Sentence examples for disorder osteogenesis from inspiring English sources

We previously used adeno-associated virus (AAV) vectors to target and inactivate mutant COL1A1 genes in MSCs from individuals with the brittle bone disorder, osteogenesis imperfecta (OI).

Biallelic defects in BMP1 were recently described as the cause of a severe recessive variant of the brittle bone disorder Osteogenesis imperfecta [ 22].

As an example, in the connective tissue disorder osteogenesis imperfecta (OI) smaller, more disorganized fibrils result in the assembly into smaller fibers [ 28].

Previous studies have linked germ-line mutations in Lepre1 and CRTAP to rare forms of the collagen disorder osteogenesis imperfecta (Morello et al, 2006; Cabral et al, 2007; Baldridge et al, 2008), mutations resulting in reduced 3-hydroxylation of the α chain of type I collagen.

Indeed, the osteopathic features of RTT (minimal bone deformity, low energy bone fractures, and tendency towards spinal curvature) are similar to those reported in collagen type 1 genetic disorder (osteogenesis imperfecta; brittle bone disease) [62] pointing towards the possible importance of collagen defects in RTT.

Persons with genetic collagen disorders (Osteogenesis Imperfecta) were excluded.

Prone to fracture Richard suffers from a genetic disorder called osteogenesis imperfecta, also known as brittle bone disease.

She has a bone disorder called osteogenesis imperfecta or 'brittle bone disease' where her bones are prone to fracture.

The role of canonical Wnt signaling in bone development and remodeling was first identified when the loss-of-function mutation of the LDL receptor-related protein (LRP5) was associated with osteoporosis psuedoglioma syndrome, a recessive disorder characterized by osteogenesis imperfecta with low bone mass and a predisposition to fractures as well as ocular defects [ 7, 8].

Although most individuals exhibiting joint hypermobility do not experience problems, a diagnosis of JHS may be given when symptoms such as arthralgia, proprioception difficulties, fatigue, soft tissue injury and joint instability are observed in the absence of genetic markers to indicate disorders such as osteogenesis imperfecta or Marfan syndrome (10).

Australian journalist and comedian Stella Young, who has the same genetic bone disorder I do (called "Osteogenesis Imperfecta" or OI), calls the misplaced admiration of disabled people because of our disabilities "inspiration porn".