Xiao Rou - Academia.edu (original) (raw)

Papers by Xiao Rou

Research paper thumbnail of Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes

International Journal of Molecular Sciences

Duchenne muscular dystrophy (DMD) is the most common fatal muscle disease, with an estimated inci... more Duchenne muscular dystrophy (DMD) is the most common fatal muscle disease, with an estimated incidence of 1/3500–1/5000 male births, and it is associated with mutations in the X-linked DMD gene encoding dystrophin, the largest known human gene. There is currently no cure for DMD. The large size of the DMD gene hampers exogenous gene addition and delivery. The genetic correction of DMD patient-derived induced pluripotent stem cells (DMD-iPSCs) and differentiation into suitable cells for transplantation is a promising autologous therapeutic strategy for DMD. In this study, using CRISPR/Cas9, the full-length dystrophin coding sequence was reconstructed in an exon-50-deleted DMD-iPSCs by the targeted addition of exon 50 at the junction of exon 49 and intron 49 via homologous-directed recombination (HDR), with a high targeting efficiency of 5/15, and the genetically corrected iPSCs were differentiated into cardiomyocytes (iCMs). Importantly, the full-length dystrophin expression and memb...

Research paper thumbnail of TCSOL Final Project

Research paper thumbnail of Targeted addition of mini-dystrophin into rDNA locus of Duchenne muscular dystrophy patient-derived iPSCs

Biochemical and Biophysical Research Communications, 2021

Duchenne muscular dystrophy (DMD), the most common lethal muscular disorder, affects 1 in 5000 ma... more Duchenne muscular dystrophy (DMD), the most common lethal muscular disorder, affects 1 in 5000 male births. It is caused by mutations in the X-linked dystrophin gene (DMD), and there is no effective treatment currently. Gene addition is a promising strategy owing to its universality for patients with all gene mutations types. In this study, we describe a site-specific gene addition strategy in induced pluripotent stem cells (iPSCs) derived from a DMD patient with exon 50 deletion. By using transcription activator-like effector nickases (TALENickases), the mini-dystrophin cassette was precisely targeted at the ribosomal RNA gene (rDNA) locus via homologous recombination with high targeting efficiency. The targeted clone retained the main pluripotent properties and was differentiated into cardiomyocytes. Significantly, the dystrophin expression and membrane localization were restored in the genetic corrected iPSCs and their derived cardiomyocytes. More importantly, the enhanced spontaneous contraction was observed in modified cardiomyocytes. These results provide a proof of principle for an efficient targeted gene addition for DMD gene therapy and represents a significant step toward precisely therapeutic for DMD.

Research paper thumbnail of PREX2 promotes the proliferation, invasion and migration of pancreatic cancer cells by modulating the PI3K signaling pathway

Oncology letters, 2016

Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchanger factor 2 (PREX2) is a novel regu... more Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchanger factor 2 (PREX2) is a novel regulator of the small guanosine triphosphatase Rac, and has been observed to be implicated in human cancer by inhibiting the activity of phosphatase and tensin homolog (PTEN), thus upregulating the activity of the phosphoinositide 3-kinase (PI3K) signaling pathway. However, the exact role of PREX2 in pancreatic cancer has not been reported to date. In the present study, the expression levels of PREX2 were observed to be frequently increased in pancreatic cancer specimens compared with those in their matched adjacent normal tissues. In addition, PREX2 expression was also frequently upregulated in several pancreatic cancer cell lines, including AsPC-1, BxPC-3, PANC-1 and CFAPC-1, compared with that in the normal pancreatic epithelial cell line HPC-Y5. Overexpression of PREX2 significantly promoted the proliferation, invasion and migration of pancreatic cancer PANC-1 cells, while small interfe...

Research paper thumbnail of Nurses' Perspectives on Family Involvement in Intensive Care

INTERNATIONAL JOURNAL OF CARE SCHOLARS

Objective: The purpose of this study was to explore how nurses perceive the role of the family wh... more Objective: The purpose of this study was to explore how nurses perceive the role of the family while caring for the patients admitted in intensive care of Raja Isteri Pengiran Anak Saleha (RIPAS) Hospital, Brunei. Methods: An exploratory, qualitative design was used to explore nurses' insights on the inputs of family in intensive care. Ten nurses who fit the inclusion criteria were invited using a purposive sampling method. They were individually interviewed and were audio-recorded with the consent of the nurses. These interviews were coded and thematically analysed. Results: Three major themes emerged from the study, including importance of family presence, concern over patient safety and question about family readiness. Conclusion: The results of this study concluded that the family role is expressed through their 'presence' in intensive care which is significant in patient care. The study also identified concern over patient safety and query into the family readiness ...

Research paper thumbnail of Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes

International Journal of Molecular Sciences

Duchenne muscular dystrophy (DMD) is the most common fatal muscle disease, with an estimated inci... more Duchenne muscular dystrophy (DMD) is the most common fatal muscle disease, with an estimated incidence of 1/3500–1/5000 male births, and it is associated with mutations in the X-linked DMD gene encoding dystrophin, the largest known human gene. There is currently no cure for DMD. The large size of the DMD gene hampers exogenous gene addition and delivery. The genetic correction of DMD patient-derived induced pluripotent stem cells (DMD-iPSCs) and differentiation into suitable cells for transplantation is a promising autologous therapeutic strategy for DMD. In this study, using CRISPR/Cas9, the full-length dystrophin coding sequence was reconstructed in an exon-50-deleted DMD-iPSCs by the targeted addition of exon 50 at the junction of exon 49 and intron 49 via homologous-directed recombination (HDR), with a high targeting efficiency of 5/15, and the genetically corrected iPSCs were differentiated into cardiomyocytes (iCMs). Importantly, the full-length dystrophin expression and memb...

Research paper thumbnail of TCSOL Final Project

Research paper thumbnail of Targeted addition of mini-dystrophin into rDNA locus of Duchenne muscular dystrophy patient-derived iPSCs

Biochemical and Biophysical Research Communications, 2021

Duchenne muscular dystrophy (DMD), the most common lethal muscular disorder, affects 1 in 5000 ma... more Duchenne muscular dystrophy (DMD), the most common lethal muscular disorder, affects 1 in 5000 male births. It is caused by mutations in the X-linked dystrophin gene (DMD), and there is no effective treatment currently. Gene addition is a promising strategy owing to its universality for patients with all gene mutations types. In this study, we describe a site-specific gene addition strategy in induced pluripotent stem cells (iPSCs) derived from a DMD patient with exon 50 deletion. By using transcription activator-like effector nickases (TALENickases), the mini-dystrophin cassette was precisely targeted at the ribosomal RNA gene (rDNA) locus via homologous recombination with high targeting efficiency. The targeted clone retained the main pluripotent properties and was differentiated into cardiomyocytes. Significantly, the dystrophin expression and membrane localization were restored in the genetic corrected iPSCs and their derived cardiomyocytes. More importantly, the enhanced spontaneous contraction was observed in modified cardiomyocytes. These results provide a proof of principle for an efficient targeted gene addition for DMD gene therapy and represents a significant step toward precisely therapeutic for DMD.

Research paper thumbnail of PREX2 promotes the proliferation, invasion and migration of pancreatic cancer cells by modulating the PI3K signaling pathway

Oncology letters, 2016

Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchanger factor 2 (PREX2) is a novel regu... more Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchanger factor 2 (PREX2) is a novel regulator of the small guanosine triphosphatase Rac, and has been observed to be implicated in human cancer by inhibiting the activity of phosphatase and tensin homolog (PTEN), thus upregulating the activity of the phosphoinositide 3-kinase (PI3K) signaling pathway. However, the exact role of PREX2 in pancreatic cancer has not been reported to date. In the present study, the expression levels of PREX2 were observed to be frequently increased in pancreatic cancer specimens compared with those in their matched adjacent normal tissues. In addition, PREX2 expression was also frequently upregulated in several pancreatic cancer cell lines, including AsPC-1, BxPC-3, PANC-1 and CFAPC-1, compared with that in the normal pancreatic epithelial cell line HPC-Y5. Overexpression of PREX2 significantly promoted the proliferation, invasion and migration of pancreatic cancer PANC-1 cells, while small interfe...

Research paper thumbnail of Nurses' Perspectives on Family Involvement in Intensive Care

INTERNATIONAL JOURNAL OF CARE SCHOLARS

Objective: The purpose of this study was to explore how nurses perceive the role of the family wh... more Objective: The purpose of this study was to explore how nurses perceive the role of the family while caring for the patients admitted in intensive care of Raja Isteri Pengiran Anak Saleha (RIPAS) Hospital, Brunei. Methods: An exploratory, qualitative design was used to explore nurses' insights on the inputs of family in intensive care. Ten nurses who fit the inclusion criteria were invited using a purposive sampling method. They were individually interviewed and were audio-recorded with the consent of the nurses. These interviews were coded and thematically analysed. Results: Three major themes emerged from the study, including importance of family presence, concern over patient safety and question about family readiness. Conclusion: The results of this study concluded that the family role is expressed through their 'presence' in intensive care which is significant in patient care. The study also identified concern over patient safety and query into the family readiness ...