Results 21 to 30 of about 15,952 (60)
Increased C282Y heterozygosity in gestational diabetes
, 2005 Background. Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism that is characterized by excess accumulation of iron in various organs and often leads to diabetes mellitus (DM).
Tammaa, A +7 more
core +1 more source
Association of Heterozygous Hemochromatosis C282Y Gene Mutation with Hand Osteoarthritis. [PDF]
, 2003 OBJECTIVE: To determine if there is an association between radiographic osteoarthritis (OA) of the hand and the presence of hemochromatosis HFE gene mutations.
Ryan, Daniel, MD +5 more
core +1 more source
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
, 2018 Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines.
Evans, R +9 more
core +1 more source
Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses [PDF]
, 2007 Background Hereditary Hemochromatosis (HH) is a genetic disease associated with iron overload, in which individuals homozygous for the mutant C282Y HFE associated allele are at risk for the development of a range of disorders particularly liver disease ...
White Mary +9 more
core +1 more source
Clinical expression of C282Y hornozygous HFE haernochromatosis at 14 years of age
, 2006 A 14-year-old boy who presented with debilitating lethargy was shown to have an elevated serum ferritin of 572 µg/L and a C282Y homozygous HFE genotype. Liver iron concentration was measured non-invasively by magnetic resonance imaging, which revealed a ...
Wallace, Daniel F. +5 more
core +1 more source
La mutacion H63D del gen HFE se asocia con un riesgo aumentado de carcinoma hepatocelular
, 2007 Objetivo: comprobar si las mutaciones del gen HFE, que pueden inducir sobrecarga hepática de hierro, guardan relación con el riesgo de desarrollar carcinoma hepatocelular (CHC) en sujetos predispuestos a sufrir este tumor.
Ropero,P. +8 more
core +1 more source
Frequency of HFE Gene Mutations C282Y and H63D in Bosnia and Herzegovina [PDF]
, 2006 Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a high prevalence of the C282Y mutation in individuals of the North Western European origin, whereas lower prevalence of HFE gene mutations was detected in the populations from
Terzić, Rifet +4 more
core +1 more source
, 2023 En el presente ensayo se pretende indagar, partiendo de una investigación de tipo documental, los orígenes del concepto de mutación constitucional, así como las diferentes perspectivas o dimensiones mediante las cuales ha sido observado desde el ...
Mulino Ríos, María Concepción
core +1 more source
, 2000 Background and Objectives. HFE Is a class-I MHC related protein which carries the C282Y mutation in most patients with hereditary hemochromatosis, an iron overload disease.
A.L. Fracanzani +9 more
core +2 more sources
Abstract 2622: C282Y HFE polymorphism imparts temozolomide and 17-DMAG resistance via p16INK4A
, 2010 Cancer cells have a robust requirement for iron. The HFE protein interacts with transferrin receptor and limits the cellular iron uptake. HFE polymorphisms - the most common genetic variants in Caucasians - have been associated with a variety of cancers.
James Connor +4 more
core +1 more source