Computing the Pathogenicity of Wilson’s Disease ATP7B Mutations: Implications for Disease Prevalence

Novel mutations in ATP7B gene of Wilson\'s disease in Iranian patients

Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...

prevalence of atp7b gene mutations in iranian patients with wilson disease

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

BACKGROUND Wilson disease (WD) is an autosomal recessive disorder. The WD gene, ATP7B, encodes a copper-transporting ATPase involved in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver. ATP7B mutations cause copper to accumulate in the liver and brain. OBJECTIVES We examined the ATP7B mutation spectrum in Wilson disease patients in Iran. ...

The Radiological Prevalence of Incidental Kienböck Disease

  Background:To determine the prevalence of incidental Kienböck disease.   Methods: A retrospective analysis of 150,912 radiological reports or images obtained over a five year period was performed of 76,174 patients who underwent a radiograph or computed tomography scan which included the wrist, in Edinburgh and Lothian, UK. Results: There were 5 cases of incidental Kienböck disease and 13 cas...

Immunogenicity of the Multi-Epitopic Recombinant Glycoproteins of Newcastle Disease Virus: Implications for the Serodiagnosis Applications

Background: Newcastle disease virus (NDV) is a dangerous viral disease, infecting a broad range of birds, and has a fatal effect on the poultry industries. The attachment and consequently fusion of the virus to the host cell membrane is directed by the two superficial glycoproteins, the hemagglutinin-neuraminidase (HN) and the fusion (F) which is considered as the important tar...