Osteogenesis imperfecta (OI) is a very common, inherited autosomal dominant disease. It characterized by deformity and fragility in bone structure, blue sclera, hearing loss, scoliosis, dentinogenesis imperfecta. Molecular studies have shown that the cause of OI mutation genes named COLIA1 COLIA2 both chains collagen. Biochemical tests examine collagen structure or molecular DNA are used for ma...

OBJECTIVE Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients....

Albumin protein is present in developing teeth of several species. Oligomer primers and cRNA probes specific for albumin were designed to perform RT-PCR, and for in situ hybridization, respectively. In situ hybridization failed to reveal albumin expression in any tooth cells, however, albumin PCR products were amplified from tissues adhering to the roots of developing teeth from four-week-old m...

We describe two patients with osteogenesis imperfecta who developed transient osteoporosis in both hips sequentially.

Hereditary defects of dentin include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD). They are characterized by abnormal dentin for­ mation. Within the last 32 years, since the first classification system was pro­ posed, significant advances have been made regarding their genetic aetio­ logies. In the classification system suggested by Shields et al (1973), den­ tinogenesis imperfecta...

Amelogenesis imperfecta is a broad classification of hereditary enamel defects, exhibiting both genetic and clinical diversity. Most amelogenesis imperfecta cases are autosomal dominant disorders, yet only the local hypoplastic form has been mapped to human chromosome 4q between D4S242 1 and the albumin gene. An enamel protein cDNA, termed ameloblastin (also known as amelin and sheathlin), has ...

Thimios A. Mitsiadis1,2, Marie-Laurence Mucchielli1, Expression of the Sylva Raffo2, Jean-Pierre Proust2, Peter Koopman3 and Christo Goridis1 transcription factors Otlx2, 1Laboratoire de Génétique et Physiologie du Développement, IBDM, Campus de Luminy case 907, 2IMEB EA 2198, Faculté Barx1 and Sox9 during d’Odontologie, Université de la Méditerranée, Marseilles, France, and 3Centre for Molecul...

Comparative morphological and developmental studies, including a recent comparative study of tooth development among the Afrotherian mammals, are indicating the types of genetic mechanisms responsible for the evolution of morphological differences among major mammalian groups.