Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human molecular genetics - 15 Dec 2014

Inoue Shin-Ichi, Moriya Mitsuji, Watanabe Yusuke, Miyagawa-Tomita Sachiko, Niihori Tetsuya, Oba Daiju, Ono Masao, Kure Shigeo, Ogura Toshihiko, Matsubara Yoichi, Aoki Yoko

Abstract excerpt

Cardio-facio-cutaneous (CFC) syndrome is one of the 'RASopathies', a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS-MAPK pathway. Germline mutations in BRAF cause CFC syndrome, which is characterized by heart defects, distinctive facial features and ectodermal abnormalities. To define the pathogenesis and to develop a potential therapeutic approach in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Benzazepines
Share to Ectodermal Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Failure to Thrive

Share to Gene Knock-In Techniques

Share to Histone Deacetylase Inhibitors

Share to Histone Demethylases

Share to MAP Kinase Kinase Kinases

Source

Identifiers

PMID: 25035421
DOI: 10.1093/hmg/ddu376

Genes

BRAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.PMID 25035421Read ↗

Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.Semantic proximity Read ↗

Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome.Semantic proximity Read ↗

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.Semantic proximity Read ↗

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic ImplicationsSemantic proximity Read ↗

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.Semantic proximity Read ↗

Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.Semantic proximity Read ↗

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?Semantic proximity Read ↗

BRAF gene: From human cancers to developmental syndromesSemantic proximity Read ↗

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Semantic proximity Read ↗

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.Semantic proximity Read ↗

Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish.Semantic proximity Read ↗

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.