Exon 4 of the ACVR1 gene was amplified and analysed by sequencing. All three cases revealed common heterozygous mutation i.e., c.617(G>A). Identification of this mutation would lead to decrease in misdiagnosis and subsequent iatrogenic harm caused to these children by unnecessary surgical ...
during male sexual differentiation [106]. A FOP patient with the R258G mutation in the ACVR1 gene that presented gonadal dysgenesis with sex reversal (karyotype 46, XY female) has been reported. It was suggested that the important role of ACVR1 in the...
ACVR1 and its signalling were initially studied as a type I BMP receptor. Following the discovery of ACVR1 as the gene responsible for FOP, prior knowledge of ACVR1 was combined with new findings regarding its function and regulation in order to advance towards a potential treatment for this...
amino acid change to p.G328W. No ACVR1 gene mutation was detected in their parents.Conclusion: This case has a typical congenital malformation of the hallux, which can be manifested as a paroxysmal soft tissue mass before heterotopic ossification, which can be diagnosed by detecting ACVR1 gene...
ACVR1/ALK2 gene, thus demonstrating the de novo origin of the mutation. On the basis of the result of genetic test, the patient was eventually diagnosed with FOP (the disease progression is shown in Fig. 4). Computed tomography (CT) (Fig. ...
Generation of a mouse with conditional activation of the BMP type I receptor ACVR1/ALK2 provides a model for investigating activated ACVR1/ALK2 gene function in a tissue-specific manner in a mammalian system (Fukuda et al., 2006). Although the ca mutation (ACVR1/ALK2; Q207D) does not ...
, 2011). Mutation of two other components of BMP/GDF signaling cause heritable developmental disorders affecting the joints. Heterozygous missense mutations in the gene encoding the BMP antagonist NOG causes the autosomal-dominant disorders proximal symphalangism and multiple synostoses syndrome (Gong ...
Diffuse midline gliomas (DMG) harbouring H3K27M mutation are paediatric tumours with a dismal outcome. Recently, a new subtype of midline gliomas has been described with similar features to DMG, including loss of H3K27 trimethylation, but lacking the can
Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ... DR Carvalho,MMM Navarro BJAF Martins KEFA Coelho WD Mello RI Takata CE Speck-Martins - 《Clinical Genetics》 被引量: 49发表: 2010年 A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of...
ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare but extremely disabling genetic disorder of the skeletal system, and is characterized by... DY Lee,Cho, Tae-Joon,HR Lee,... - 《Journal...