The Molecular Mechanisms of Axenfeld-Rieger Syndrome / by Brad A. Amendt.

Springer eBooks

Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2 -- Winged Helix/Forkhead Transcription Factors and Rieger Syndrome -- Rieger Syndrome and PAX6 Deletion -- The Molecular and Biochemical Basis of Axenfeld-Rieger Syndrome -- Role of PITX2 in the Pituitary Gland -- Expression and Function of Pitx2 in Chick Heart Looping -- The Multiple Roles of Pitx2 in Heart Development -- The Role of PITX2 in Tooth Development -- PITX Genes and Ocular Development -- An Overview of Axenfeld-Rieger Syndrome and the Anterior Segment Developmental Disorders.

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.