPK gene family in Zizania latifolia and MAPK3 role in response to fungal pathogen infection [0.03%]
宽叶泽泻MAPK基因家族特征及MAPK3响应真菌侵染的调控作用
Lijun Xu,Pengfei Guo,Yong Kuang et al.
Lijun Xu et al.
The stems of Zizania latifolia, an important vegetable in China, are targeted by the pathogen Ustilago esculenta, triggering a response through the mitogen-activated protein kinase (MAPK) signalling pathway. To investigate the characteristi...
NGLY1-CDDG: report of two cases from India and brief review of literature [0.03%]
NGLY1缺乏症的印度病例报告及文献综述
Mihika B Dave,Vrajesh P Udani,Anaita U Hegde et al.
Mihika B Dave et al.
N-glycanase1 (NGLY1) deficiency, an autosomal recessive disorder identified a decade ago, is categorized as a congenital disorder of deglycosylation (CDDG). This disorder arises from bi-allelic variants in the NGLY1 gene, leading to impaire...
On the reversibility of RNA deamination versus RNA methylation: exploring the proximate and ultimate causes [0.03%]
关于RNA脱氨基作用与甲基化作用的可逆性：探究近因与终极原因
Yuange Duan,Qi Cao
Yuange Duan
RNA modifications play a crucial role in regulating gene expression, splicing, decoding, translation, and degradation. Among the most studied modifications are adenosine-to-inosine (A-to-I) RNA editing and N6-methyladenosine (m6A). While m6...
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population [0.03%]
遗传分析揭示了近亲MCPH家系中MCPH12位点的精确定位以及巴基斯坦人群中CDK6反复变异[c.589G>A，p.(Ala197Thr)]的创始人效应
Muzammil Ahmad Khan,Jasmin Blatterer,Markus Kuster et al.
Muzammil Ahmad Khan et al.
Primary microcephaly (MCPH) is an autosomal recessive condition of reduced head circumference due to a small cerebral cortex. Genetic studies have reported 30 MCPH genes. The aim of this study was to investigate whether the genetic mapping ...
Yong Shi,Ran Xue,Qi Zheng et al.
Yong Shi et al.
Heterotrimeric G-proteins are multifunctional modulators that participate in a wide range of growth and developmental processes in eukaryotic species, including yeast, plants, and animals. In this study, we characterized a maize mutant, ct2...
Understanding the prevalence of germline oncogenic biomarker variants across the Indian population [0.03%]
了解遗传性致癌生物标志物变异在印度人群中的流行率
Aastha Vatsyayan,Rahul C Bhoyar,Mohamed Imran et al.
Aastha Vatsyayan et al.
Genomic biomarkers are essential aspects of personalized medicine. They offer an opportunity for early detection and appropriate intervention, thereby leading to improved patient outcomes and cost-effective treatment. However, different pop...
A fine balancer: commemorating 40 years of the Journal of Genetics's revival [0.03%]
一丝不苟的平衡者——纪念Journal of Genetics杂志复刊四十周年
Durgadas P Kasbekar
Durgadas P Kasbekar
The Journal of Genetics, started by William Bateson in 1910, played a distinguished role in the early years of genetics. However, it stopped publishing in 1978. The Indian Academy of Sciences revived it in 1985, and has published it regular...
Analysis of tandem repeats in seven telomere-to-telomere primate genomes [0.03%]
七个端对端完整组装的灵长类基因组中的串联重复序列分析
Anukrati Sharma,Divya Tej Sowpati
Anukrati Sharma
Tandem repeats (TRs) are highly polymorphic low complexity regions present in all the genomes. The length variation in TRs, particularly that of short TRs (STRs), is associated with several cellular functions such as gene expression and gen...
Mapping and gene cloning of a wheat mutant dsc with dwarf and compacted spikes [0.03%]
小麦矮密穗突变体dsc的图位克隆
Ying Xue,Junchang Li,Yumei Jiang et al.
Ying Xue et al.
Plant height and spikelet density are two important traits for wheat (Triticum aestivum L.) yield. The development of wheat mutants not only provides new genetic resources for wheat improvement but also facilitates our understanding of the ...
Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndrome [0.03%]
RAI1非编码外显子1-2的缺失导致史密斯-马格尼斯综合征
Uri Hamiel,Alina Kurolap,Chofit Chai Gadot et al.
Uri Hamiel et al.
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay and a typical behavioral phenotype. Interstitial 17p11.2 deletions, which include the RAI1 gene are detected in >90% of patients, while single n...
Case Reports
Journal of genetics. 2025:104:9. DOI: 2025