Research Article

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10/27/2009
C282Y; Diabetes mellitus type 2; H63D; Hereditary hemochromatosis; HFE; Women

Hereditary hemochromatosis is one of the most common autosomal recessive diseases; it is characterized by excess absorption of iron. Clinically, the major challenge is to diagnose increased iron deposition before irreversible tissue damage has occurred. C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with ... more

K.B. Gomes; M.G. Carvalho; F.F. Coelho; I.F. Rodrigues; A.L. Soares; D.A. Guimarães; A.P. Fernandes
11/07/2013
Diabetic wounds; Module analysis; Phylogenetic analysis

This study aimed to identify marker genes in diabetic wounds using a dataset based on a DNA microarray of dermal lymphatic endothelial cells, and our results provide a basic understanding of diabetic wounds through further study of these differentially expressed genes (DEGs). From the Gene Expression Omnibus database, we downloaded a gene expression microarray (GSE38396) that includes 8 ... more

T. Ni; N. Wang; Z.G. Mao; M. Yao
01/31/2014
Co-expression network; Expressed genes; Module analysis; Pathway analysis

This study aimed to identify differentially expressed genes (DEGs) of unruptured intracranial aneurysms (IAs) and provide beneficial information for early diagnosis and treatment of IAs. The gene expression profile GSE26969 from the Gene Expression Omnibus database was downloaded, which included six human IA samples: three intracranial arterial aneurysm samples and three normal ... more

L. Chen; Y. Fan; J. Wan
02/25/2005
Body iron overload; European descent; Genetic diseases; Hereditary hemochromatosis; HFE mutations

Hereditary hemochromatosis (HH) is the most common genetic disease among individuals of European descent. Two mutations (845G®A, C282Y and 187C®G, H63D) in the hemochromatosis gene (HFE gene) are associated with HH. About 85-90% of patients of northern European descent with HH are C282Y homozygous. The prevalence of HH in the Brazilian ... more

A.L.C. Martinelli; R. Filho; S. Cruz; R. Franco; M. Tavella; M. Secaf; L. Ramalho; S. Zucoloto; S. Rodrigues; M. Zago
07/14/2009
Brazil; Hereditary hemochromatosis; HFE gene; S65C mutation

Development of hereditary hemochromatosis is asso­ciated with the C282Y, H63D or S65C mutations in the hemochro­matosis gene. Though there is extensive knowledge about the former two, there is little information on the mechanism of action and the allelic frequency of the S65C mutation. We examined the prevalence of the S65C mutation of the hemochromatosis gene in Brazilians with clinical ... more

V.C. Oliveira; F.A. Caxito; K.B. Gomes; A.M. Castro; V.C. Pardini; A.C.S. Ferreira
04/27/2016
Espírito Santo-Brazil; Hereditary hemochromatosis; HFE gene; Iron metabolism disorders; Iron overload; Polymorphisms

Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, ... more

L.N.R. Alves; E.V.W. Santos; E. Stur; A.M.A.Silva Conforti; I.D. Louro; L.N.R. Alves; E.V.W. Santos; E. Stur; A.M.A.Silva Conforti; I.D. Louro; L.N.R. Alves; E.V.W. Santos; E. Stur; A.M.A.Silva Conforti; I.D. Louro
11/02/2008
Gene expression profile; Myelodysplastic syndrome; Refractory anemia with excess blasts; Serial analysis of gene expression methodology

The molecular pathogenesis of myelodysplastic syndromes (MDS) is poorly understood. In order to expand our knowledge of genetic defects in MDS, we determined the overall profile of genes expressed in bone marrow from patients with refractory anemia with excess blasts (RAEB) by serial analysis of gene expression (SAGE). The present report describes a partial transcriptome of RAEB bone marrow ... more

C.F. Mendiburu; W.A. Silva; O. Ricci; C.R. Bonini-Domingos; A.C. Fett-Conte
04/29/2008
Myelodysplastic syndrome; RAP1GAP; Real-time PCR

To find the underlying causes of primary myelodysplastic syndrome (MDS), the gene expression profiling of both CD34+ cells and bone marrow mononuclear cells from MDS patients was performed using oligonucleotide microarray and cDNA microarrays, respectively. Several candidate genes which were differentially expressed in MDS patients versus normal controls were selected and confirmed in ... more

X. Qi; Z. Chen; J. Qian; J. Cen; M. Gu
11/04/2011
Clonal chromosomal abnormalities; Monosomy 21; Myelodysplastic syndrome

This study reports on a cytogenetic finding in a bone marrow examination of a 47-year-old male patient treated in the Hematology and Blood Transfusion Service of the Hospital de Base in São José do Rio Preto, São Paulo State, Brazil. The only alteration found at diagnosis of myelodysplastic syndrome (MDS) subtype refractory anemia with excess blasts (RAEB-2) was clonal monosomy of chromosome ... more

P.C. Freitas; A.B. Carvalho-Salles; C.F. Mendiburu; O. Ricci; A.C. Fett-Conte

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