Searchable abstracts of presentations at key conferences on calcified tissues

ba0004op1 | (1) | ICCBH2015

Skeletal and bone material phenotype in recessive osteogenesis imperfecta due to a novel homozygous point mutation in TMEM38B

Webb Emma , Balasubramanian Meena , Cole Trevor , Stewart Sue , Crabtree Nicola , Vogt Julie , Roschger Paul , Fratzl-Zelman Nadja , Klaushofer Klaus , Hogler Wolfgang

Osteogenesis imperfecta (OI) classification has recently been broadened to include genes that primarily affect osteoblast differentiation. TMEM38B encodes TRIC-B, a ubiquitously expressed monovalent cation-specific channel protein involved in calcium release from the endoplasmic reticulum. How alterations in TMEM38B cause OI remains poorly understood and bone matrix characteristics in affected patients have not previously been described.<p class="abstext"...