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

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		Preface	ix
	1.	Identification of the Gene Involved in 4q25-Linked 
Axenfeld-Rieger Syndrome, PITX2 	1
Elena V. Semina
Cloning of the PITX2 Gene and Identification of Mutations 
in Axenfeld-Rieger Syndrome Patients	2
	2.	Winged Helix/Forkhead Transcription Factors and Rieger Syndrome	10
Darryl Y. Nishimura and Ruth E. Swiderski
Genetic Characterization of 6p25 Glaucoma Phenotypes	10
Positional Cloning of FOXC1 	12
Winged Helix/Forkhead Gene Family	12
FOXC1 Mutations Cause Anterior Segment Anomalies	13
Functional Characterization of FOXC1	17
FOXC1 Expression	17
Other Forkhead Genes and Anterior Eye Chamber Defects	22
Future Directions	22
	3.	Rieger Syndrome and PAX6 Deletion	26
Ruth Riise
Chromosome Analysis	28
Pax6 Expression	29
	4.	The Molecular and Biochemical Basis of Axenfeld-Rieger Syndrome	32
Brad A. Amendt
Molecular/Biochemical Analysis of PITX2 Transcriptional Activities	33
Biochemical Analysis of PITX2 Mutations Associated with ARS	38
Mechanism of FOXC1 Mutations Associated with ARS	44
Discussion	45
The Role of PITX2 Phosphorylation	46
A Molecular Basis for Phenotypic Variations in ARS Patients	46
The Role of PITX2 Isoforms	46
PITX2D Inhibits the Transcriptional Activity of the Other 
PITX2 Isoforms	47
PITX2 Mutations	48
FOXC1 Mutations	49
PAX6 Mutations	49
Future Directions	49
	5.	Role of PITX2 in the Pituitary Gland	54
Hoonkyo Suh, Donna M. Martin, Michael A. Charles, 
Igor O. Nasonkin, Philip J. Gage and Sally A. Camper
Introduction to Pituitary Development and Function	54
Identification of Pitx2 	56
Allelic Series of PITX2 Mutations in Mice	57
Cell Transfections Illustrate the Role of Pitx2 in Pituitary 
Hormone Production	60
Mutations in PITX2 Are One Cause of Rieger Syndrome	60
	6.	Expression and Function of Pitx2 in Chick Heart Looping	65
Xueyan Yu, Shusheng Wang and YiPing Chen
Chick Cardiac Looping	65
Molecular Cascades Regulating Cardiac Looping	66
Expression and Regulation of Pitx2 in Early Developing 
Chick Embryo	67
Function of Pitx2 in the Regulation of Heart Looping Direction	69
	7.	The Multiple Roles of Pitx2 in Heart Development	74
James F. Martin
Pitx2 As a Final Effector in Left Right Asymmetry	74
The Role of Pitx2 Isoforms	75
Evidence From Loss of Function Studies in Mice	76
Dosage Dependence for Pitx2 in Heart Development	76
Pitx2 in a Prospective Secondary Heart Field That Contributes 
to Ventricular and Outflow Tract Myocardium	77
Pitx2 Function in Pulmonary and Systemic Vein Development	78
Future Directions	78
	8.	The Role of PITX2 in Tooth Development	81
Brad A. Amendt
Pitx2 Expression Patterns in the Developing Tooth	82
Tooth Epithelial Transcription Factors	83
Transcriptional Mechanisms of PITX2 during Tooth 
Development	85
A Molecular Basis for Differential Developmental Anomalies 
in ARS	88
	9.	PITX Genes and Ocular Development	93
Elena V. Semina
Ocular Phenotypes Associated with Mutations in PITX2 
and PITX3 Human and Mouse Genes	94
Disorders of the Anterior Segment of the Eye: A Variety 
of Conditions and Causative Genes, Possible Interactions 
with PITX Factors	97
	10.	An Overview of Axenfeld-Rieger Syndrome and the Anterior 
Segment Developmental Disorders	101
Brad A. Amendt
		Index	105

Library of Congress Subject Headings for this publication:

Axenfeld-Rieger syndrome -- Molecular aspects.
Abnormalities, Multiple -- genetics.
Gene Expression Regulation, Developmental -- physiology.
Transcription Factors -- metabolism.