Mutation
Incidence of neural tube defects in Afyonkarahisar, Western Turkey
Authors: S.T. Onrat H. Seyman M. Konuk
The incidence of neural tube defects is higher in Turkey compared to that of developed countries. To prevent congenital malformations, understanding of the current status is necessary, which should be followed by public-based activities. We examined the incidence rate of neural tube defects (NTDs) in Afyonkarahisar. According .. Read More»
- Genet. Mol. Res. 8(1):
- vol8-1gmr552
- DOI:
- 10.4238/vol8-1gmr552
A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient
Authors: F. Izadi F. Mahjoubi M. Farhadi M.M. Tavakoli S. Samanian
Lipoid proteinosis (LP) is a rare autosomal recessive disorder. Classical clinical features include warty skin infiltration, papules on the eyelids, skin scarring, as well as extracutaneous abnormalities such as hoarseness of the voice, epilepsy, and neuropsychiatric abnormalities. A defect in the ECM1 gene is responsible for this disease. A 21-year-old fema.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.November.14.2
- DOI:
- 10.4238/2012.November.14.2
A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta
Authors: C. Barbirato M.G. Almeida M. Milanez V. Sipolatti M.R.G.O. Rebou�§as A.N. Akel Jr. V.R.R. Nunes A.M.S. Perrone M. Zatz I.D. Louro F. Paula
Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility and deformity, recurrent fractures, blue sclera, short stature, and dentinogenesis imperfecta. Most cases are caused by mutations in COL1A1 and COL1A2 genes. We present a novel splicing mutation in the COL1A1 gene (c.1875+1G>C) in a .. Read More»
- Genet. Mol. Res. 8(1):
- vol8-1gmr563
- DOI:
- 10.4238/vol8-1gmr563
Significance of sarcomere gene mutation in patients with dilated cardiomyopathy
Authors: Y.D. Li, Y.T. Ji, X.H. Zhou, H.L. Li, H.T. Zhang, Y. Zhang,J.X. Li, Q. Xing, J.H. Zhang, Y.F. Hong and B.P. Tang
Dilated cardiomyopathy (DCM) is a myocardial disease with a high mortality rate. Approximately 40 genes have been found to be associated with DCM to date. Non-familial DCM can also be caused by gene mutations, suggesting that genetic factors were involved in the pathogenesis of DCM; therefore genetic testing is beneficial for the early diagnosis of DCM, w.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.22.14
- DOI:
- http://dx.doi.org/10.4238/2015.September.22.14
Identification of a mutation in Hepatitis B virus surface antigen capable of evading ELISA screening
Authors: Y. Cui, T. Zhang, Y. Yan and K. Liu
Hepatitis B virus (HBV) infection can cause HBV-related cirrhosis, liver failure, and hepatocellular carcinoma. At present, a hepatitis B surface antigen (HBsAg) blood test is the primary clinical and diagnostic marker for the identification of a chronic HBV infection. In the current study, we isolated a novel HBV mutant from a chronic HBV patient, capabl.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15037582
- DOI:
- 10.4238/gmr.15037582
Evaluation of the genotoxic activity of ethanol extract and secondary metabolites isolated from Aiouea trinervis Meisn. (Lauraceae)..
Authors: Z.R. Guterres, F.R. Garcez, W.S. Garcez, L.M.G.E. Silva, A.F.G. Silva, C.U.N.B.D. Duarte and V.F. Batista-Silva
Aiouea trinervis Meisn. is a shrub that grows in the “Cerrado” (a savanna ecosystem) of Brazil. In this study, fractionation of ethanol extracts (EEs) from the leaves of A. trinervis led to the isolation of butanolides, namely isoobtusilactone A and obtusilactone A, as well as lignans, namely sesamin, methylpiperit.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.February.19.8
- DOI:
- http://dx.doi.org/10.4238/2014.February.19.8
Mitochondrial DNA haplogroups and somatic mutations are associated with lung cancer in patients from Southwest China
Authors: Y. Fang, H.Y. Yang, Y.H. Shi, J.H. Cui, L.Y. Li, Y.C. Xu and J.L. Shao
Mitochondrial DNA mutations play crucial roles in the pathogenesis and progression of human malignancies. Therefore, to determine whether maternal background or mitochondrial DNA somatic mutations were essential cofactorsin the lung cancer of Chinese patients as well, the complete mitochondrial DNA displacement loop of the primary cancerous, matched para-.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.12.6
- DOI:
- 10.4238/2015.May.12.6
BRAF overexpression is associated with BRAF V600E mutation in papillary thyroid carcinomas
Authors: R.C. da Silva, H.S.C. de Paula, C.B.Q.S. Leal, B.C.R. Cunha,E.C. de Paula, R.C.G. Alencar, A.J. Meneghini, A.M.T.C. Silva,A.P. Gontijo, I.J. Wastowski and V.A. Saddi
A common mutation in the BRAF gene, comprising the T1799A nucleotide transversion, which leads to the V600E amino acid substitution in the BRAF protein, has been observed in about 50% of papillary thyroid carcinomas (PTCs). However, BRAF protein expression has been rarely examined in such tumors. Clinical studies have shown important associations between .. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.12.9
- DOI:
- 10.4238/2015.May.12.9
Evaluation of glutathione peroxidase and superoxide dismutase enzyme polymorphisms in celiac disease patients
Authors: M. Katar, A.F. Ozugurlu, H. Ozyurt and I. Benli
Celiac disease (CD) is a multifactorial, inflammatory small bowel disorder characterized by nutrient malabsorption resulting from mucosal damage, the latter induced by cereal products like barley, oat, and wheat. Oxidative stress has previously been reported to play an important role in the pathogenesis of CD. In the present s.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.February.20.4
- DOI:
- http://dx.doi.org/10.4238/2014.February.20.4
KCNQ1 A340E impairs electrolyte homeostasis independently of the renin-angiotensin-aldosterone system in mice
Authors: Q. Pan, Y. Sang, C. Sun, G. Li and Y. Wang
KCNQ1 (KvLQT1) is the pore-forming a-subunit of the potassium channel. To uncover its role in electrolyte metabolism, we investigated the effects of KCNQ1 A340E, a loss-of-function mutant, on J343 mice. Compared with the normal controls (C57BL/6J mice) bearing the wild-type KCNQ1 gene, J343 mice bearing KCNQ1 A340E demonstrated a much higher 24-h intake o.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038802
- DOI:
- 10.4238/gmr.15038802