Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p8 | (1) | ICCBH2019

Polyhydramnios: sole risk factor for non-traumatic fractures in two infants

Nadeau Genevieve , Olivier Patricia , Fiscaletti Melissa , Campeau Philippe , Alos Nathalie

Bone loading is a primary determinant of bone strength in later childhood and adulthood. Our understanding of how mechanical stimuli generated by foetal kicking and movements impact skeletal development is still limited. Many studies suggest that a sufficient and balanced supply of energy, proteins, vitamins, calcium, phosphorus, and other nutrients is an essential prerequisite for normal bone development. However, only few studies highlight the contribution of the biomechanic...

ba0006p113 | (1) | ICCBH2017

A challenging case of hyperphosphatemic tumoral calcinosis

Ribault Virginie , Campeau Philippe M. , Laberge-Malo Marie , Olivier Patricia , Nyalendo Carine , Alos Nathalie

: Hyperphosphatemic tumoral calcinosis (HTC) is a rare autosomal recessive metabolic disorder characterized by ectopic calcifications due to progressive deposition of basic calcium phosphate crystals in soft tissues. The biochemical hallmark of HTC is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in three genes: in the fibroblast growth factor-23 gene (FGF23) coding for a potent phosphaturic protein, in GALNT3, g...

ba0002lb2 | (1) | ICCBH2013

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass

Laine Christine , Joeng Kyu Sang , Campeau Philippe , Kiviranta Riku , Tarkkonen Kati , Grover Monica , Lu James , Pekkinen Minna , Wessman Maija , Heino Terhi , Nieminen-Pihala Vappu , Laine Tero , Kroger Heikki , Cole William , Lehesjoki Anna-Elina , Krakow Deborah , Curry Cynthia , Cohn Daniel , Gibbs Richard , Lee Brendan , Makitie Outi

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...