Stops along the RAS pathway in human genetic disease
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In humans, altered ERK activation causes a variety of developmental disorders which have ASD-like symptoms.
“In humans, altered ERK activation causes a variety of developmental disorders which have ASD-like symptoms, although the pathogenic mechanisms are not precisely understood.”
From Transient blockade of ERK phosphorylation in the critical period causes autistic phenotypes as an adult in mice (2015) · cites this paper as [26]
Mutations in different genes in the RAS/ERK pathway cause neuro-cardio-facial cutaneous (NCFC) syndrome, which is frequently associated with varying degrees of ASD-like symptoms.
“For instance, mutations in different genes in the RAS/ERK pathway cause developmental disorders known as neuro-cardio-facial cutaneous (NCFC) syndrome, which is frequently associated with varying degrees of ASD-like symptoms26.”
From Transient blockade of ERK phosphorylation in the critical period causes autistic phenotypes as an adult in mice (2015) · cites this paper as [26]
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- Authors
- Bentires-Alj, M., Kontaridis, M. I., & Neel, B. G.
- Affiliations
- Beth Israel Deaconess Medical Center (US)
- Venue
- Nature Medicine
- Published
- 2006-03
- Volume
- 12
- Issue
- 3
- Pages
- 283-285
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W1994115179
- Cited by
- 190
- References
- 15
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 1 · 2020: 4 · 2019: 5 · 2018: 4 · 2017: 6 · 2016: 8 · 2015: 10 · 2014: 13 · 2013: 9 · 2012: 15
- FWCI
- 9.95
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Tyrosine Phosphatases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Kinase Regulation and GTPase Signaling
- Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
- Keywords
- RAS/MAPK pathway, RAS mutations, rare genetic disorders, pathway regulation, cancer
- MeSH terms
- Abnormalities, Multiple, Humans, Neoplasms, Syndrome, ras Proteins, Genetic Diseases, Inborn
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