Mutation
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
A novel NF1 mutation in a Chinese patient with giant caf�©-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality
Authors: H.-X. Tong M. Li Y. Zhang J. Zhu W.-Q. Lu
Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and neurofibromas. Mutations in the NF1 gene, which encodes the neurofibromin protein, have been identified as the pathogenic gene of NF1. In this study, we present a clinical and molecul.. Read More»
- Genet. Mol. Res. 11(3):
- 2012.July.10.6
- DOI:
- 10.4238/2012.July.10.6
Co-inheritance of variants/mutations in Malaysian patients with Crohn�s disease
Authors: K.H. Chua C.C. Ng I. Hilmi K.L. Goh
Crohn’s disease is a chronic, relapsing inflammatory bowel disease; it affects the mucosa and deeper layers of the digestive wall. Two Crohn’s disease patients who carried the JW1 variant and two patients who carried the SNP5 variant were investigated for other co-inherited polymorphisms that could influence Crohn’s disease development. .. Read More»
- Genet. Mol. Res. 11(3):
- 2012.August.31.9
- DOI:
- 10.4238/2012.August.31.9
Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene
Authors: M.V.D. Moraes M. Milanez B.V.P. Almada V. Sipolatti M.R.G.O. Rebou�§as V.R.R. Nunes A.N. Akel Jr. M. Zatz F.I.V. Errera I.D. Louro F. Paula
Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short stature, caused mostly by mutations in COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I collagen, respectively. A Brazilian family that showed variable exp.. Read More»
- Genet. Mol. Res. 11(3):
- 2012.September.12.7
- DOI:
- 10.4238/2012.September.12.7
Lack of mutations of G4.5 in three families from China with noncompaction of the ventricular myocardium
Authors: Q. Liu X.F. Qi F. Ye J. Yao J. Xu
To find the underlying cause of noncompaction of the ventricular myocardium (NVM), three Chinese families with probands who presented this problem were studied. After the family members were evaluated by echocardiography, the gene G4.5 (taffazin) was scanned by sequencing. Although X-linked inheritance could not be ruled out, NVM were thought to have a va.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.January.22.3
- DOI:
- 10.4238/2013.January.22.3
Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey
Authors: G.G. Ceylan, C. Ceylan and E. Ozturk
Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral b.. Read More»
- Genet. Mol. Res. 11(2):
- 2012.May.7.4
- DOI:
- 10.4238/2012.May.7.4
Absence of SH2B3 mutation in nonobese diabetic mice
Authors: Y.J. Li, X.Y. Li, X.R. Guo, Y. Li, B.F. Shen, Y.C. Shi and J.Y. Zhang
Type 1 diabetes is a chronic progressive autoimmune disease characterized by mononuclear cell infiltration, with subsequent destruction of insulin-producing β-cells. Studies have identified strong associations between type 1 diabetes and several chromosome regions, including 12q24. Association between type 1 diabetes and .. Read More»
- Genet. Mol. Res. 11(2):
- 2012.May.9.6
- DOI:
- 10.4238/2012.May.9.6
A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease
Authors: Y.W. Wang, W.T. Han, M. Jiang, C.X. Lu, X.F. Li, X. Zhang and J.X. Li
Charcot-Marie-Tooth (CMT) is a group of clinically and genetically heterogeneous inherited neuromuscular disorders. At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes. We studied a Chinese family with CMT disease in.. Read More»
- Genet. Mol. Res. 11(2):
- 2012.May.18.5
- DOI:
- 10.4238/2012.May.18.5
A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa
Authors: J. Park H. Chae M. Kim Y. Kim I.Y. Park J.C. Shin Y.M. Park
Dystrophic epidermolysis bullosa (DEB) is an inherited skin fragility disorder that presents various clinical manifestations. DEB is characterized by separation of sublamina densa tissue and abnormalities in the anchoring fibrils that result from mutations in COL7A1 and subsequent defects in type VII collagen. A 16-month-old boy was diagnosed with Hallopeau-.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.March.11.15
- DOI:
- 10.4238/2013.March.11.15
Non-parametric approach to the study of phenotypic stability
Authors: D.F. Ferreira1, S.B. Fernandes2, A.T. Bruzi3 and M.A.P. Ramalho2
The aim of this study was to undertake the theoretical derivations of non-parametric methods, which use linear regressions based on rank order, for stability analyses. These methods were extension different parametric methods used for stability analyses and the result was compared with a standard non-parametric method. Intensive computational methods (e.g.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017517
- DOI:
- 10.4238/gmr.15017517