The Molecular Mechanisms of Axenfeld-Rieger Syndrome (Medical Intelligence Unit) - Softcover
We are excited to bring together recent research on the molecular biology of Axenfeld-Rieger syndrome (ARS) disorders. In the following chapters we will review and provide direct evidence for the molecular basis of this group of heterogeneous disorders, which include Rieger syndrome and Rieger anomaly. While ARS patients were initially diagnosed in the early 1930s the genetic basis for ARS was unknown until the recent identification of chromo somal loci associated with this genetic disorder. In the mid-1990s Drs. Jeffrey C. Murray and Elena V. Semina identified PITX2 through positional cloning tech niques as a gene associated with ARS. These researchers were able to iden tify point mutations in PITX2 that were linked with ARS patients. ARS patients presented clinically with several developmental anomalies that fur ther provided clues about the function of the PITX2 homeobox tran scription factor. The phenotypic variability of ARS patients indicates that PITX2 can participate with many other faaors to control normal development processes. The hallmarks of ARS developmental anomalies are eye, tooth and umbilical defects. However, abnormal pituitary, heart, and craniofacial development are also detected. Thus, ARS patients provided the first link of PITX2 involvement in the development of these organs and structures. Some of these anomalies are recapitulated in epigenetic and genetic mouse, chick, zebrafish and frog studies which will be reviewed in the following chapters.
"synopsis" may belong to another edition of this title.
- PublisherSpringer
- Publication date2014
- ISBN 10 1489996648
- ISBN 13 9781489996640
- BindingPaperback
- Number of pages118
- EditorAmendt Brad A.
Buy New
Learn more about this copy
US$ 106.17
Shipping:
FREE
Within U.S.A.
Top Search Results from the AbeBooks Marketplace
Seller Image
The Molecular Mechanisms of Axenfeld-Rieger Syndrome (Medical Intelligence Unit) [Paperback ]
Seller:
Rating
Book Description Soft Cover. Condition: new. Seller Inventory # 9781489996640
Buy New
US$ 106.17
Convert currency
Stock Image
The Molecular Mechanisms of Axenfeld-Rieger Syndrome (Medical Intelligence Unit)
Published by
Springer
(2014)
ISBN 10: 1489996648
ISBN 13: 9781489996640
New
Softcover
Quantity: > 20
Seller:
Rating
Book Description Condition: New. Seller Inventory # ABLIING23Mar2716030159851
Buy New
US$ 115.80
Convert currency
Stock Image
The Molecular Mechanisms of Axenfeld-Rieger Syndrome
Published by
Springer
(2014)
ISBN 10: 1489996648
ISBN 13: 9781489996640
New
Softcover
Quantity: > 20
Seller:
Rating
Book Description Condition: New. PRINT ON DEMAND Book; New; Fast Shipping from the UK. No. book. Seller Inventory # ria9781489996640_lsuk
Buy New
US$ 121.60
Convert currency
Seller Image
The Molecular Mechanisms of Axenfeld-Rieger Syndrome
Published by
Springer US Dez 2014
(2014)
ISBN 10: 1489996648
ISBN 13: 9781489996640
New
Taschenbuch
Quantity: 2
Seller:
Rating
Book Description Taschenbuch. Condition: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -We are excited to bring together recent research on the molecular biology of Axenfeld-Rieger syndrome (ARS) disorders. In the following chapters we will review and provide direct evidence for the molecular basis of this group of heterogeneous disorders, which include Rieger syndrome and Rieger anomaly. While ARS patients were initially diagnosed in the early 1930s the genetic basis for ARS was unknown until the recent identification of chromo somal loci associated with this genetic disorder. In the mid-1990s Drs. Jeffrey C. Murray and Elena V. Semina identified PITX2 through positional cloning tech niques as a gene associated with ARS. These researchers were able to iden tify point mutations in PITX2 that were linked with ARS patients. ARS patients presented clinically with several developmental anomalies that fur ther provided clues about the function of the PITX2 homeobox tran scription factor. The phenotypic variability of ARS patients indicates that PITX2 can participate with many other faaors to control normal development processes. The hallmarks of ARS developmental anomalies are eye, tooth and umbilical defects. However, abnormal pituitary, heart, and craniofacial development are also detected. Thus, ARS patients provided the first link of PITX2 involvement in the development of these organs and structures. Some of these anomalies are recapitulated in epigenetic and genetic mouse, chick, zebrafish and frog studies which will be reviewed in the following chapters. 120 pp. Englisch. Seller Inventory # 9781489996640
Buy New
US$ 117.93
Convert currency
Seller Image
The Molecular Mechanisms of Axenfeld-Rieger Syndrome
Published by
Springer US
(2014)
ISBN 10: 1489996648
ISBN 13: 9781489996640
New
Softcover
Quantity: > 20
Seller:
Rating
Book Description Condition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. Presents detailed information and clinical descriptions and diagnosis of ARS, phenotypical descriptions of patients with ARS, Molecular aspects of ARS and gene structure/function studiesDescribes state-of-the-art scientific methods used to assay g. Seller Inventory # 11775850
Buy New
US$ 101.71
Convert currency
Seller Image
The Molecular Mechanisms of Axenfeld-Rieger Syndrome
Published by
Springer US
(2014)
ISBN 10: 1489996648
ISBN 13: 9781489996640
New
Taschenbuch
Quantity: 1
Seller:
Rating
Book Description Taschenbuch. Condition: Neu. Druck auf Anfrage Neuware - Printed after ordering - We are excited to bring together recent research on the molecular biology of Axenfeld-Rieger syndrome (ARS) disorders. In the following chapters we will review and provide direct evidence for the molecular basis of this group of heterogeneous disorders, which include Rieger syndrome and Rieger anomaly. While ARS patients were initially diagnosed in the early 1930s the genetic basis for ARS was unknown until the recent identification of chromo somal loci associated with this genetic disorder. In the mid-1990s Drs. Jeffrey C. Murray and Elena V. Semina identified PITX2 through positional cloning tech niques as a gene associated with ARS. These researchers were able to iden tify point mutations in PITX2 that were linked with ARS patients. ARS patients presented clinically with several developmental anomalies that fur ther provided clues about the function of the PITX2 homeobox tran scription factor. The phenotypic variability of ARS patients indicates that PITX2 can participate with many other faaors to control normal development processes. The hallmarks of ARS developmental anomalies are eye, tooth and umbilical defects. However, abnormal pituitary, heart, and craniofacial development are also detected. Thus, ARS patients provided the first link of PITX2 involvement in the development of these organs and structures. Some of these anomalies are recapitulated in epigenetic and genetic mouse, chick, zebrafish and frog studies which will be reviewed in the following chapters. Seller Inventory # 9781489996640
Buy New
US$ 120.61
Convert currency
Stock Image
The Molecular Mechanisms of Axenfeld-Rieger Syndrome
Published by
Springer-Verlag New York Inc.
(2014)
ISBN 10: 1489996648
ISBN 13: 9781489996640
New
Paperback / softback
Quantity: > 20
Seller:
Rating
Book Description Paperback / softback. Condition: New. This item is printed on demand. New copy - Usually dispatched within 5-9 working days. Seller Inventory # C9781489996640
Buy New
US$ 148.73
Convert currency