6 ফলাফল
X-linked Adrenoleukodystrophy (X-ALD) is a genetic disease that caused by mutations in adenosine triphosphate [ATP]-binding-cassette transporter superfamily D member 1 (ABCD1) gene. We generated an induced pluripotent stem cell (iPSC) line from a 21-year-old male X-ALD patient-derived fibroblasts by
This year has seen major progress in gene therapy, particularly that directed to the liver. Genes have been characterized for Wilson's disease, Krabbe's disease, Canavan's disease, adrenoleukodystrophy, glucose-6-phosphatase, and long-chain 3-hydroxyacyl-CoA dehydrogenase. Moreover, the
Skeletal fluorosis is a metabolic bone disease caused by accumulation of fluoride and is generally associated with chronic exposure to fluoride-contaminated groundwater, a phenomenon endemic to developing countries. Whereas elevated water fluoride concentrations do not constitute a public health
Hyperphosphatasia, or hereditary bone dysplasia with hyperphosphatasaemia, is a rare genetic disorder which is characterised by failure to transform woven into lamellar bone. Clinical, radiological and histological features establish the diagnosis, fractures, deformities, diffuse sclerosis on
Chronic idiopathic hyperphosphatasia (CIH), or juvenile Paget disease, is a rare disorder characterized by increased bone turnover and progressive enlargement of bones. We report a girl, 6 1/2 years old, with a history of three fractures, short stature, delayed eruption of teeth, and poor hair
The generation of disease-specific induced pluripotent stem cell (iPSC) lines from patients with incurable diseases is a promising approach for studying disease mechanisms and drug screening. Such innovation enables to obtain autologous cell sources in regenerative medicine. Herein, we report the