pseudoachondroplasia in a sentence

• The researchers found that IX collagen was amassed within the pseudoachondroplasia chondrocytes.
• Orthopedic problems can result from multiple conditions such as diastrophic dysplasia and pseudoachondroplasia.
• Both conditions are commonly seen in humans with pseudoachondroplasia.
• Pankert was apparently affected by dwarfism, possibly pseudoachondroplasia.
• Nearly 60 mutations in the COMP gene have been identified in individuals with pseudoachondroplasia.
• Hetch et al . also discovered type IX collagen accumulated within the Pseudoachondroplasia chondrocytes.
• Mutations can cause the osteochondrodysplasias pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ).
• Though similarities in nomenclature may cause confusion, Pseudoachondroplasia should not be confused with achondroplasia, which is a clinically and genetically distinct skeletal dysplasia ( Francomano 2008 ).
• Studies conducted by Hetch et al . suggest that type IX collagen, a collagen active specifically in the construction of cartilage, plays a key role in pseudoachondroplasia.
• In 1995, the group led by Knowlton did a " high-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12 ."
• It's difficult to see pseudoachondroplasia in a sentence .
• This discovery indicated the pathogenesis of Pseudoachondroplasia results from the interactions of the products of the mutant COMP allele with certain  cartilage components,  particularly with type IX collagen ( Hetch et al . 1995 ).
• Pseudoachondroplasia ( also known as PSACH, Pseudoachondroplastic dysplasia, and Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome ) is an osteochondrodysplasia that results in mild to severely short stature due to the inhibition of skeletal growth primarily in the limbs ( COMP 2008 ).
• This discovery suggests that the pathogenesis of pseudoachondroplasia involves the interactions of the mutant COMP gene products with specific cartilage components, such as type IX collagen, and that it is not solely the result of the effects of mutant molecules on the production and secretion of COMP ( OMIM 2008 ).
• In 1997, Hetch and her colleagues from the Research Department at Shriners Hospital for Children in Portland, Oregon conducted further research, which led to their discovery that the intracellular fate of mutant COMP is determined by the environment of individual chondrocytes, contrary to the previous notion that COMP activities leading to Pseudoachondroplasia were determined by structural effects of the mutation on COMP; this meant that COMP activities are cell-specific ( Hetch et al . 1995 ).