نتایج جستجو برای: dentinogenesis imperfecta
تعداد نتایج: 5063 فیلتر نتایج به سال:
Purpose The American Academy of Pediatric Dentistry (AAPD) recognizes that pediatric dentists are uniquely qualified to manage the oral health care needs of children with heritable dental developmental anomalies. These children have multiple, complex problems as their dental conditions affect both form and function and can have significant psychological impact. These conditions may present earl...
Purpose The American Academy of Pediatric Dentistry (AAPD) recognizes that pediatric dentists are uniquely qualified to manage the oral health care needs of children with heritable dental developmental anomalies. These children have multiple, complex problems as their dental conditions affect both form and function and can have significant psychological impact. These conditions may present earl...
Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder with a broad clinical heterozygosis, which can be complicated by other connective tissue disorders like Ehlers-Danlos syndrome (EDS). OI/EDS are rarely documented. Most OI/EDS mutations are located in the N-anchor region of type I procollagen and predominated by glycine substitution. We identified a c.3521C>T (p.A1174V) h...
BACKGROUND Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify n...
BACKGROUND Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass. METHODS The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features of these patients were also recorded. ...
Deletion of smpd3 induces osteogenesis and dentinogenesis imperfecta in mice. smpd3 is highly elevated in the parietal bones of developing mouse calvaria, but not in sutural mesenchymes. Here, we examine the mechanism of smpd3 regulation, which involves BMP2 stimulation of Runx2. smpd3 mRNA expression increased in response to BMP2 treatment and Runx2 transfection in C2C12 cells. The Runx2-respo...
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