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Microbial Genetics   Research Article

Screening for feature genes associated with hereditary hemochromatosis and functional analysis with DNA microarrays

Authors: J. Wang, X. Zhou, J. Zhao, Z. Li and X. Li

The aim of this study was to identify feature genes that are associated with hereditary hemochromatosis (HHC; iron overload) in cardiac and skeletal muscle of mice. First, the expression profile GSE9726 was downloaded from Gene Expression Omnibus database which included 12 samples. Then the differentially expressed genes (DEGs) were identified by R langua.. Read More»

Genet. Mol. Res. 12(4):
2013.December.4.11
DOI:
10.4238/2013.December.4.11
Human Genetics   Research Article

Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation

Authors: N. Zhao, Y. Sui, X.F. Li, W. Liu, Y.P. Lu, W.H. Feng, C. Ma, Y.W. Wang, H.X. Bao, F. Huang, H. Wang, D.X. Yi, W.T. Han and M. Jiang

We studied four Chinese families with pure hereditary spastic paraplegia (HSP) to investigate the clinical features and associated genetic mutations. Linkage analysis was performed for all families to map the disease locus onto autosomal chromosomes, and related loci involved in HSP on the X chromosome were also examined. Polymerase chain reaction (PCR) s.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.33
DOI:
10.4238/2015.November.18.33
Human Genetics   Research Article

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Authors: V.C. Oliveira1,2, F.A. Caxito1, K.B. Gomes3 , A.M. Castro1,V.C. Pardini1 and A.C.S. Ferreira1,2

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 hemochr.. Read More»

Genet. Mol. Res. 8(3):
vol8-3gmr562
DOI:
10.4238/vol8-3gmr562
Human Genetics   Research Article

Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gene with diabetes mellitus type 2 in a case-control study of women in Brazil

Authors: K.B. Gomes, M.G. Carvalho, F.F. Coelho, I.F. Rodrigues, A.L. Soares, D.A. Guimarães and A.P. Fernandes

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 hemochromatosi.. Read More»

Genet. Mol. Res. 8(4):
vol8-4gmr663
DOI:
10.4238/vol8-4gmr663
Plant Genetics   Research Article

Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family

Authors: C.P. Souza, E.R. Valadares, A.L.C. Trindade, V.L. Rocha, L.R. Oliveira and A.L.B. Godard

Dopa-responsive dystonia (DRD), also known as Segawa syndrome or hereditary progressive dystonia with diurnal fluctuation, is clinically characterized by the occurrence of simultaneous or late Parkinsonism and by an excellent response to treatment with low doses of L-dopa. Diagnosis of DRD is essentially clinical. It is based .. Read More»

Genet. Mol. Res. 7(3):
vol7-3gmr467
DOI:
10.4238/vol7-3gmr467
Human Genetics   Research Article

Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000)

Authors: Ana L.C. Martinelli, Rui Filho, Samantha Cruz, Rendrik Franco,Marli Tavella, Marie Secaf, Leandra Ramalho, Sergio Zucoloto, Sandra Rodrigues and Marcos Zago

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 .. Read More»

Genet. Mol. Res. 4(1):
Human Genetics   Research Article

Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil

Authors: L.N.R. Alves, E.V.W. Santos, E. Stur, A.M.A. Silva Conforti and I.D. Louro

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 hig.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028189
DOI:
10.4238/gmr.15028189
Animal Genetics   Research Article

Genomic analysis of gum disease and hypertrichosis in foxes

Authors: J.-A.B.J. Clark, D. Whalen and H.D. Marshall

Since the 1940s, a proliferative gingival disease called hereditary hyperplastic gingivitis (HHG) has been described in the farmed silver fox, Vulpes vulpes (Dyrendahl and Henricson 1960). HHG displays an autosomal recessive transmission and has a pleiotropic relationship with superior fur quality in terms of length and thickn.. Read More»

Genet. Mol. Res. 15(2):
gmr.15025363
DOI:
10.4238/gmr.15025363
Human Genetics   Research Article

A low prevalence of cystic fibrosis in Uruguayans of mainly European descent

Authors: Horacio Cardoso, Beatriz Crispino, Adriana Mimbacas and Manuel Enrique Cardoso

Cystic fibrosis is the most common hereditary disease in populations of European descent, with its prevalence depending on the populations and ethnic groups studied. In contrast to Europe and North America, there is little information about this disease in Latin America. Uruguay currently has a human population of 3,000,000, w.. Read More»

Genet. Mol. Res. 3(2):

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