Searchable abstracts of presentations at key conferences on calcified tissues

ba0004is19 | (1) (1) | ICCBH2015

Rare sclerosing bone dysplasias

Gen Nishimura

Sclerosing bone dysplasias (too much bone diseases) are divided into two major groups, one group caused by impaired bone resorption and the other by increased bone formation. The former comprises a group of osteopetrosis (disorders due to abnormal osteoclastogenesis or osteoclast dysfunction) with relatively homogeneous skeletal phenotypes. By contrast, the latter encompasses a complex group of disorders with heterogeneous pathogeneses and diverse skeletal phenotypes.<p cl...

ba0004is19biog | (1) (1) | ICCBH2015

Rare sclerosing bone dysplasias

Nishimura Gen

Biographical DetailsDr Gen Nishimura is Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Meteropolitan Children’s Medical Center, Tokyo, Japan. After obtaining the medical degree at Keio University School of Medicine in Tokyo, Dr G Nishimura started his career of diagnostic radiology in the late 1970s. During the exposure to pediatric radiology in early 1980s, he develope...

ba0003pp177 | Chondrocytes and cartilage | ECTS2014

The transcription factor Foxc1 controls endochondral ossification through the direct regulation of PTHrP and Cola10a1 expression under the partnership with Gli2 and Runx2

Yoshida Michiko , Hata Kenji , Takashima Rikako , Iseki Sachiko , Yamamoto-Takano Teruko , Nishimura Riko , Yoneda Toshiyuki

Endochondral ossification is regulated by various transcription factors in a temporo-spatial manner. Identification of novel transcription factors involved in chondrogenesis would facilitate to uncover the molecular basis of endochondral ossification. To approach this, we generated transgenic mice in which chondrocytes were specifically fluorescence-labeled with Venus gene using Col2a1 gene promoter, thereby allowing us to isolate Venus-positive chondrogenic cells using FACS A...

ba0005p189 | Cell biology: osteoclasts and bone resorption | ECTS2016

Pathophysiological implication of Autotaxin on osteoclast function

Flammier Sacha , Gicquel Tristan , Duboeuf Francois , Peyruchaud Olivier , Coury Fabienne , Machuca-Gayet Irma

Autotaxin (ATX) is a secreted protein produced by various tissues in the body including the liver, adipose tissue and bone. Autotaxin (ATX) is an enzyme with a phospholipase D activity responsible for cleavage of lysophosphatidyl-choline (LPC) in lysophosphatidic acid (LPA). LPA is a bio phospholipid, which acts as a growth factor, affecting proliferation, differentiation, and migration. It has been shown that the biological effect of LPA could be the direct consequence of loc...

ba0001pp283 | Genetics | ECTS2013

Discovery and replication of several loci significantly associated with lean body mass: a large meta-analysis of genome wide association studies (GWAS) from the ‘charge’ and ‘gefos’ consortia

Kiel Douglas P , Yerges-Armstrong Laura M , Hsu Yi-Hsiang , Stolk Lisette , Karasik David , Loos Ruth J F , Gudnason Vilmundar , Smith Albert , O'Connell Jeffrey R , Fu Amish , Fu Mao , Streeten Elizabeth A , Cauley Jane A , Robbins John A , Psaty Bruce , Johnson Toby , Kutalik Zoltan , Mitchell Braxton D , Livshits Gregory , Harris Tamara B , Ohlsson Claes , Zillikens M Carola

Introduction: The creatine kinase (CK) is a dimeric enzyme, involved in energetical metabolism. It is present in many tissues, but higher concentration in skeletal and cardiac muscle.Therefore, conditions that involve muscle tissue may increase this serum enzyme. Such enzyme elevation is usually observed in inflammatory myopathies and others autoimmune diseases.Sometimes some elevation in CK is not fully understood out off these co...

ba0001pp284 | Muscle, physical activity and bone | ECTS2013

Raising CK: what it means according to different clinical landscape?

Juan Jose Scali , Visentini Susana , Berruezo Ramiro , Sevilla Daniel , Pacheco Gonzalo , Garcia Rodrigo

Introduction: The creatine kinase (CK) is a dimeric enzyme, involved in energetical metabolism. It is present in many tissues, but higher concentration in skeletal and cardiac muscle.Therefore, conditions that involve muscle tissue may increase this serum enzyme. Such enzyme elevation is usually observed in inflammatory myopathies and others autoimmune diseases.Sometimes some elevation in CK is not fully understood out off these co...

ba0004p106 | (1) | ICCBH2015

Metatropic dysplasia is associated with increased fracture risk and increased markers of bone turnover

Bober Michael , Duker Angela , Carney Megan , Ditro Colleen , Rogers Kenneth , Mackenzie William

Metatropic dysplasia (MD) was first described by Maroteaux et al. in 1966. Its name was derived from the Greek word metatropos which means ‘changing pattern’ because individuals with this diagnosis begin life with a short-limbed dysplasia and a long trunk with narrow chest, and over time their dysplasia becomes short-trunked due to progressive kyphoscoliosis1. It is now recognized that MD is caused by gain-of-function mutations in transie...