A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Human Genetics"
DOI: 10.1038/s10038-021-00915-z
Abstract: Auriculocondylar syndrome (ARCND) is an autosomal monogenic disorder characterised by external ear abnormalities and micrognathia due to hypoplasia of the mandibular rami, condyle and coronoid process. Genetically, three subtypes of ARCND (ARCND1, ARCND2 and ARCND3)… read more here.
Keywords: guanine nucleotide; nucleotide binding; gnai3; gnai3 gene ... See more keywords
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
Sign Up to like & getrecommendations! Published in 2021 at "BMC Pregnancy and Childbirth"
DOI: 10.1186/s12884-021-04238-x
Abstract: Background Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we report a… read more here.
Keywords: auriculocondylar syndrome; acs; case; gnai3 ... See more keywords
Guanine and nucleotide binding protein 3 promotes odonto/osteogenic differentiation of apical papilla stem cells via JNK and ERK signaling pathways
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Medicine"
DOI: 10.3892/ijmm.2018.3984
Abstract: Odonto/osteogenic differentiation of stem cells from the apical papilla (SCAPs) is a key process in tooth root formation and development. However, the molecular mechanisms underlying this process remain largely unknown. In the present study, it… read more here.
Keywords: jnk; differentiation; gnai3; erk signaling ... See more keywords