Article
Medical Laboratory Technology
Xiaoyu Zhang, Shuwen Wang, Shaoqiu Leng, Qi Feng, Yanqi Zhang, Shuqian Xu, Lei Zhang, Xinsheng Zhang, Yunhai Fang, Jun Peng, Zi Sheng
Summary: The study identified 11 F7 mutations, including four novel mutations, in patients with hereditary FVII deficiency. The mutations impacted various domains of the FVII protein and were found to be associated with mRNA regulatory sequences. The findings shed light on the pathogenesis of the disease and may contribute to the development of treatments.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Medical Laboratory Technology
Ruimin Cai, Yi Li, Wei Xu, Xue Gao, Qiang Feng
Summary: We report a pedigree of congenital factor VII deficiency, in which a novel combination of compound heterozygous mutations (c.64G>A, p.Gly22Ser and c.1027G>A, p.Gly343Ser) in the F7 gene was identified. The mutations were predicted to be damaging and disease-causing. This study expands the mutant library and contributes to understanding the pathogenesis of hereditary FVII deficiency.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Review
Medical Laboratory Technology
Hua Tang, Xingzhao Luan, Jiaqi Li, Gen Jiang, Haowen Zhen, Hao Li, Wei Xiang, Jie Zhou
Summary: This article reports a case of congenital factor VII deficiency, and genetic analysis revealed two compound heterozygous mutations, which have not been previously reported. These mutations are believed to be responsible for the reduced factor VII activity and abnormal clotting in the patient after brain surgery.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Biochemistry & Molecular Biology
Joanne Watson, Michael Smith, Chiara Francavilla, Jean-Marc Schwartz
Summary: The correct subcellular localisation of proteins is crucial for their function, and can be quickly interpreted using the SubcellulaRVis tool.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Hematology
Can Lou, Jiali Jiang, Weizhi Chen, Zhili Zhang, Guanqun Xu, Yu Liu, Jing Dai, Qiulan Ding, Xuefeng Wang, Hongying Wei, Youwei Wu, Qin Xu, Wenman Wu
Summary: This study investigated 50 unrelated Chinese patients with Hereditary factor VII (FVII) deficiency and identified a total of 25 mutations in the F7 gene, including missense and splicing mutations. The c.1224T>G (p.His408Gln) mutation in exon 9 was found to be a hotspot, present in 19 patients. The study also discovered eight novel mutations and confirmed their functional consequences through in vitro expression and functional studies.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Plant Sciences
Sha Wang, Xinhui Zhang, Bianbian Li, Xueqing Zhao, Yu Shen, Zhaohe Yuan
Summary: In this study, 65 bZIP genes were identified and analyzed in pomegranate. The expression patterns of these genes varied in different developmental stages and tissues of pomegranate, and two candidate genes related to anthocyanin accumulation were identified. Functional experiments showed that these genes promoted anthocyanin accumulation in tobacco and Arabidopsis.
Article
Biochemistry & Molecular Biology
Gui-Zhen Chen, Jie Huang, Zhi-Cong Lin, Fei Wang, Song-Min Yang, Xiao Jiang, Sagheer Ahmad, Yu-Zhen Zhou, Siren Lan, Zhong-Jian Liu, Dong-Hui Peng
Summary: This study identified 15 WOX transcription factors in sacred lotus and analyzed their gene structures, conservation motifs, and promoter regions' regulatory elements. The findings suggest that NnWOXs are involved in organ development and differentiation of sacred lotus, as well as potential roles in growth, development, and metabolic regulation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Plant Sciences
Bianbian Li, Yujie Zhao, Sha Wang, Xinhui Zhang, Yongwei Wang, Yu Shen, Zhaohe Yuan
Summary: Pomegranate is a valuable tree species with nutritional, medicinal, ornamental, and ecological values. Our study identified and analyzed 15 SPL genes in the pomegranate genome, showing their important roles in floral transition and flower development. The PgSPL genes exhibited distinct temporal and spatial expression characteristics in different tissues and developmental stages, providing insights into the growth and response mechanisms of pomegranate plants.
Article
Biochemistry & Molecular Biology
Muhammad Aamir Manzoor, Irfan Ali Sabir, Iftikhar Hussain Shah, Han Wang, Zhao Yu, Faiz Rasool, Muhammad Zaid Mazhar, Shoaib Younas, Muhammad Abdullah, Yongping Cai
Summary: The GATA gene family was identified and analyzed in four Rosaceae genomes, revealing the structural characteristics and properties of the gene family through comparative analysis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Xinhui Zhang, Sha Wang, Yuan Ren, Chengyan Gan, Bianbian Li, Yaoyuwei Fan, Xueqing Zhao, Zhaohe Yuan
Summary: Members of the SWEET family play important roles in sugar transport, plant growth, and development. This study explored the SWEET family in pomegranate and discovered the effects of tripotassium phosphate and plant exogenous hormone treatments on the expression patterns of PgSWEETs. The findings provide valuable insights for further functional verification and regulation of sugar metabolism pathways in PgSWEETs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Hematology
Anzi Wang, Dongyun Su, Yanrong Chen, Yuhan Fu, Xiaoyan Tan, Jingyuan Luo, Jie Wang, Yue Li, Shu Chen
Summary: This study identified mutations causing FVII deficiency in two Chinese patients and explained the genotype-phenotype association. Four different mutations were detected, including two novel mutations. The identification of F7 mutations is important for genetic counseling and accurate prediction of inheritance patterns.
BLOOD COAGULATION & FIBRINOLYSIS
(2022)
Editorial Material
Hematology
Daniel J. Hampshire
Summary: Among rare bleeding disorders, factor VII deficiency is the most common, but it is challenging to correlate deficiency with bleeding phenotype. In their study, Lou and colleagues investigate a large cohort of unrelated factor VII deficient patients, providing further perspective on the link between genotype and phenotype in this disorder.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Multidisciplinary Sciences
Yen-Hua Huang, Tzu-Chien Su, Chung-Hsing Wang, Siew-Lee Wong, Yin-Hsiu Chien, Yu-Tai Wang, Wuh-Liang Hwu, Ni-Chung Lee
Summary: Illumina RNA-seq analysis was used to characterize the whole transcriptomes of PBMCs from patients with congenital generalized lipodystrophy. The study identified pathogenic mutations in the BSCL2 gene in all CGL2 patients and explored gene expression patterns associated with clinical symptoms.
Article
Plant Sciences
Ye Dong, Youning Wang, Mingshuang Tang, Wang Chen, Yi Chai, Wenli Wang
Summary: Plant defensins play a significant role in the physiological metabolism, growth, and development of plants and possess antibacterial properties. This study identified and characterized the TaPDFs family in wheat, maize, and rice. Subcellular localization analysis showed that TaPDF4.9 and TaPDF2.15 were mainly located in the cell membrane and cytoplasm and TaPDF4.9 was also found in the nucleus. These defensins could effectively inhibit the infection of Phytophthora infestans strain '88069'.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Plant Sciences
Quancan Hou, Linlin Wang, Yuchen Qi, Tingwei Yan, Fan Zhang, Wei Zhao, Xiangyuan Wan
Summary: This study identified 58 ZmSBT genes from the maize genome and conducted a comprehensive investigation of their characteristics. The analysis showed that ZmSBTs have conserved functions and are expressed in different tissues and in response to specific stress. The study also revealed the specific expression pattern of ZmSBTs during maize anther development and their subcellular localization.
PLANT PHYSIOLOGY AND BIOCHEMISTRY
(2023)