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Artem V Artemov, Eugenia S Boulygina, Svetlana V Tsygankova, Artem V Nedoluzhko, Nikolay N Chekanov, Natalia M Gruzdeva, Natalia D Selezneva, Irina F Roshchina, Svetlana I Gavrilova, Boris B Velichkovsky, Konstantin G Skryabin, Egor B Prokhortchouk
We report a family case of type II early-onset Alzheimer's disease (AD) inherited over three generations. None of the patients in the family had mutations in the genes believed to be the major risk factors for AD, such as APP, presenilin 1 or 2. Targeted exome sequencing of 249 genes that were previously reported to be associated with AD revealed a rare mutation in hemochromatosis (HFE) gene known to be associated with hemochromotosis. Compared to previous studies, we show that HFE mutation can possess the risk of AD in transferrin-, APOE- and APP-normal patients...
2014: Human Genome Variation
Robert M Watson, Olga I Griaznova, Christopher M Long, Michael J Holland
We fabricated and evaluated high-throughput kinetic thermal cyclers with 768-reaction capacity for kinetic polymerase chain reaction (kPCR)-based genotyping and kinetic reverse transcription (kRT)-PCR-based transcript quantitation. The system uses dye-based detection with ethidium bromide and a single DNA polymerase-based PCR or RT-PCR assay. Allele-specific detection of the two most common hereditary hemochromotosis mutant alleles, C282Y and H63D, was reliably measured by kPCR using human DNA templates as low as 10 genome equivalents per assay...
June 1, 2004: Analytical Biochemistry
No abstract text is available yet for this article.
September 27, 1954: Il Policlinico. Sezione Pratica
J Yoshida
Pathological iron deposition in liver is often found in various liver diseases. The deposited iron is thought to be one of the most important factor of liver cell injury, not only in hemochromotosis but also in cirrhosis following hepatitis virus B or C infection. To investigate the influence of the deposited iron on damage and regeneration of hepatocyte, primary cultured hepatocytes obtained from carbonyl iron-loaded rats were treated with carbon tetrachloride (CCl4) in the presence or absence of hepatocyte growth factor (HGF)...
January 1995: [Hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science
S Anand, R R Schade, C Bendetti, R Kelly, B S Rabin, J Krause, T E Starzl, S Iwatsuki, D H Van Thiel
A patient with coexistent hemochromatosis and alpha-1-antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others with alpha-1-antitrypsin deficiency but none with both conditions. The role of family studies in the early recognition and possible prevention of overt clinical disease in individuals with either of these two genetic diseases is discussed.
September 1983: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
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