Title The molecular mechanisms of Axenfeld-Rieger syndrome / [edited by] Brad A. Amendt

Published Georgetown, Tex. : Landes Bioscience/Eurekah.com ; New York, N.Y. : Springer Science+Business Media, ©2005

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Description 1 online resource (106 pages) : illustrations Series Medical intelligence unit Medical intelligence unit (Unnumbered : 2003) Contents Identification of the gene involved in 4q25-linked Axenfeld-Rieger syndrome, PITX2 / Elena V. Semina -- Winged helix/forkhead transcription factors and Rieger syndrome / Darryl Y. Nishimura and Ruth E. Swiderski -- Rieger syndrome and PAX6 deletion / Ruth Riise -- The molecular and biochemical basis of Axenfeld-Rieger syndrome / Brad A. Amendt -- Role of PITX2 in the pituitary gland / Hoonkyo Suh [and others] -- Expression and function of PITX2 in chick heart looping / Xueyan Yu, Shusheng Wang, and YiPing Chen -- The multiple roles of PITX2 in heart development / James F. Martin -- The role of PITX2 in tooth development / Brad A. Amendt -- PITX genes and ocular development / Elena V. Semina -- An overview of Axenfeld-Rieger syndrome and the anterior segment developmental disorders / Brad A. Amendt Summary Annotation The Molecular Mechanisms of Axenfeld-Rieger Syndrome describes the current research and clinical findings of the heterogeneous disorder termed Axenfeld-Rieger Syndrome (ARS). The book provides an in-depth analysis of this phenotypic diverse disorder and is designed to detail the current molecular and biochemical research involved in studying genetic defects. This book brings together the complete analysis of a human genetic defect using humans, mouse and chick epigenetic and genetic studies, combined with cell culture and in vitro analyses. It is a comprehensive study of a unique set of genes and their mutant activities. A molecular basis for the genetic and phenotypic anomalies observed in ARS patients is provided, with especially detailed descriptions of eye, tooth, and heart development Analysis celbiologie cellular biology ontogenie ontogeny geneeskunde medicine volksgezondheid public health biomedische wetenschappen biomedicine humane genetica human genetics Medicine (General) Geneeskunde (algemeen) Bibliography Includes bibliographical references and index Notes Print version record In OhioLINK electronic book center SpringerLink Subject Axenfeld-Rieger syndrome -- Molecular aspects Abnormalities, Multiple -- genetics Gene Expression Regulation, Developmental -- physiology Transcription Factors -- metabolism MEDICAL -- Ophthalmology. HEALTH & FITNESS -- Vision. Abnormalities, Multiple -- genetics. Gene Expression Regulation, Developmental -- physiology. Transcription Factors -- metabolism. Axenfeld-Rieger syndrome -- Molecular aspects. Biomédecine. Sciences de la vie. Form Electronic book Author Amendt, Brad A ISBN 1423735072 9781423735076 9781587066207 1587066203

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