A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0041-1728650
Abstract: Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndromes including craniofacial anomalies, such… read more here.
Keywords: mn1 gene; mn1 terminal; terminal truncation; craniofacial anomalies ... See more keywords
Frequent MN1 Gene Mutations in Malignant Peripheral Nerve Sheath Tumor
Sign Up to like & getrecommendations! Published in 2020 at "AntiCancer Research"
DOI: 10.21873/anticanres.14642
Abstract: Background/aim: Malignant peripheral nerve sheath tumor (MPNST) is a rare soft-tissue tumor, and its diagnosis is usually made histopathologically. The effectiveness of chemotherapy and radiotherapy has not been established. We elucidated prognostic factors, diagnostic markers,… read more here.
Keywords: vrh mpnst; malignant peripheral; mn1 gene; gene ... See more keywords