The Rasopathies: Genetic Syndromes of the Ras/Mapk Pathway
暫譯: Ras病症：Ras/Mapk途徑的遺傳綜合症

Rauen, Katherine A.

The Rasopathies: Genetic Syndromes of the Ras/Mapk Pathway
  • 出版商: Springer
  • 出版日期: 2024-11-30
  • 售價: $7,820
  • 貴賓價: 9.5 折 $7,429
  • 語言: 英文
  • 頁數: 1067
  • 裝訂: Hardcover - also called cloth, retail trade, or trade
  • ISBN: 3031629442
  • ISBN-13: 9783031629440

    • 海外代購書籍(需單獨結帳)

相關主題

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病症（RASopathies），這是已知的最大可識別畸形綜合症模式之一，影響約每1,000人中就有1人。這些綜合症包括神經纖維瘤病第一型（neurofibromatosis type 1）、努南綜合症（Noonan syndrome）、伴有多發性雀斑的努南綜合症（Noonan syndrome with multiple lentigines）、科斯特羅綜合症（Costello syndrome）、心臉皮膚綜合症（cardio-facio-cutaneous syndrome）、萊吉斯綜合症（Legius syndrome）、毛細血管畸形-動靜脈畸形綜合症（capillary malformation-arteriovenous malformation syndrome）、SYNGAP1綜合症（SYNGAP1 syndrome）以及中央導管淋巴異常（central conducting lymphatic anomalies）。著名醫生及權威凱瑟琳·勞恩（Katherine Rauen）及一群頂尖國際專家詳細討論了這些迷人疾病的科學及臨床意涵。本書涵蓋的主要主題包括綜合症與基因、RAS途徑、表型特徵、動物模型及治療。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、遺傳諮詢師、腫瘤學家、神經學家、心臟病學家、皮膚科醫生、行為科學家、骨科醫生、眼科醫生、神經科學家、RAS生物學家及信號轉導專家。本書也旨在為倡導領袖、實習生及有RAS病症的家庭提供幫助。

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)

凱瑟琳·A·（凱特）拉文博士是加州大學戴維斯分校小兒科系基因組醫學部的醫生科學家及名譽教授。她在加州大學戴維斯分校獲得人類生理學碩士學位及遺傳學博士學位，研究主題為基因劑量補償和遺傳演化。她在加州大學爾灣分校獲得醫學學位，並在那裡進行癌症遺傳學的研究。拉文博士在加州大學舊金山分校完成小兒科住院醫師訓練及醫學遺傳學的研究員訓練。拉文博士因其在臨床遺傳學中微陣列技術早期應用的開創性工作而享譽國際，並且是RAS病症（RAS/MAPK途徑的遺傳綜合症）理解的領導者和主要貢獻者。她的研究計畫涉及癌症綜合症的臨床和基礎科學研究，努力識別影響常見發展和癌症途徑的潛在遺傳異常。

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