http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex
( Xin Jiang ),( Yingyu Zhu ),( Huihui Sun ),( Feng Gu ) 대한피부과학회 2021 Annals of Dermatology Vol.33 No.1
Background: Epidermolysis bullosa (EB) is a rare genetic disease with widely different clinical manifestations, but the relationship between genotype and phenotype is not fully understood. In the present study, we recruited a Chinese family in which two members had been diagnosed with localized EB simplex (EBS), with clinical manifestation, including blisters and erosions on the soles of the feet since infancy. Objective: To identify and confirm the genetic variation in a Chinese family diagnosed as localized EBS. Methods: Our study included two patients, other healthy members of the family, and 100 normal controls. Genomic DNA samples were isolated from each participant, and then polymerase chain reaction (PCR) direct sequencing was performed. Results: The results of PCR direct sequencing revealed a novel heterozygous missense mutation in codon 461 of exon 7 of KRT5 (c.1382T>C), which led to an amino acid change (p.L461P) in the patients with EBS but was absent in unaffected family members and 100 unrelated control samples. Conclusion: The present study broadens the mutational spectrum of EBS, and this knowledge could be harnessed for prenatal screening, gene diagnosis, and gene therapy for localized EBS. (Ann Dermatol 33(1) 11∼17, 2021)
ER membrane protein complex subunit 6 (EMC6) is a novel tumor suppressor in gastric cancer
( Xiaokun Wang ),( Yan Xia ),( Chentong Xu ),( Xin Lin ),( Peng Xue ),( Shijie Zhu ),( Yun Bai ),( Yingyu Chen ) 생화학분자생물학회(구 한국생화학분자생물학회) 2017 BMB Reports Vol.50 No.8
The endoplasmic reticulum (ER) membrane protein complex subunit 6 (EMC6) is a novel human autophagy-related molecule. Here, using tissue microarray and immunohistochemistry, we report that EMC6 protein is lost or reduced in glandular cells of patients with gastric adenocarcinoma, compared to normal stomach mucosa. Overexpression of EMC6 in gastric cancer cells inhibited cell growth, migration, invasion, and induced apoptosis and cell cycle arrest at S-phase. Further investigation suggested that EMC6 overexpression in BGC823 human adenocarcinoma gastric cancer cells reduced tumorigenicity in a xenograft model, demonstrating that EMC6 has the characteristics of a tumor suppressor. This is the first study to show that EMC6 induces cell death in gastric cancer cells. The molecular mechanism of how EMC6 functions as a tumor suppressor needs to be further explored. [BMB Reports 2017; 50(8): 411-416]
Ying Yu,Tongyu Zhu 연세대학교의과대학 2022 Yonsei medical journal Vol.63 No.6
Purpose: To investigate the effect and underlying mechanism of RAR related orphan receptor A (RORA) on preeclampsia (PE). Materials and Methods: Differentially expressed genes (DEGs) in four datasets were obtained by using the Venn diagram method. RORA mRNA and protein expressions were detected by qRT-PCR, western blot, and immunohistochemistry. HTR-8/SVneocell viability, proliferation, invasion, migration, and angiogenesis were detected by CCK-8 assay, EdU assay, Transwell, woundhealing assay, and tube formation assay, respectively. The concentration of Ang-1 in cells was assessed using available ELISA kit. Epithelial-mesenchymal transition, proliferation, and angiogenesis-related proteins were detected by western blot. GSEA analysiswere performed for common DEGs, and the expression of enriched pathway-related proteins was also detected. Results: The expression of RORA was increased in PE tissue and HTR-8/SVneo cells. Silencing RORA could promote the migration,invasion, epithelial-mesenchymal transition, proliferation, and angiogenesis of hypoxia-treated HTR-8/SVneo cells. Mechanistically,RORA contributed to the deterioration of PE by activating the JAK2/STAT3 signaling pathway to promote cell proliferation,migration, invasion, and angiogenesis. Conclusion: RORA was up-regulated in PE and affected HTR-8/SVneo cell proliferation, invasion, migration, apoptosis, and angiogenesisvia the JAK2/STAT3 signaling pathway. This provided a novel strategy for the prevention and treatment of PE.