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Título : Advances in Vision Research, Volume I : Genetic Eye Research in Asia and the Pacific Tipo de documento: documento electrónico Autores: Prakash, Gyan, ; Iwata, Takeshi, Mención de edición: 1 ed. Editorial: Tokyo [Japón] : Springer Fecha de publicación: 2017 Número de páginas: XV, 523 p. 71 ilustraciones, 55 ilustraciones en color. ISBN/ISSN/DL: 978-4-431-56511-6 Nota general: Libro disponible en la plataforma SpringerLink. Descarga y lectura en formatos PDF, HTML y ePub. Descarga completa o por capítulos. Idioma : Inglés (eng) Palabras clave: Oftalmología Genética Médica Clasificación: 617.7 Oftalmología Resumen: Este libro presenta el estado del arte en la investigación genética ocular en Asia y el Pacífico. Aunque ha habido una explosión de información sobre la investigación genética ocular en los países occidentales, más del sesenta por ciento de los genes humanos involucrados en enfermedades oculares en la población asiática y del Pacífico siguen siendo desconocidos. Sin embargo, nuevos esfuerzos y una nueva conciencia han provocado importantes debates sobre el tema, y se están implementando nuevos planes para descubrir los genes responsables de muchas enfermedades oculares en la población. El libro revisa los últimos hallazgos; su contenido abarca desde los aspectos genéticos de la migración humana hasta el análisis de secuencias de ADN, el análisis de asociación de todo el genoma y los fenotipos de enfermedades. También se analizan los esfuerzos del Consorcio Asiático de Genética Ocular (AEGC). Los editores del libro han sido fundamentales en el desarrollo de estrategias para descubrir los nuevos genes asiáticos involucrados en muchas enfermedades oculares. Todos los capítulos fueron escritos por investigadores líderes que trabajan en genética ocular asiática en los campos de la genética humana, la oftalmología, la biología molecular, la bioquímica, las ciencias sensoriales y la investigación clínica. Avances en la investigación de la visión, volumen I, demostrará ser un recurso importante para todos los investigadores, médicos, investigadores clínicos y profesionales de la salud ocular afines con interés en las enfermedades oculares entre la población asiática. Nota de contenido: 1. Foundation of Asian Eye Genetics Consortium (AEGC) (Gyan Prakash, Takeshi Iwata) -- 2. Japan consortium for whole exome analysis of hereditary retinal diseases (Takeshi Iwata) -- 3. Whole-genome sequencing in genetic eye diseases in China (Zi-bing Jin) -- 4. Targeted exome sequencing in Japanese patients with Retinitis Pigmentosa (Maho Oishi, Akio Oishi, Nagahisa Yoshimura) -- 5. Genetic Epidemiology of Congenital Cataracts and Autosomal Recessive Retinal Degenerations in Pakistan (Fielding Hejtmancik, Qiwei Wang, Yabin Chen, Sheikh Riazuddin and S. Amer Riazuddin) -- 6. Genetics of Cataract in Asia (Chitra Kannabiran and Vanita) -- 7. Genetic analysis of families with retinal dystrophies (Qingjiong Zhang) -- 8. Whole genome sequencing in patients with Retinitis Pigmentosa (Koji M. Nishiguchi) -- 9. Retinitis pigmentosa in Korean patients (C.K. Yoon, U.C. Park and H.G. Yu) -- 10. Retinitis pigmentosa in Chinese population (Ruifang Sui and Xuan Zou) -- 11. Retinitis Pigmentosa in Japanese Population (Katsuhiro Hosono, Shinsei Minoshima, Yoshihiro Hotta) -- 12. Cone Dysfunction Syndrome in Japanese Population (Takaaki Hayashi) -- 13. Leber Congenital Amaurosis/Early-Onset Retinal Dystrophy in Japanese Population (Kazuki Kuniyoshi and Yoshikazu Shimomura) -- 14. Paradigm of Susceptibility genes in AMD and PCV (Paul N. Baird and Moeen Riaz) -- 15. Genetics and Pathology of Inflammatory Components on AMD (Xiaoxin Li, Lv-Zhen Huang, Peng Zhou and Chi Chao Chan) -- 16. Genome wide association study of age-related eye diseases in Chinese population (Guy L.J. Chen, Shi Song Rong and Calvin C.P. Pang) -- 17. Clinical Genetics of Retinoblastoma: An Asian Perspective (Ashwin Mallipatna and Meghan Marino and Arun Singh) -- 18. Molecular and Clinical Genetics of Retinoblastoma (Jason C.S. Yam, Winnie W. Y. Lau, Wai Kit Chu, L.J. Chen, K. W. Choy, Simon T.C. and Calvin C.P. Pang) -- 19. Current research Perspectives in Understanding Diabetic Retinopathy (A Jayamuruga Pandian, Nagasamy Soumittra, Rajiv Raman, Sarangapani Sripriya) -- 20. Genome-wide association studies of glaucoma (Zachary Dong, Chiea Chuen Khor and Janey L. Wiggs) -- 21. Genetic Complexity of Primary Angle Closure Glaucoma in Asians (Roopam Duvesh, R Venkatesh, S Kavitha, Pradeep Ramulu, SR Krishnadas and P Sundaresan) -- 22. Genotype-phenotype correlation for POAG in the Middle East Khaled Abu-Amero (Saudi Arabia), Alta (A. Kondkar and Ahmed Mousa) -- 23. Corneal Dystrophies in India (Namrata Sharma and Arundhati Sharma) -- 24. Genetics of Corneal Endothelial Dystrophies: An Asian Perspective (Sudha Neelam, Jod Mehta, Eranga Vithana and Vinod Mootha) -- 25. Keratoconus in Asia (Rajiv Mohan, Arkasubhra Ghosh and Rohit Shetty) -- 26. Genetics of Pediatric Eye Diseases and Strabismus in Asia (Zia Chaudhuri and Birgit Lorenz) -- 27. Keratoconus: Globally and in the Middle East; Epidemiology, Genetics and future Research (Ahmed Mousa, Altaf Kondkar and Khaled Abu-Amero) -- 28. Genetics of Myopia (Sushil Kumari Sangwan,Arundhati Sharma, Namrata Sharma, Radhika Tandon) -- 29. Ocular Implications of Gaucher Disease (Mones S. Abu-Asab, Ian Y. L. Yeung, Christopher Ardeljan, Ashley N. Gonzalez, Ellen Sidransky, Chi-Chao Chan) -- 30. Genetic background of Uveitis in Chinese population (Peiziang Yang, Hongsong Yu, Bo Lei and Aize Kijlstra) -- 31. Usher Syndrome in Chinese and Japanese Population (Shi-Ying Li, Linghui Qu, and Xiaohong Meng, and Zheng Qin Yin) -- 32. Homozygosity Mapping for Autosomal Recessive Ocular Diseases (Chandrasekar SatyaPriya, Sundaramoorthy Srilekha, Karthikeyan Sudha, Sarangapani Sripriya, Nagasamy Soumittra) -- 33. Tools of Genetic Eye Research and Need for Clinical Research Collaborations (Vanita Vanita and Umang Mathur) -- 34. Eye Genetics: The Road Ahead to Quality Standards (Sridhar Bammidi, Kaushal Sharma, Rahul Tyagi, Neel Kamal Sharma and Akshay Anand) -- 35. Genetic Counselling in Asia (Viney Gupta and Ken K. Nischal) -- 36. Epigenetic study in Asian Eye Diseases (Lai Wei, XiaoHu and Xiafeng Wen) -- 37. Unique Asian Patients Population: An Opportunity for Drug Development (Rajkumar Patil, Cheng Ching Yu, Chui Ming Gemmy Cheung and Tien Yin Wong -- 38. A Perspective: How can gene therapeutics help address ophthalmic health issues in Asia? (Paul Kaufman). Tipo de medio : Computadora Summary : This book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book's editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population. Enlace de acceso : https://link-springer-com.biblioproxy.umanizales.edu.co/referencework/10.1007/97 [...] Advances in Vision Research, Volume I : Genetic Eye Research in Asia and the Pacific [documento electrónico] / Prakash, Gyan, ; Iwata, Takeshi, . - 1 ed. . - Tokyo [Japón] : Springer, 2017 . - XV, 523 p. 71 ilustraciones, 55 ilustraciones en color.
ISBN : 978-4-431-56511-6
Libro disponible en la plataforma SpringerLink. Descarga y lectura en formatos PDF, HTML y ePub. Descarga completa o por capítulos.
Idioma : Inglés (eng)
Palabras clave: Oftalmología Genética Médica Clasificación: 617.7 Oftalmología Resumen: Este libro presenta el estado del arte en la investigación genética ocular en Asia y el Pacífico. Aunque ha habido una explosión de información sobre la investigación genética ocular en los países occidentales, más del sesenta por ciento de los genes humanos involucrados en enfermedades oculares en la población asiática y del Pacífico siguen siendo desconocidos. Sin embargo, nuevos esfuerzos y una nueva conciencia han provocado importantes debates sobre el tema, y se están implementando nuevos planes para descubrir los genes responsables de muchas enfermedades oculares en la población. El libro revisa los últimos hallazgos; su contenido abarca desde los aspectos genéticos de la migración humana hasta el análisis de secuencias de ADN, el análisis de asociación de todo el genoma y los fenotipos de enfermedades. También se analizan los esfuerzos del Consorcio Asiático de Genética Ocular (AEGC). Los editores del libro han sido fundamentales en el desarrollo de estrategias para descubrir los nuevos genes asiáticos involucrados en muchas enfermedades oculares. Todos los capítulos fueron escritos por investigadores líderes que trabajan en genética ocular asiática en los campos de la genética humana, la oftalmología, la biología molecular, la bioquímica, las ciencias sensoriales y la investigación clínica. Avances en la investigación de la visión, volumen I, demostrará ser un recurso importante para todos los investigadores, médicos, investigadores clínicos y profesionales de la salud ocular afines con interés en las enfermedades oculares entre la población asiática. Nota de contenido: 1. Foundation of Asian Eye Genetics Consortium (AEGC) (Gyan Prakash, Takeshi Iwata) -- 2. Japan consortium for whole exome analysis of hereditary retinal diseases (Takeshi Iwata) -- 3. Whole-genome sequencing in genetic eye diseases in China (Zi-bing Jin) -- 4. Targeted exome sequencing in Japanese patients with Retinitis Pigmentosa (Maho Oishi, Akio Oishi, Nagahisa Yoshimura) -- 5. Genetic Epidemiology of Congenital Cataracts and Autosomal Recessive Retinal Degenerations in Pakistan (Fielding Hejtmancik, Qiwei Wang, Yabin Chen, Sheikh Riazuddin and S. Amer Riazuddin) -- 6. Genetics of Cataract in Asia (Chitra Kannabiran and Vanita) -- 7. Genetic analysis of families with retinal dystrophies (Qingjiong Zhang) -- 8. Whole genome sequencing in patients with Retinitis Pigmentosa (Koji M. Nishiguchi) -- 9. Retinitis pigmentosa in Korean patients (C.K. Yoon, U.C. Park and H.G. Yu) -- 10. Retinitis pigmentosa in Chinese population (Ruifang Sui and Xuan Zou) -- 11. Retinitis Pigmentosa in Japanese Population (Katsuhiro Hosono, Shinsei Minoshima, Yoshihiro Hotta) -- 12. Cone Dysfunction Syndrome in Japanese Population (Takaaki Hayashi) -- 13. Leber Congenital Amaurosis/Early-Onset Retinal Dystrophy in Japanese Population (Kazuki Kuniyoshi and Yoshikazu Shimomura) -- 14. Paradigm of Susceptibility genes in AMD and PCV (Paul N. Baird and Moeen Riaz) -- 15. Genetics and Pathology of Inflammatory Components on AMD (Xiaoxin Li, Lv-Zhen Huang, Peng Zhou and Chi Chao Chan) -- 16. Genome wide association study of age-related eye diseases in Chinese population (Guy L.J. Chen, Shi Song Rong and Calvin C.P. Pang) -- 17. Clinical Genetics of Retinoblastoma: An Asian Perspective (Ashwin Mallipatna and Meghan Marino and Arun Singh) -- 18. Molecular and Clinical Genetics of Retinoblastoma (Jason C.S. Yam, Winnie W. Y. Lau, Wai Kit Chu, L.J. Chen, K. W. Choy, Simon T.C. and Calvin C.P. Pang) -- 19. Current research Perspectives in Understanding Diabetic Retinopathy (A Jayamuruga Pandian, Nagasamy Soumittra, Rajiv Raman, Sarangapani Sripriya) -- 20. Genome-wide association studies of glaucoma (Zachary Dong, Chiea Chuen Khor and Janey L. Wiggs) -- 21. Genetic Complexity of Primary Angle Closure Glaucoma in Asians (Roopam Duvesh, R Venkatesh, S Kavitha, Pradeep Ramulu, SR Krishnadas and P Sundaresan) -- 22. Genotype-phenotype correlation for POAG in the Middle East Khaled Abu-Amero (Saudi Arabia), Alta (A. Kondkar and Ahmed Mousa) -- 23. Corneal Dystrophies in India (Namrata Sharma and Arundhati Sharma) -- 24. Genetics of Corneal Endothelial Dystrophies: An Asian Perspective (Sudha Neelam, Jod Mehta, Eranga Vithana and Vinod Mootha) -- 25. Keratoconus in Asia (Rajiv Mohan, Arkasubhra Ghosh and Rohit Shetty) -- 26. Genetics of Pediatric Eye Diseases and Strabismus in Asia (Zia Chaudhuri and Birgit Lorenz) -- 27. Keratoconus: Globally and in the Middle East; Epidemiology, Genetics and future Research (Ahmed Mousa, Altaf Kondkar and Khaled Abu-Amero) -- 28. Genetics of Myopia (Sushil Kumari Sangwan,Arundhati Sharma, Namrata Sharma, Radhika Tandon) -- 29. Ocular Implications of Gaucher Disease (Mones S. Abu-Asab, Ian Y. L. Yeung, Christopher Ardeljan, Ashley N. Gonzalez, Ellen Sidransky, Chi-Chao Chan) -- 30. Genetic background of Uveitis in Chinese population (Peiziang Yang, Hongsong Yu, Bo Lei and Aize Kijlstra) -- 31. Usher Syndrome in Chinese and Japanese Population (Shi-Ying Li, Linghui Qu, and Xiaohong Meng, and Zheng Qin Yin) -- 32. Homozygosity Mapping for Autosomal Recessive Ocular Diseases (Chandrasekar SatyaPriya, Sundaramoorthy Srilekha, Karthikeyan Sudha, Sarangapani Sripriya, Nagasamy Soumittra) -- 33. Tools of Genetic Eye Research and Need for Clinical Research Collaborations (Vanita Vanita and Umang Mathur) -- 34. Eye Genetics: The Road Ahead to Quality Standards (Sridhar Bammidi, Kaushal Sharma, Rahul Tyagi, Neel Kamal Sharma and Akshay Anand) -- 35. Genetic Counselling in Asia (Viney Gupta and Ken K. Nischal) -- 36. Epigenetic study in Asian Eye Diseases (Lai Wei, XiaoHu and Xiafeng Wen) -- 37. Unique Asian Patients Population: An Opportunity for Drug Development (Rajkumar Patil, Cheng Ching Yu, Chui Ming Gemmy Cheung and Tien Yin Wong -- 38. A Perspective: How can gene therapeutics help address ophthalmic health issues in Asia? (Paul Kaufman). Tipo de medio : Computadora Summary : This book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book's editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population. Enlace de acceso : https://link-springer-com.biblioproxy.umanizales.edu.co/referencework/10.1007/97 [...]
Título : Advances in Vision Research, Volume II : Genetic Eye Research in Asia and the Pacific Tipo de documento: documento electrónico Autores: Prakash, Gyan, ; Iwata, Takeshi, Mención de edición: 1 ed. Editorial: Singapore [Malasya] : Springer Fecha de publicación: 2019 Número de páginas: XVIII, 468 p. 71 ilustraciones, 51 ilustraciones en color. ISBN/ISSN/DL: 978-981-1308840-- Nota general: Libro disponible en la plataforma SpringerLink. Descarga y lectura en formatos PDF, HTML y ePub. Descarga completa o por capítulos. Idioma : Inglés (eng) Palabras clave: Oftalmología Genética Médica Clasificación: 617.7 Oftalmología Resumen: Este segundo volumen continúa centrándose en los últimos avances en la investigación genética del ojo en Asia y el Pacífico. Aunque ha habido una explosión de información sobre la investigación genética de los ojos en los países occidentales, más del sesenta por ciento de los genes humanos implicados en las enfermedades oculares en la población de Asia y el Pacífico siguen siendo desconocidos. Sin embargo, nuevos esfuerzos y una nueva conciencia han suscitado importantes debates sobre el tema y se están implementando nuevos planes para descubrir los genes responsables de muchas enfermedades oculares en la población. El libro revisa los últimos hallazgos; su contenido abarca desde aspectos genéticos de la migración humana hasta análisis de secuencias de ADN, análisis de asociaciones de todo el genoma y fenotipos de enfermedades. También se analizan los esfuerzos del Consorcio Asiático de Genética del Ojo (AEGC). Los editores del libro han desempeñado un papel decisivo en el desarrollo de estrategias para descubrir los nuevos genes asiáticos implicados en muchas enfermedades oculares. Todos los capítulos fueron escritos por investigadores destacados que trabajan en la genética ocular asiática en los campos de la genética humana, la oftalmología, la biología molecular, la bioquímica, las ciencias sensoriales y la investigación clínica. Advances in Vision Research, Volumen II demostrará ser un recurso importante para todos los investigadores, médicos, investigadores clínicos y profesionales de la salud ocular interesados en las enfermedades oculares entre la población asiática. Nota de contenido: Foreword -- Chapter 1: Update on Asian Eye Genetics Consortium (AEGC) -- Chapter 2: A Bibliometric Analysis of AEGC Publications -- Chapter 3: Opportunity for population based eye research in Asia and the Middle East: An NGO perspective -- Chapter 4 eyeGENE®: A model for advancing research of rare, inherited eye conditions through biobanking and data sharing -- Chapter 5: Inherited Ocular Disease in the New Zealand Māori; Novel genetic mechanisms and founder effects -- Chapter 6: Genetics of ocular diseases in Malaysia -- Chapter 7: Challenges and Opportunities in Genetic Research from the Perspective of a Tertiary Eye Care Hospital in Bangladesh -- Chapter 8: Genetic Research on Ocular Health and Disease in a Population from Nepal -- Chapter 9: The beginnings of genetic eye research in the Philippines: Case studies and a research center development framework -- Chapter 10: Hereditary Eye Disease in Ningxia Hui Autonomous Region of China -- Chapter 11: Ophthalmic Genetics in India; From Tentative Beginnings in the 1980s to Major Achievements in the 21st century -- Chapter 12: Panel-Based Next-Generation Sequencing for Inherited Retinal Degenerations in Koreans -- Chapter 13: Genetic Disease in Ophthalmology: Health Care and Research Opportunity in Bangladesh -- Chapter 14: Update on Japan Eye Genetics Consortium -- Chapter 15: Genetics and susceptibility of retinal eye diseases in India -- Chapter 16: Unique Patient Populations in Asia for Genetic Eye Research -- Chapter 17: Retina Genes in Chinese -- Chapter 18: Leber Congenital Amaurosis in Asia -- Chapter 19: The genetics of inherited retinal diseases in the Israeli and Palestinian populations: a lesson from populations with high consanguinity levels -- Chapter 20: Occult Macular Dystrophy -- Chapter 21: Adeno-Associated Virus (AAV) Mediated Gene Therapy for Leber Hereditary Optic Neuropathy -- Chapter 22: Stargardt disease in Asian population -- Chapter 23 Retinoblastoma Genes in Chinese Studies -- Chapter 24: Genetics of Retinoblastoma: Basic Research and Clinical Applications -- Chapter 25: Genotype-Phenotype correlation in retinal degenerations -- Chapter 26: Cyp1B1 gene in Primary Congenital Glaucoma" and "Genetic Analysis of LCA in Indonesian patients -- Chapter 27: "Diabetic Retinopathy: Clinical, Genetic and Health Economics-An Asian Perspective" -- Chapter 28: Quantitative Trait for Glaucoma -- Chapter 29: Genetics of Exfoliation Syndrome in Asians -- Chapter 30: Proteomics of Neurodegenerative Disorders of the Eye -- Chapter 31: Genomic Approaches to Eye Diseases: An Asian Perspective -- Chapter 32: Myopia genes in Asians -- Chapter 33: Keratoconus Genes in Chinese -- Chapter 34 Granular corneal dystrophy type 2: Prevalence in Korea, Molecular Cell Biology and trials for the treatment -- Chapter 35: Glaucoma Genes in East Asian Studies -- Chapter 36: Clinical Genetics of Vitelliform Macular Dystrophy: An Asian Perspective. Tipo de medio : Computadora Summary : This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book's editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population. Enlace de acceso : https://link-springer-com.biblioproxy.umanizales.edu.co/referencework/10.1007/97 [...] Advances in Vision Research, Volume II : Genetic Eye Research in Asia and the Pacific [documento electrónico] / Prakash, Gyan, ; Iwata, Takeshi, . - 1 ed. . - Singapore [Malasya] : Springer, 2019 . - XVIII, 468 p. 71 ilustraciones, 51 ilustraciones en color.
ISBN : 978-981-1308840--
Libro disponible en la plataforma SpringerLink. Descarga y lectura en formatos PDF, HTML y ePub. Descarga completa o por capítulos.
Idioma : Inglés (eng)
Palabras clave: Oftalmología Genética Médica Clasificación: 617.7 Oftalmología Resumen: Este segundo volumen continúa centrándose en los últimos avances en la investigación genética del ojo en Asia y el Pacífico. Aunque ha habido una explosión de información sobre la investigación genética de los ojos en los países occidentales, más del sesenta por ciento de los genes humanos implicados en las enfermedades oculares en la población de Asia y el Pacífico siguen siendo desconocidos. Sin embargo, nuevos esfuerzos y una nueva conciencia han suscitado importantes debates sobre el tema y se están implementando nuevos planes para descubrir los genes responsables de muchas enfermedades oculares en la población. El libro revisa los últimos hallazgos; su contenido abarca desde aspectos genéticos de la migración humana hasta análisis de secuencias de ADN, análisis de asociaciones de todo el genoma y fenotipos de enfermedades. También se analizan los esfuerzos del Consorcio Asiático de Genética del Ojo (AEGC). Los editores del libro han desempeñado un papel decisivo en el desarrollo de estrategias para descubrir los nuevos genes asiáticos implicados en muchas enfermedades oculares. Todos los capítulos fueron escritos por investigadores destacados que trabajan en la genética ocular asiática en los campos de la genética humana, la oftalmología, la biología molecular, la bioquímica, las ciencias sensoriales y la investigación clínica. Advances in Vision Research, Volumen II demostrará ser un recurso importante para todos los investigadores, médicos, investigadores clínicos y profesionales de la salud ocular interesados en las enfermedades oculares entre la población asiática. Nota de contenido: Foreword -- Chapter 1: Update on Asian Eye Genetics Consortium (AEGC) -- Chapter 2: A Bibliometric Analysis of AEGC Publications -- Chapter 3: Opportunity for population based eye research in Asia and the Middle East: An NGO perspective -- Chapter 4 eyeGENE®: A model for advancing research of rare, inherited eye conditions through biobanking and data sharing -- Chapter 5: Inherited Ocular Disease in the New Zealand Māori; Novel genetic mechanisms and founder effects -- Chapter 6: Genetics of ocular diseases in Malaysia -- Chapter 7: Challenges and Opportunities in Genetic Research from the Perspective of a Tertiary Eye Care Hospital in Bangladesh -- Chapter 8: Genetic Research on Ocular Health and Disease in a Population from Nepal -- Chapter 9: The beginnings of genetic eye research in the Philippines: Case studies and a research center development framework -- Chapter 10: Hereditary Eye Disease in Ningxia Hui Autonomous Region of China -- Chapter 11: Ophthalmic Genetics in India; From Tentative Beginnings in the 1980s to Major Achievements in the 21st century -- Chapter 12: Panel-Based Next-Generation Sequencing for Inherited Retinal Degenerations in Koreans -- Chapter 13: Genetic Disease in Ophthalmology: Health Care and Research Opportunity in Bangladesh -- Chapter 14: Update on Japan Eye Genetics Consortium -- Chapter 15: Genetics and susceptibility of retinal eye diseases in India -- Chapter 16: Unique Patient Populations in Asia for Genetic Eye Research -- Chapter 17: Retina Genes in Chinese -- Chapter 18: Leber Congenital Amaurosis in Asia -- Chapter 19: The genetics of inherited retinal diseases in the Israeli and Palestinian populations: a lesson from populations with high consanguinity levels -- Chapter 20: Occult Macular Dystrophy -- Chapter 21: Adeno-Associated Virus (AAV) Mediated Gene Therapy for Leber Hereditary Optic Neuropathy -- Chapter 22: Stargardt disease in Asian population -- Chapter 23 Retinoblastoma Genes in Chinese Studies -- Chapter 24: Genetics of Retinoblastoma: Basic Research and Clinical Applications -- Chapter 25: Genotype-Phenotype correlation in retinal degenerations -- Chapter 26: Cyp1B1 gene in Primary Congenital Glaucoma" and "Genetic Analysis of LCA in Indonesian patients -- Chapter 27: "Diabetic Retinopathy: Clinical, Genetic and Health Economics-An Asian Perspective" -- Chapter 28: Quantitative Trait for Glaucoma -- Chapter 29: Genetics of Exfoliation Syndrome in Asians -- Chapter 30: Proteomics of Neurodegenerative Disorders of the Eye -- Chapter 31: Genomic Approaches to Eye Diseases: An Asian Perspective -- Chapter 32: Myopia genes in Asians -- Chapter 33: Keratoconus Genes in Chinese -- Chapter 34 Granular corneal dystrophy type 2: Prevalence in Korea, Molecular Cell Biology and trials for the treatment -- Chapter 35: Glaucoma Genes in East Asian Studies -- Chapter 36: Clinical Genetics of Vitelliform Macular Dystrophy: An Asian Perspective. Tipo de medio : Computadora Summary : This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book's editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population. Enlace de acceso : https://link-springer-com.biblioproxy.umanizales.edu.co/referencework/10.1007/97 [...]
Título : Advances in Vision Research, Volume III : Genetic Eye Research around the Globe Tipo de documento: documento electrónico Autores: Prakash, Gyan, ; Iwata, Takeshi, Mención de edición: 1 ed. Editorial: Singapore [Malasya] : Springer Fecha de publicación: 2021 Número de páginas: XVII, 478 p. 48 ilustraciones, 47 ilustraciones en color. ISBN/ISSN/DL: 978-981-1591846-- Nota general: Libro disponible en la plataforma SpringerLink. Descarga y lectura en formatos PDF, HTML y ePub. Descarga completa o por capítulos. Idioma : Inglés (eng) Palabras clave: Oftalmología Genética Médica Clasificación: 617.7 Oftalmología Resumen: Este tercer volumen, con tres editores de apoyo, amplía su enfoque en la investigación genética del ojo desde la escala asiática hasta la global. Nuevos esfuerzos y una nueva conciencia han provocado importantes debates sobre la investigación genética ocular y se están implementando nuevos planes para identificar los genes responsables de numerosas enfermedades oculares. El libro presenta los últimos hallazgos sobre genética en enfermedades oculares, terapia génica y análisis de asociación de todo el genoma, y los esfuerzos del Global Eye Genetic Consortium (GEGC). Los editores del libro han desempeñado un papel decisivo en el desarrollo de estrategias para descubrir nuevos genes implicados en muchas enfermedades oculares. Todos los capítulos fueron escritos por investigadores destacados que trabajan en genética ocular en los campos de la genética humana, la oftalmología, la biología molecular, la bioquímica, las ciencias sensoriales y la investigación clínica. Avances en la investigación de la visión, Volumen III es un recurso importante para todos los investigadores, médicos, investigadores clínicos y profesionales de la salud ocular interesados en las enfermedades oculares en todo el mundo. Nota de contenido: 1. Expansion of Asian Eye Genetics Consortium (AEGC) to Global Eye Genetics Consortium (GEGC), Introduction of a global Phenotype-Genotype Database "GenEye" and Launch of New Training Programs at National Eye Institute (NEI) -- 2. Global Women's Eye Health: a Genetic Epidemiologic perspective -- 3. Establishing the Chinese Arm of GEGC -- 4. Human material for research: Eye banking, biobanking and ethical access -- 5. Current Understanding of Polypoidal Choroidal Vasculopathy -- 6. Genetics of Age-related macular degeneration (AMD) in Asia -- 7. The contribution of rare allele and Junk Genome in AMD pathogenesis -- 8. Differential genotypes in age-related macular degeneration and polypoidal choroidal vasculopathy: a updated meta-analysis -- 9. Genetic Epidemiology of Quantitative Traits of Primary Open Angle Glaucoma -- 10. Association studies on retina diseases in Chinese population -- 11. Congenital stationary night blindness (CSNB) – an inherited retinal disorder where clear correlations can be made -- 12. Genome analysis for inherited retinal disease: the state of the art -- 13. Generation and analysis of induced photoreceptor-like cells from fibroblasts of patients with retinitis pigmentosa -- 14. Genotype-phenotype of RPE65 mutations: A reference guide for gene testing and its clinical application -- 15. Genetic variants and impact in PDE6B rod-cone dystrophy -- 16. The retinitis pigmentosa genes -- 17. Primary Congenital Glaucoma Genetics – The Experience in Brazil -- 18. Glaucoma genetics in Pakistan -- 19. Contributions of Promoter Variants to Complex Eye Diseases -- 20. Vascular Basement Membrane Thickening – Basis of disease pathology in diabetic retinopathy -- 21. Molecular Genetics and Clinical aspects of Macular Corneal Dystrophy -- 22. Congenital and Inherited Cataracts -- 23. Higher order aberrations: differences among populations from various demographics -- 24. Genetics Of Microphthalmia: Global And Indian Perspectives -- 25. Regional Differences in Prevalence of Myopia: Genetic or Environmental Effects? -- 26. Consortium for Refractive Error and Myopia (CREAM): Vision, Mission and Accomplishments -- 27. Oncologic properties of retinoblastoma genes -- 28. Oncologic implications of genetic and epigenetic basis of pterygium -- 29. The need for alternative therapies in eye disorders -- 30. Gene Therapy and Retinal Disease -- 31. The use of human pluripotent stem cells (hPSCs) and CRISPR-mediated gene editing in retinal diseases. Tipo de medio : Computadora Summary : This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book's editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eyediseases around the globe. Enlace de acceso : https://link-springer-com.biblioproxy.umanizales.edu.co/referencework/10.1007/97 [...] Advances in Vision Research, Volume III : Genetic Eye Research around the Globe [documento electrónico] / Prakash, Gyan, ; Iwata, Takeshi, . - 1 ed. . - Singapore [Malasya] : Springer, 2021 . - XVII, 478 p. 48 ilustraciones, 47 ilustraciones en color.
ISBN : 978-981-1591846--
Libro disponible en la plataforma SpringerLink. Descarga y lectura en formatos PDF, HTML y ePub. Descarga completa o por capítulos.
Idioma : Inglés (eng)
Palabras clave: Oftalmología Genética Médica Clasificación: 617.7 Oftalmología Resumen: Este tercer volumen, con tres editores de apoyo, amplía su enfoque en la investigación genética del ojo desde la escala asiática hasta la global. Nuevos esfuerzos y una nueva conciencia han provocado importantes debates sobre la investigación genética ocular y se están implementando nuevos planes para identificar los genes responsables de numerosas enfermedades oculares. El libro presenta los últimos hallazgos sobre genética en enfermedades oculares, terapia génica y análisis de asociación de todo el genoma, y los esfuerzos del Global Eye Genetic Consortium (GEGC). Los editores del libro han desempeñado un papel decisivo en el desarrollo de estrategias para descubrir nuevos genes implicados en muchas enfermedades oculares. Todos los capítulos fueron escritos por investigadores destacados que trabajan en genética ocular en los campos de la genética humana, la oftalmología, la biología molecular, la bioquímica, las ciencias sensoriales y la investigación clínica. Avances en la investigación de la visión, Volumen III es un recurso importante para todos los investigadores, médicos, investigadores clínicos y profesionales de la salud ocular interesados en las enfermedades oculares en todo el mundo. Nota de contenido: 1. Expansion of Asian Eye Genetics Consortium (AEGC) to Global Eye Genetics Consortium (GEGC), Introduction of a global Phenotype-Genotype Database "GenEye" and Launch of New Training Programs at National Eye Institute (NEI) -- 2. Global Women's Eye Health: a Genetic Epidemiologic perspective -- 3. Establishing the Chinese Arm of GEGC -- 4. Human material for research: Eye banking, biobanking and ethical access -- 5. Current Understanding of Polypoidal Choroidal Vasculopathy -- 6. Genetics of Age-related macular degeneration (AMD) in Asia -- 7. The contribution of rare allele and Junk Genome in AMD pathogenesis -- 8. Differential genotypes in age-related macular degeneration and polypoidal choroidal vasculopathy: a updated meta-analysis -- 9. Genetic Epidemiology of Quantitative Traits of Primary Open Angle Glaucoma -- 10. Association studies on retina diseases in Chinese population -- 11. Congenital stationary night blindness (CSNB) – an inherited retinal disorder where clear correlations can be made -- 12. Genome analysis for inherited retinal disease: the state of the art -- 13. Generation and analysis of induced photoreceptor-like cells from fibroblasts of patients with retinitis pigmentosa -- 14. Genotype-phenotype of RPE65 mutations: A reference guide for gene testing and its clinical application -- 15. Genetic variants and impact in PDE6B rod-cone dystrophy -- 16. The retinitis pigmentosa genes -- 17. Primary Congenital Glaucoma Genetics – The Experience in Brazil -- 18. Glaucoma genetics in Pakistan -- 19. Contributions of Promoter Variants to Complex Eye Diseases -- 20. Vascular Basement Membrane Thickening – Basis of disease pathology in diabetic retinopathy -- 21. Molecular Genetics and Clinical aspects of Macular Corneal Dystrophy -- 22. Congenital and Inherited Cataracts -- 23. Higher order aberrations: differences among populations from various demographics -- 24. Genetics Of Microphthalmia: Global And Indian Perspectives -- 25. Regional Differences in Prevalence of Myopia: Genetic or Environmental Effects? -- 26. Consortium for Refractive Error and Myopia (CREAM): Vision, Mission and Accomplishments -- 27. Oncologic properties of retinoblastoma genes -- 28. Oncologic implications of genetic and epigenetic basis of pterygium -- 29. The need for alternative therapies in eye disorders -- 30. Gene Therapy and Retinal Disease -- 31. The use of human pluripotent stem cells (hPSCs) and CRISPR-mediated gene editing in retinal diseases. Tipo de medio : Computadora Summary : This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book's editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eyediseases around the globe. Enlace de acceso : https://link-springer-com.biblioproxy.umanizales.edu.co/referencework/10.1007/97 [...]
