Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p212 | (1) | ICCBH2019

Genetic loss of heparanase does not inhibit osteochondromas in Ext1 and Ext2 double heterozygous hereditary multiple osteochondroma mouse model

Nannuru Kalyan , Jimenez Johanna , Brydges Susannah , Murphy Andrew , Economides Aris , Hatsell Sarah

Hereditary multiple osteochondromas (HMO) is an autosomal dominant rare genetic disorder due to LOF heterozygous mutations in EXT1 or EXT2 genes. HMO is an unmet medical condition where patients often requiring multiple surgeries. HMO is characterized by painful cartilaginous capped bony outgrowths at the growth plate (GP) regions of long bones, ribs and other skeletal elements. The molecular mechanism by which these mutations lead to disease is unknown. Mutations in EXT1 and ...

ba0005p465 | Other diseases of bone and mineral metabolism | ECTS2016

Tracking inflammation in mouse model of fibrodysplasia ossificans progressiva prior to the detection of heterotopic ossification as a potential biomarker

Nannuru Kalyan , Jimenez Johanna , Huang Lily , Wen Xialing , Wang Lili , Xie LiQin , Idone Vincent , Murphy Andrew , Hatsell Sarah , Economides Aris

Fibrodysplasia ossificans progressiva (FOP) is a rare debilitating genetic disease characterized by abnormal progressive heterotopic endochondrial ossification of soft tissues. FOP results from mutations in the intracellular domain of the type I BMP receptor ACVR1 (ALK2) the most common of which is R206H. FOP mutations alter the sensitivity of ACVR1 to Activin A from an antagonist to an agonist. We have previously shown that Activin A is necessary and sufficient for driving he...

ba0007p121 | (1) | ICCBH2019

An Acvr1[R258G] ‘conditional on' mouse model of atypical fibrodysplasia ossificans progressiva (FOP) is Activin A dependent

Huang Lily , Schoenherr Chris , Wang Lili , Wen Xialing , McClain Joyce , Zhang Qian , Nannuru Kalyan , Idone Vincent , Murphy Andrew , Economides Aris , Hatsell Sarah

FOP is an autosomal dominant disorder characterized by early onset, episodic and progressive ossification of skeletal muscle and associated connective tissue. FOP is driven by mutations in the intracellular domain of ACVR1 (ALK2), the most common of which is R206H. However, rare FOP causing mutations exist throughout the GS and the kinase domain of Acvr1. Several of these mutations result what appears to be a more severe FOP phenotype that includes significant developmental ab...