Human Cell最新文献_第3页

Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene. 通过校正 CaSR 基因第 6 外显子的杂合突变，产生 CRISPR/Cas9 改造的人类 iPSC 株。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-10-24 DOI: 10.1007/s13577-024-01135-1

P I Semenova, A V Panova, J V Sopova, O A Krasnova, V I Turilova, T K Yakovleva, K S Kulikova, D A Petrova, S L Kiselev, I E Neganova

{"title":"Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.","authors":"P I Semenova, A V Panova, J V Sopova, O A Krasnova, V I Turilova, T K Yakovleva, K S Kulikova, D A Petrova, S L Kiselev, I E Neganova","doi":"10.1007/s13577-024-01135-1","DOIUrl":"10.1007/s13577-024-01135-1","url":null,"abstract":"The calcium-sensing receptor (CaSR) gene encodes a cell membrane G protein-coupled receptor (GPCR) which has a key role in maintaining the extracellular Ca2+ homeostasis. We aimed at correcting the compound heterozygous mutation in the 6th [c.1656delA, p.I554SfsX73] and 7th [c.2217 T > A, p.C739X] exons of the CASR gene which the original patient-derived iPSC line had. The mutation is associated with neonatal severe primary hyperparathyroidism of the patient. We generated and characterized a CRISP/Cas9-edited hiPSC line with the restored sequence in the sixth exon of the CASR gene, bearing only heterozygous mutation in the 7th exon. The results showed that the new genetically modified cell line has karyotype without abnormalities, typical hiPSCs morphology, characteristic expression of pluripotency markers, and ability to develop into three germ layers, and differentiates in chondrogenic, adipogenic, osteogenic directions. This new cell line will complement the existing pool of CaSR-mutated cell lines, a valuable resource for in-depth understanding of neonatal severe primary hyperparathyroidism. This will allow further exploration of the application of pharmacological drugs in the context of personalized medicine to correct Ca-homeostasis disorders.","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Interaction of SARS-CoV-2 Spike protein with ACE2 induces cortical actin modulation, including dephosphorylation of ERM proteins and reduction of cortical stiffness. SARS-CoV-2 Spike 蛋白与 ACE2 的相互作用可诱导皮质肌动蛋白的调节，包括 ERM 蛋白的去磷酸化和皮质硬度的降低。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-10-22 DOI: 10.1007/s13577-024-01142-2

Thi Ly Do, Kouichi Tachibana, Norio Yamamoto, Kiyoshi Ando, Takaaki Isoda, Takanori Kihara

引用次数: 0

High prevalence of chromosome 17 in breast cancer micronuclei: a means to get rid of tumor suppressors? 乳腺癌微核中 17 号染色体的高流行率：摆脱肿瘤抑制因子的手段？

IF 3.4 3区生物学

Human Cell Pub Date : 2024-10-22 DOI: 10.1007/s13577-024-01143-1

Laxmi Kumari, Sreejesh Sreedharanunni, Divya Dahiya, Pranab Dey, Alka Bhatia

{"title":"High prevalence of chromosome 17 in breast cancer micronuclei: a means to get rid of tumor suppressors?","authors":"Laxmi Kumari, Sreejesh Sreedharanunni, Divya Dahiya, Pranab Dey, Alka Bhatia","doi":"10.1007/s13577-024-01143-1","DOIUrl":"https://doi.org/10.1007/s13577-024-01143-1","url":null,"abstract":"Micronuclei (MN), defined as small extra-nuclear chromatin bodies enclosed by a nuclear envelope, serve as noticeable markers of chromosomal instability (CIN). The MN have been used for breast cancer (BC) screening, diagnosis, and prognosis. However, more recently they have gained attention as seats for active chromosomal rearrangements. BC subtypes exhibit differential CIN levels and aggressiveness. This study aimed to investigate MN chromosomal contents across BC subtypes, exploring its potential role in aggressiveness and pathogenesis. Immunostaining of BC cells was performed with anti-centromeric antibody followed by confocal microscopy. Further, fluorescence in situ hybridization (FISH) was done to check the presence of specific chromosomes in the MN. The real time PCR was also done from the RNA isolated from MN to check the expression of TP53 gene. BC cell lines (CLs) showed the presence of both centromere-positive ( +) and -negative ( -) MN, with significant variation in frequency among hormone and human epidermal growth factor receptor positive and triple-negative (TN) BC cells. FISH targeting chromosomes 1, 3, 8, 11, and 17 detected centromeric signals for all the above chromosomes in MN with a relatively higher prevalence of chromosome 17 in all the CLs. Out of all the CLs, TNBC cells demonstrated the highest frequency of centromere + and chromosome 17 + MN. TP53 expression could also be demonstrated inside the MN by FISH and real time PCR. Patient sample imprints also confirmed the presence of chromosome 17 in MN with polysomy of the same in corresponding nuclei. The high prevalence of chromosome 17 in BC MN may connote the importance of its rearrangements in the pathogenesis of BC. Further, the higher prevalence of chromosome 17 and 1 signals in TNBC MN point towards the significance of pathogenetic events involving the genes located in these chromosomes in evolution of this more aggressive phenotype.","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Autophagy activation ameliorates the fibrosis of trabecular meshwork cells induced by TGFβ2 through the promotion of fibrotic proteins degradation. 通过促进纤维化蛋白降解，自噬激活可改善小梁网细胞在 TGFβ2 诱导下的纤维化。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-10-22 DOI: 10.1007/s13577-024-01141-3

Gang Wang, Rumeng Zhao, Zhenyang Guo, Huiling Cui, Di Wang, Jing Ren, Shichao Zhu, Ke Zhang, Bo Tang, Jingyi Zhang, Peng Li, Shichao Duan, Haijun Li

{"title":"Autophagy activation ameliorates the fibrosis of trabecular meshwork cells induced by TGFβ2 through the promotion of fibrotic proteins degradation.","authors":"Gang Wang, Rumeng Zhao, Zhenyang Guo, Huiling Cui, Di Wang, Jing Ren, Shichao Zhu, Ke Zhang, Bo Tang, Jingyi Zhang, Peng Li, Shichao Duan, Haijun Li","doi":"10.1007/s13577-024-01141-3","DOIUrl":"10.1007/s13577-024-01141-3","url":null,"abstract":"The level of transforming growth factor-beta2 (TGFβ2) is elevated in aqueous humor of partial glaucoma patients, and induced trabecular meshwork (TM) fibrosis, which could cause TM cells dysfunction and lead to intraocular pressure (IOP) elevation. Autophagy is a dynamic process of bulk degradation of organelles and proteins under stress condition, while its functions in fibrotic development remain controversial. Meanwhile, it is still unclear if activation of autophagy could ameliorate TGFβ2-induced fibrosis in TM cells. In this study, we demonstrated that autophagy activation with Rapamycin or Everolimus could ameliorate TM fibrosis induced by TGFβ2. We also proved that activation of autophagy may decrease TM cells fibrosis and reduce elevated IOP induced by TGFβ2 in vivo, while Rapamycin or Everolimus has no effect on TGFβ/Smad3 pathway activity and fibrotic genes expression. However, when Chloroquine phosphate blocks autophagy-lysosome pathway, the protective effect of Rapamycin or Everolimus on fibrosis was weakened. We established that autophagy activation ameliorates TM fibrosis through promoting fibrotic proteins degradation.","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Application of hydrogel-loaded dental stem cells in the field of tissue regeneration. 水凝胶负载牙科干细胞在组织再生领域的应用。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-10-22 DOI: 10.1007/s13577-024-01134-2

Xiaolan Wang, Zejun Zheng, Ying Zhang, Jinmeng Sun, Jian Liu, Yunxia Liu, Gang Ding

引用次数: 0

ST3GAL4 promotes tumorigenesis in breast cancer by enhancing aerobic glycolysis. ST3GAL4 通过增强有氧糖酵解促进乳腺癌的肿瘤发生。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-10-18 DOI: 10.1007/s13577-024-01137-z

Xiaoqing Chen, Weijie Su, Jiewen Chen, Peng Ouyang, Jin Gong

{"title":"ST3GAL4 promotes tumorigenesis in breast cancer by enhancing aerobic glycolysis.","authors":"Xiaoqing Chen, Weijie Su, Jiewen Chen, Peng Ouyang, Jin Gong","doi":"10.1007/s13577-024-01137-z","DOIUrl":"10.1007/s13577-024-01137-z","url":null,"abstract":"Sialyltransferases are enzymes that play a crucial role in regulating cancer progression by modifying glycoproteins through sialylation. In particular, the ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4) enzyme is known to be upregulated in breast cancer, but its specific biological functions have not been fully understood. This study aimed to investigate the impact and mechanisms of ST3GAL4 on aerobic glycolysis in breast cancer. We examined ST3GAL4 expression in tumor tissue samples and breast cancer cell lines and also manipulated ST3GAL4 expression in breast cancer cells using lentivirus transduction. The study evaluated cellular processes such as cell viability, cell cycle progression, and aerobic glycolysis by measuring parameters like extracellular acidification rate, glucose uptake, lactate production, and lactate dehydrogenase A (LDHA) expression. We found that ST3GAL4 expression was consistently increased in tumor tissues and breast cancer cell lines. High ST3GAL4 expression was associated with a poor prognosis for patients with breast cancer. Inhibiting ST3GAL4 expression decreased cell viability, disrupted cell cycle progression, and reduced aerobic glycolysis and LDHA expression. Furthermore, suppressing ST3GAL4 expression in animal models reduced tumor growth and cell proliferation. Conversely, overexpressing ST3GAL4 promoted cell viability and cell cycle progression, but these effects were reversed when an inhibitor of aerobic glycolysis was used. The study provided evidence in cells and animal models that ST3GAL4 promotes tumorigenesis in breast cancer by enhancing aerobic glycolysis. These findings suggest that targeting ST3GAL4 may be a potential strategy for the treatment of breast cancer.","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of neutrophils in chronic cough. 中性粒细胞在慢性咳嗽中的作用。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-09-01 Epub Date: 2024-06-24 DOI: 10.1007/s13577-024-01089-4

Guan-Zhen Xue, Hai-Zhen Ma, Ta-Na Wuren

引用次数: 0

Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene. 从一名携带 SCL19A3 基因同源致病性错义变体的沙特籍生物素-硫胺素反应性基底节疾病（BTBGD）患者身上衍生出两个 iPSC 株系（KAIMRCi004-A、KAIMRCi004-B）。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-09-01 Epub Date: 2024-07-09 DOI: 10.1007/s13577-024-01097-4

Maryam Alowaysi, Moayad Baadhaim, Mohammad Al-Shehri, Hajar Alzahrani, Amani Badkok, Hanouf Attas, Samer Zakri, Seham Alameer, Dalal Malibari, Manal Hosawi, Mustafa Daghestani, Khalid Al-Ghamdi, Mohammed Muharraq, Asima Zia, Jesper Tegne, Majid Alfadhel, Doaa Aboalola, Khaled Alsayegh

{"title":"Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.","authors":"Maryam Alowaysi, Moayad Baadhaim, Mohammad Al-Shehri, Hajar Alzahrani, Amani Badkok, Hanouf Attas, Samer Zakri, Seham Alameer, Dalal Malibari, Manal Hosawi, Mustafa Daghestani, Khalid Al-Ghamdi, Mohammed Muharraq, Asima Zia, Jesper Tegne, Majid Alfadhel, Doaa Aboalola, Khaled Alsayegh","doi":"10.1007/s13577-024-01097-4","DOIUrl":"10.1007/s13577-024-01097-4","url":null,"abstract":"The neurometabolic disorder known as biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive condition linked to bi-allelic pathogenic mutations in the SLC19A3 gene. BTBGD is characterized by progressive encephalopathy, confusion, seizures, dysarthria, dystonia, and severe disabilities. Diagnosis is difficult due to the disease's rare nature and diverse clinical characteristics. The primary treatment for BTBGD at this time is thiamine and biotin supplementation, while its long-term effectiveness is still being investigated. In this study, we have generated two clones of induced pluripotent stem cells (iPSCs) from a 10-year-old female BTBGD patient carrying a homozygous mutation for the pathogenic variant in exon 5 of the SLC19A3 gene, c.1264A > G (p.Thr422Ala). We have confirmed the pluripotency of the generated iPS lines and successfully differentiated them to neural progenitors. Because our understanding of genotype-phenotype correlations in BTBGD is limited, the establishment of BTBGD-iPSC lines with a homozygous SLC19A3 mutation provides a valuable cellular model to explore the molecular mechanisms underlying SLC19A3-associated cellular dysfunction. This model holds potential for advancing the development of novel therapeutic strategies.","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11341592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141560144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Targeted inhibition of SUMOylation: treatment of tumors. SUMOylation 的靶向抑制：肿瘤治疗。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-09-01 Epub Date: 2024-06-10 DOI: 10.1007/s13577-024-01092-9

Hongwei Zhao, Panpan Zhao, Chao Huang

引用次数: 0

Carbon quantum dots for the diagnosis and treatment of ophthalmic diseases. 用于诊断和治疗眼科疾病的碳量子点。

IF 3.4 3区生物学

Human Cell Pub Date : 2024-09-01 Epub Date: 2024-08-02 DOI: 10.1007/s13577-024-01111-9

Xi Zhang, Liang Yang, Feng Wang, Ying Su

引用次数: 0