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Human Genetics   Research Article

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
Cytogenomics   Research Article

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. Rebouças 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
Medical Genetics   Research Article

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
Human Genetics   Research Article

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
Animal Genetics   Research Article

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
Human Genetics   Research Article

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
Microbial Genetics   Research Article

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
Plant Genetics   Research Article

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
Animal Genetics   Research Article

Differential expression of the lethal gene Luteus-Pa in cacao of the Parinari series

Authors: B.C. Rehem1, A.-A.F. Almeida1, G.S.F. Figueiredo1, A.S. Gesteira2, S.C. Santos1, R.X. Corrêa1, M.M. Yamada3 and R.R. Valle3

The recessive lethal character Luteus-Pa is found in cacao (Theobroma cacao) genotypes of the Parinari series (Pa) and is characterized by expression of leaf chlorosis and seedling death. Several genotypes of the Pa series are bearers of the gene responsible for the expression of the Luteus-Pa character, which can be used as a tool for determining relatio.. Read More»

Genet. Mol. Res. 15(1):
gmr.15014925
DOI:
10.4238/gmr.15014925
Human Genetics   Research Article

A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I

Authors: N. Wanlapakorn, P. Nilyanimit, T. Vorawandthanachai, T. Deesudjit, N. Dumrongpisutikul and Y. Poovorawan

Human uridine 5'-diphosphate-glucuronosyltransferases play a critical role in detoxification by conjugating bilirubin with glucoronic acid. Impaired or reduced enzymatic activity causes a spectrum of clinical disorders such as Crigler-Najjar syndrome type I (CN1), Crigler-Najjar syndrome type II, and Gilbert’s syndrome. CN1 is a severe form of u.. Read More»

Genet. Mol. Res. 14(1):
2015.January.23.15
DOI:
10.4238/2015.January.23.15