A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or complete alopecia, as well as nail dystrophy. Mutations in the type II hair keratin gene KRT85 and the HOXC13 gene on chromosome 12q have recently been identified in families with autosomal‐recessive PHNED. In the present study, we have analyzed a consanguineous Syrian family with an affected girl having complete alopecia and nail dystrophy since birth. The family clearly showed linkage to chromosome 12q13.13–12q14.3, which excluded the KRT85 gene. Sequencing of another candidate gene HOXC13 within the linkage interval identified a homozygous frameshift mutation (c.355delC; p.Leu119Trpfs*20). Expression studies in cultured cells revealed that the mutant HOXC13 protein mislocalized within the cytoplasm, and failed to upregulate the promoter activities of its target genes. Our results strongly suggest crucial roles of the HOXC13 gene in the development of hair and nails in humans.     

The origin identification method for crude drugs derived from arthropods and annelids using molecular biological techniques

Journal of Natural Medicines - We evaluated whether the origins of crude drugs derived from arthropods and annelids could be identified using molecular biological techniques. DNA was extracted from...     

Relationship between joint motion and acceleration during single-leg standing in healthy male adults

[Purpose] The purpose of this study was to clarify the relationship between acceleration and joint movement by synchronizing accelerometers and a three-dimensional motion analysis system, and to show the utility of an accelerometer as a postural control assessment tool. [Subjects and Methods] Head, lumbar, shank accelerations and various joint angles during single-leg standing were measured of 20 healthy males. Root mean squares of acceleration and joint angle were calculated. Fast Fourier transform analysis was performed for head, lumbar, and shank accelerations, and the median frequencies were calculated. Then, principal component analysis was performed for the median frequency of each acceleration. Stepwise multiple regression analysis was also used to examine the relationship between joint angle and acceleration. [Results] The score of the first principal component was highest for shank acceleration, while that of the second principal component was highest for lumbar and head accelerations. In multiple regression analysis, hip flexion/extension and adduction/abduction were identified as variables associated with head acceleration. [Conclusion] We were able to confirm the aggregation of acceleration into two components, which we interpreted as postural control strategies using primarily the ankle and hip joints. Furthermore, though multiple regression analysis, we were able to clarify the joint movement indicated by acceleration of each segment.Key words: Postural control, Acceleration, Ankle sprain