پیشرفت‌های کنونی در مدل‌سازی بیماری iPSC، جلد 14 (جلد 14) (پیشرفت‌ها در زیست‌شناسی سلول‌های بنیادی، جلد 14)

__Current Progress in iPSC Disease Modeling, Volume Fourteen__ in the __Advances in Stem Cell Biology__ series, is a timely and expansive collection of information and new discoveries in the field. This new volume addresses advances in research on how induced pluripotent stem cells are used for the creation of new tissues and organs. The creation of iPSC technology allowed the development of disease-specific human pluripotent stem cells. These cells allow researchers to study questions once impossible for some human diseases. This volume addresses iPSCs for vascular tissue engineering, bioprinting, derived lung organoids for pulmonary disorders, skeletal muscle engineering, human kidney organoids, and more. It is written for researchers and scientists in stem cell therapy, cell biology, regenerative medicine and organ transplantation, and is contributed by world-renowned authors in the field. Front Cover Current Progress in iPSC Disease Modeling, Volume 14 Advances in Stem Cell Biology Current Progress in iPSC Disease Modeling, Volume 14 Copyright Dedication Contents Contributors About the editor Alexander Birbrair Preface 1 - Human induced pluripotent stem cell modeling of neurofibromatosis type 1 Introduction NF1 gene Genotype-phenotype correlations Roadblocks to treatment Nf1 genetically engineered mouse models Utility of human induced pluripotent stem cells for NF1 research Brain development and function Mutational specificity Cell-autonomous effects Modeling brain development and function Nervous system tumors Tumor modeling Tumor microenvironment Other NF1 clinical features Future directions References 2 - Use of induced pluripotent stem cells to model inflammatory neurodegeneration and repair in multiple sclerosis Introduction Multiple sclerosis background Utility of animal models to study stem cells in multiple sclerosis Modeling neurological diseases using stem cells Modeling multiple sclerosis with human-derived induced pluripotent stem cells Challenges in the field Future Directions Conclusions References 3 - Induced pluripotent stem cell technology to model chronic mountain sickness Introduction Induced pluripotent stem cell–derived in-vitro erythroid system to study hypoxia-induced excessive erythropoiesis in chroni ... Induced pluripotent stem cell-derived neural cells to study neuropathology in chronic mountain sickness Induced pluripotent stem cell–derived neural cells to study ionic homeostasis in chronic mountain sickness Summary and future directions References 4 - Induced pluripotent stem cells for modeling Noonan, Noonan Syndrome with Multiple Lentigines, and Costello Synd ... Glossary of terms Preface Induced pluripotent stem cells and CRISPR-Cas9 RASopathies and signaling Noonan syndrome Disease modeling of Noonan syndrome Delineating Noonan syndrome–associated cardiac hypertrophy using induced pluripotent stem cell technology Understanding cancer causing Noonan syndrome mutations using induced pluripotent stem cells Noonan Syndrome with Multiple Lentigines Disease modeling of Noonan Syndrome with Multiple Lentigines Delineating Noonan Syndrome with Multiple Lentigines–associated cardiac hypertrophy using induced pluripotent stem cell tec ... Costello Syndrome Costello Syndrome and HRAS Disease modeling of Costello Syndrome Costello Syndrome and induced pluripotent stem cells Limitations and future direction of induced pluripotent stem cell model systems RASopathies and induced pluripotent stem cells: where do we go from here? Conclusions References 5 - Modeling mitochondrial encephalopathy due to MELAS/Leigh overlap syndrome using induced pluripotent stem cells Mitochondrial disease Heteroplasmy and threshold effect Neurological manifestations Mitochondrial dysfunction and induced pluripotent stem cells Role of mitochondria in reprogramming Role of mitochondria in maintenance and proliferation of induced pluripotent stem cells Role of mitochondria in differentiation from induced pluripotent stem cells Future trends References 6 - How induced pluripotent stem cells changed the research status of polycystic ovary syndrome Introduction to stem cells and embryonic stem cells The development of somatic reprogramming Nuclear transfer technique Cell fusion technique Induced pluripotent stem cells Pathological features of polycystic ovary syndrome Progress in polycystic ovary syndrome treatment and research Research on polycystic ovary syndrome Methylation Histone modification Genomic imprinting Long noncoding RNA and microRNA Treatments for polycystic ovary syndrome Application of induced pluripotent stem cells in polycystic ovary syndrome disease research The application of induced pluripotent stem cells The induced pluripotent stem cell disease model of polycystic ovary syndrome References 7 - Modeling inherited retinal dystrophies using induced pluripotent stem cells Introduction Retina: architecture and function Retinal degeneration: inherited retinal dystrophy Stem cells Embryonic and induced pluripotent stem cells Methods of obtaining induced pluripotent stem cell Disease modeling Clinical assessment of inherited retinal dystrophies Inherited retinal dystrophy research using patient tissue or animal models Pluripotent stem cell differentiation into retinal cell types Retinal pigment epithelium Neural retina: organoid systems Neural retina: photoreceptors Induced pluripotent stem cell disease models of inherited retinal dystrophies Retinitis pigmentosa Leber congenital amaurosis Choroideremia Bestrophinopathy (best disease) Stargardt maculopathy Conclusion and caveats References 8 - Modeling hereditary spastic paraplegias using induced pluripotent stem cells Introduction Cellular pathogenic themes in hereditary spastic paraplegia Membrane modeling and shaping Vesicular transport along axons Impairment in lipid/sterol metabolism Endolysosomal and autophagic dysfunction Modeling different types of hereditary spastic paraplegia using induced pluripotent stem cells Autosomal dominant hereditary spastic paraplegia SPG4 SPG3A Autosomal recessive hereditary spastic paraplegia SPG5 SPG11, SPG15, and SPG48 Other types of hereditary spastic paraplegia Challenges and future directions Heterogeneity and functional maturation of induced pluripotent stem cell–derived neurons Recapitulation of synaptic and circuitry defects Interplay of multiple pathogenic mechanisms Identification of therapeutic approaches References 9 - Induced pluripotent stem cells for modeling Smith–Magenis syndrome Introduction The genetics of Smith–Magenis syndrome Diagnostic test Clinical presentation of Smith–Magenis syndrome Disease onset, diagnosis, and symptomatology Brain structural abnormalities Behavioral, neurodevelopmental, and cognitive aspects Sleepwake cycle dysfunction Eating disorders, auxologic and nutritional issues Craniofacial features, skeletal and hearing system impairment Dermatological symptoms Congenital defects Retinoic acid-induced 1: from gene to protein The Retinoic acid-induced 1 gene Rai1 expression and subcellular localization Correlation between structure and function Rai1 function Model systems of Smith–Magenis syndrome Animal models of Smith–Magenis syndrome Cellular models: Smith–Magenis syndrome patient-derived primary cell lines Induced pluripotent stem cells for modeling Smith–Magenis syndrome Organoids and neurospheres Concluding remarks References 10 - Induced pluripotent stem cells for modeling of cardiac arrhythmias Introduction The use of human induced pluripotent stem cells–derived cardiomyocytes to investigate inherited arrhythmias Long QT syndrome Short QT syndrome Brugada syndrome Catecholaminergic polymorphic ventricular tachycardia Atrial fibrillation Application of human induced pluripotent stem cells–derived cardiomyocytes to investigate acquired arrhythmias Infection-induced arrhythmia Hormone-induced arrhythmia Drug-induced arrhythmia Limitations Conclusion and perspective Funding References 11 - Modeling heritable kidney disease using human kidney iPSC-derived organoids Introduction Kidney organoids are accurate models of the developing kidney Genetic diseases of the glomerulus Kidney organoids for the study of glomerular disease Inherited diseases of the renal tubule Kidney organoids and the study of tubular disease Strengths and limitations of kidney organoids as models of inherited kidney disease compared to existing animal and two-dim ... Conclusions References Further reading Index A B C D E F G H I J K L M N O P R S T U V W X Back Cover Current Progress in iPSC Disease Modeling, Volume Fourteen in the Advances in Stem Cell Biology series, is a timely and expansive collection of information and new discoveries in the field. This new volume addresses advances in research on how induced pluripotent stem cells are used for the creation of new tissues and organs. The creation of iPSC technology allowed the development of disease-specific human pluripotent stem cells. These cells allow researchers to study questions once impossible for some human diseases. This volume addresses iPSCs for vascular tissue engineering, bioprinting, derived lung organoids for pulmonary disorders, skeletal muscle engineering, human kidney organoids, and more. It is written for researchers and scientists in stem cell therapy, cell biology, regenerative medicine and organ transplantation, and is contributed by world-renowned authors in the field. Provides an overview of the fast-moving field of stem cell biology and function, regenerative medicine and therapeutics Covers advances in research on how induced pluripotent stem cells are used to create new tissues/organs Contributed by world-renowned experts in the field