Novel gain-of-function mutation of TRPV4 associated with accelerated chondrogenic differentiation of dental pulp stem cells derived from a patient with metatropic dysplasia
Sign Up to like & getrecommendations! Published in 2019 at "Biochemistry and Biophysics Reports"
DOI: 10.1016/j.bbrep.2019.100648
Abstract: Metatropic dysplasia is a congenital skeletal dysplasia characterized by severe platyspondyly, dumbbell-like deformity of long tubular bones, and progressive kyphoscoliosis with growth. It is caused by mutations in the gene TRPV4, encoding the transient receptor… read more here.
Keywords: metatropic dysplasia; trpv4; dysplasia; stem ... See more keywords
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.04.007
Abstract: Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily… read more here.
Keywords: causative variant; metatropic dysplasia; diagnosis; trpv4 gene ... See more keywords