Modeling RASopathies with Genetically Modified Mouse Models. (Q39031139)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27924582 AND SRC:MED&resulttype=core&format=json

29 March 2020

review article

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title

Modeling RASopathies with Genetically Modified Mouse Models (English)

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29 March 2020

2

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29 March 2020

author name string

Isabel Hernández-Porras

series ordinal

1

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29 March 2020

language of work or name

English

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publication date

1 January 2017

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Methods in Molecular Biology

29 March 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27924582 AND SRC:MED&resulttype=core&format=json

29 March 2020

volume

1487

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29 March 2020

page(s)

379-408

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Hyperactive Ras in developmental disorders and cancer

29 March 2020

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SHP2-Deficiency in Chondrocytes Deforms Orofacial Cartilage and Ciliogenesis in Mice

21 January 2018

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21 January 2018

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Induction of SHP2 deficiency in chondrocytes causes severe scoliosis and kyphosis in mice

21 January 2018

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Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling.

21 January 2018

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Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice

21 January 2018

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Deletion of Shp2 tyrosine phosphatase in muscle leads to dilated cardiomyopathy, insulin resistance, and premature death

21 January 2018

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Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways

21 January 2018

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Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations

21 January 2018

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Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.

21 January 2018

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LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

21 January 2018

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The Q510E mutation in Shp2 perturbs heart valve development by increasing cell migration

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Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome

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The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway

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New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome

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21 January 2018

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https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Germline expression of H-Ras(G12V) causes neurological deficits associated to Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Transformation by Hras(G12V) is consistently associated with mutant allele copy gains and is reversed by farnesyl transferase inhibition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Spred-1 negatively regulates allergen-induced airway eosinophilia and hyperresponsiveness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Spred1 is required for synaptic plasticity and hippocampus-dependent learning

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

RASA1: variable phenotype with capillary and arteriovenous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Generation of mice with a conditional allele of the p120 Ras GTPase-activating protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Blood vascular abnormalities in Rasa1(R780Q) knockin mice: implications for the pathogenesis of capillary malformation-arteriovenous malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

The EGF receptor provides an essential survival signal for SOS-dependent skin tumor development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

A highly efficient recombineering-based method for generating conditional knockout mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Targeted oncogene activation by site-specific recombination in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/978-1-4939-6424-6_28

10.1007/978-1-4939-6424-6_28

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27924582 AND SRC:MED&resulttype=core&format=json

29 March 2020

1 reference