The Rasopathies: Genetic Syndromes of the Ras/Mapk Pathway
Rauen, Katherine A.
- 出版商: Springer
- 出版日期: 2024-11-01
- 售價: $7,630
- 貴賓價: 9.5 折 $7,249
- 語言: 英文
- 頁數: 1067
- 裝訂: Hardcover - also called cloth, retail trade, or trade
- ISBN: 3031629442
- ISBN-13: 9783031629440
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商品描述
This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation-arteriovenous malformation syndrome, SYNGAP1 syndrome and central conducting lymphatic anomalies. Noted physician and authority Katherine Rauen and an assembly of the top international experts present detailed discussions of both the science and clinical implications of these fascinating disorders. The major topics covered in this book include the syndromes and genes, the RAS pathway, phenotypic features, animal modeling and treatments. The book will appeal to a wide audience, including clinicians and basic scientists alike such as medical geneticists, genetics counsellors, oncologists, neurologists, cardiologists, dermatologists, behavioralists, orthopedists, ophthalmologists, neuroscientists, RAS biologists, and signal transductionists. This book is also intended for advocate leaders, trainees, and families with RASopathies.
商品描述(中文翻譯)
本書全面介紹了RAS病徵群，這是已知最大的可辨識畸形綜合症之一，約影響每1,000人中的1人。這些綜合症包括神經纖維瘤病型1、Noonan綜合症、具有多發性黑斑的Noonan綜合症、Costello綜合症、心臟面部剪接綜合症、Legius綜合症、毛細血管畸形-動靜脈畸形綜合症、SYNGAP1綜合症和中央導管淋巴畸形。知名醫師和權威人物Katherine Rauen以及一群頂尖國際專家詳細討論了這些引人入勝的疾病的科學和臨床意義。本書涵蓋的主要主題包括綜合症和基因、RAS途徑、表型特徵、動物模型和治療方法。本書將吸引廣泛的讀者，包括臨床醫生和基礎科學家，如醫學遺傳學家、遺傳輔導師、腫瘤學家、神經學家、心臟病學家、皮膚科醫生、行為學家、骨科醫生、眼科醫生、神經科學家、RAS生物學家和信號傳導學家。本書還適用於倡導領袖、實習生和患有RAS病徵群的家庭。
作者簡介
Dr. Katherine A. (Kate) Rauen is a physician-scientist and Professor Emeritus in the Department of Pediatrics, Division of Genomic Medicine at the University of California Davis. She received a Master of Science in Human Physiology and a PhD in Genetics from UC Davis doing research on gene dosage compensation and genetic evolution. She obtained her Medical Degree at the University of California Irvine where she also did research in cancer genetics. Dr. Rauen did her residency training in Pediatrics and fellowship training in Medical Genetics at the University of California San Francisco. Dr. Rauen is internationally known for her pioneering work in the early application of microarray technology in clinical genetics and as a leader and major contributor to the understanding of RASopathies, genetics syndromes of the RAS/MAPK pathway. Her research program involves the clinical and basic science study of cancer syndromes with effort to identify underlying genetic abnormalities affecting common developmental and cancer pathways.
作者簡介(中文翻譯)
Dr. Katherine A. (Kate) Rauen是一位醫學家和加州大學戴維斯分校兒科學系基因醫學部的名譽教授。她在加州大學戴維斯分校獲得人體生理學碩士學位和遺傳學博士學位，並在此期間進行了有關基因劑量補償和遺傳進化的研究。她在加州大學爾灣分校獲得醫學學位，並在該校進行了癌症遺傳學的研究。Rauen博士在加州大學舊金山分校接受了兒科住院醫師培訓和醫學遺傳學的研究生培訓。Rauen博士以在臨床遺傳學中早期應用微陣列技術的開創性工作以及作為RAS/MAPK途徑的遺傳綜合症（RASopathies）的理解的領導者和主要貢獻者而享譽國際。她的研究項目涉及對癌症綜合症的臨床和基礎科學研究，旨在確定影響常見發育和癌症途徑的潛在遺傳異常。