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Faulty bioelectric signal responsible for facial defects caused by rare genetic disorder
Faulty bioelectric signal facial defects genetic disorder
2016/2/23
Tufts University biologists have discovered the bioelectric mechanism by which the rare genetic disorder Andersen-Tawil syndrome (ATS) causes facial abnormalities, a finding that could lead to prevent...
Dissecting the cellular and molecular mechanisms mediating neurofibromatosis type 1 related bone defects
Mouse model Osteoclasts Transforming growth factor-beta1
2015/5/21
Skeletal manifestations including short stature, osteoporosis, kyphoscoliosis, and tibial dysplasia cumulatively affect approximately 70% of patients with neurofibromatosis type 1 (NF1). Tibial pseuda...