Genetic screening in the primary care setting is the future of preventative medicine.Genetic testing is an important medical tool for assessing various inheritable diseases,conditions,and cancers.The ability to diagno...Genetic screening in the primary care setting is the future of preventative medicine.Genetic testing is an important medical tool for assessing various inheritable diseases,conditions,and cancers.The ability to diagnose patients before symptoms surface can help lessen the severity of symptoms and promote quality of life.However,genetic screening can cause psychological distress from the knowledge of test results,in some cases only serving to increase the risk of developing a condition due to stress.Genetic testing can be conducted anytime in life,even before birth.In this review,a compilation of genetic testing’s definitions and boundaries,factors influencing an individual’s test outcomes,and an overview of a wide variety of diseases,conditions and cancers were collected.展开更多
The genetic bases and molecular mechanisms involved in the assembly and function of the flagellum components as well as in the regulation of the flagellar movement are not fully understood, especially in humans. There...The genetic bases and molecular mechanisms involved in the assembly and function of the flagellum components as well as in the regulation of the flagellar movement are not fully understood, especially in humans. There are several causes for sperm immotility, of which some can be avoided and corrected, whereas other are related to genetic defects and deserve full investigation to give a diagnosis to patients. This review was performed after an extensive literature search on the online databases PubMed, ScienceDirect, and Web of Science. Here, we review the involvement of regulatory pathways responsible for sperm motility, indicating possible causes for sperm immotility. These included the calcium pathway, the cAMP-dependent protein kinase pathway, the importance of kinases and phosphatases, the function of reactive oxygen species, and how the regulation of cell volume and osmolarity are also fundamental components. We then discuss main gene defects associated with specific morphological abnormalities. Finally, we slightly discuss some preventive and treatments approaches to avoid development of conditions that are associated with unspecified sperm immotility. We believe that in the near future, with the development of more powerful techniques, the genetic causes of sperm immotility and the regulatory mechanisms of sperm motility will be better understand, thus enabling to perform a full diagnosis and uncover new therapies.展开更多
With their capability to undergo unlimited self-renewal and to differentiate into all cell types in the body,in-duced pluripotent stem cells(iPSCs),reprogrammed from somatic cells of human patients with defined fac-to...With their capability to undergo unlimited self-renewal and to differentiate into all cell types in the body,in-duced pluripotent stem cells(iPSCs),reprogrammed from somatic cells of human patients with defined fac-tors,hold promise for regenerative medicine because they can provide a renewable source of autologous cells for cell therapy without the concern for immune rejection.In addition,iPSCs provide a unique opportu-nity to model human diseases with complex genetic traits,and a panel of human diseases have been suc-cessfully modeled in vitro by patient-specific iPSCs.Despite these progresses,recent studies have raised the concern for genetic and epigenetic abnormalities of iPSCs that could contribute to the immunogenicity of some cells differentiated from iPSCs.The oncogenic potential of iPSCs is further underscored by the find-ings that the critical tumor suppressor p53,known as the guardian of the genome,suppresses induced pluripotency.Therefore,the clinic application of iPSCs will require the optimization of the reprogramming technology to minimize the genetic and epigenetic ab-normalities associated with induced pluripotency.展开更多
文摘Genetic screening in the primary care setting is the future of preventative medicine.Genetic testing is an important medical tool for assessing various inheritable diseases,conditions,and cancers.The ability to diagnose patients before symptoms surface can help lessen the severity of symptoms and promote quality of life.However,genetic screening can cause psychological distress from the knowledge of test results,in some cases only serving to increase the risk of developing a condition due to stress.Genetic testing can be conducted anytime in life,even before birth.In this review,a compilation of genetic testing’s definitions and boundaries,factors influencing an individual’s test outcomes,and an overview of a wide variety of diseases,conditions and cancers were collected.
文摘The genetic bases and molecular mechanisms involved in the assembly and function of the flagellum components as well as in the regulation of the flagellar movement are not fully understood, especially in humans. There are several causes for sperm immotility, of which some can be avoided and corrected, whereas other are related to genetic defects and deserve full investigation to give a diagnosis to patients. This review was performed after an extensive literature search on the online databases PubMed, ScienceDirect, and Web of Science. Here, we review the involvement of regulatory pathways responsible for sperm motility, indicating possible causes for sperm immotility. These included the calcium pathway, the cAMP-dependent protein kinase pathway, the importance of kinases and phosphatases, the function of reactive oxygen species, and how the regulation of cell volume and osmolarity are also fundamental components. We then discuss main gene defects associated with specific morphological abnormalities. Finally, we slightly discuss some preventive and treatments approaches to avoid development of conditions that are associated with unspecified sperm immotility. We believe that in the near future, with the development of more powerful techniques, the genetic causes of sperm immotility and the regulatory mechanisms of sperm motility will be better understand, thus enabling to perform a full diagnosis and uncover new therapies.
基金supported by a grant from California Institute for Re-generative Medicine(ET-01277)to Y.X.
文摘With their capability to undergo unlimited self-renewal and to differentiate into all cell types in the body,in-duced pluripotent stem cells(iPSCs),reprogrammed from somatic cells of human patients with defined fac-tors,hold promise for regenerative medicine because they can provide a renewable source of autologous cells for cell therapy without the concern for immune rejection.In addition,iPSCs provide a unique opportu-nity to model human diseases with complex genetic traits,and a panel of human diseases have been suc-cessfully modeled in vitro by patient-specific iPSCs.Despite these progresses,recent studies have raised the concern for genetic and epigenetic abnormalities of iPSCs that could contribute to the immunogenicity of some cells differentiated from iPSCs.The oncogenic potential of iPSCs is further underscored by the find-ings that the critical tumor suppressor p53,known as the guardian of the genome,suppresses induced pluripotency.Therefore,the clinic application of iPSCs will require the optimization of the reprogramming technology to minimize the genetic and epigenetic ab-normalities associated with induced pluripotency.
