Chapter title |
Modeling RASopathies with Genetically Modified Mouse Models.
|
---|---|
Chapter number | 28 |
Book title |
ERK Signaling
|
Published in |
Methods in molecular biology, January 2017
|
DOI | 10.1007/978-1-4939-6424-6_28 |
Pubmed ID | |
Book ISBNs |
978-1-4939-6422-2, 978-1-4939-6424-6
|
Authors |
Isabel Hernández-Porras, Carmen Guerra, Hernández-Porras, Isabel, Guerra, Carmen |
Editors |
Gerardo Jimenez |
Abstract |
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1. Although these syndromes present specific molecular alterations, they are characterized by a large spectrum of functional and morphological abnormalities, which include heart defects, short stature, neurocognitive impairment, craniofacial malformations, and, in some cases, cancer predisposition. The development of genetically modified animals, such as mice (Mus musculus), flies (Drosophila melanogaster), and zebrafish (Danio rerio), has been instrumental in elucidating the molecular and cellular bases of these syndromes. Moreover, these models can also be used to determine tumor predisposition, the impact of different genetic backgrounds on the variable phenotypes found among the patients and to evaluate preventative and therapeutic strategies. Here, we review a wide range of genetically modified mouse models used in the study of RASopathies and the potential application of novel technologies, which hopefully will help us resolve open questions in the field. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Australia | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 4% |
Unknown | 25 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 4 | 15% |
Other | 3 | 12% |
Professor | 3 | 12% |
Student > Master | 3 | 12% |
Student > Ph. D. Student | 2 | 8% |
Other | 3 | 12% |
Unknown | 8 | 31% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 50% |
Biochemistry, Genetics and Molecular Biology | 4 | 15% |
Agricultural and Biological Sciences | 2 | 8% |
Nursing and Health Professions | 1 | 4% |
Unknown | 6 | 23% |