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Animal Genetics   Research Article

RUNX2 mutations in cleidocranial dysplasia

Authors: K.-E. Lee1, F. Seymen2, J. Ko1, M. Yildirim2, E.B. Tuna2, K. Gencay2 and J.-W. Kim1,3

The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavic.. Read More»

Genet. Mol. Res. 12(4):
2013.October.15.5
DOI:
10.4238/2013.October.15.5
Human Genetics   Research Article

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

Authors: A.G. Zamani, A. Acar and M.S. Yildirim

The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics ce.. Read More»

Genet. Mol. Res. 12(4):
2013.October.29.9
DOI:
10.4238/2013.October.29.9
Medical Genetics   Research Article

Polymorphism of SREBP1 is associated with beef fatty acid composition in Simmental bulls

Authors: L. Xu*, L.P. Zhang*, Z.R. Yuan, L.P. Guo, M. Zhu, X. Gao, H.J. Gao, J.Y. Li and S.Z. Xu

The sterol regulatory element binding factor 1 gene (SREBP1) plays an important role in the biosynthesis of fatty acids and cholesterol, and in lipid metabolism. The objective of this study was to investigate the effect of genetic polymorphisms of SREBP1 on the fatty acid composition of muscle and carcass traits in Simmental bulls and Snow Dragon black ca.. Read More»

Genet. Mol. Res. 12(4):
2013.November.22.7
DOI:
10.4238/2013.November.22.7
Human Genetics   Research Article

Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia

Authors: P.C. Lee, H.H. Lam, S.A. Ghani, V. Subrayan and K.H. Chua

Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun et.. Read More»

Genet. Mol. Res. 13(2):
2014.March.24.15
DOI:
10.4238/2014.March.24.15
Plant Genetics   Research Article

Complete sequence analysis of mitochondrial DNA of aplastic anemia patients

Authors: X. Cui, F. Liu, J.Q. Wang, W.J. Zhang, J.Y. Wang, K. Liu, S.Y. Cui, J. Zhang and R.R. Xu

This study was primarily undertaken to test the hypothesis that mitochondrial DNA (mtDNA) mutations may be associated with aplastic anemia (AA). We analyzed mtDNA sequences from 15 patients with AA. The samples were obtained from bone marrow, and patients’ oral epithelial cells were collected for normal tissue comparison. Total DNA was amplified by .. Read More»

Genet. Mol. Res. 11(3):
2012.August.6.16
DOI:
10.4238/2012.August.6.16
Medical Genetics   Research Article

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

Authors: M. Li, J.Y. Liang, Z.H. Sun, H. Zhang and Z.R. Yao

Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is a rare autosomal recessive disorder characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, and mental retardation. It is caused by mutations in the gene coding for neurotrophic tyrosine kinase receptor type 1 (NTRK1; MIM# 191315). We screened .. Read More»

Genet. Mol. Res. 11(3):
2012.May.18.8
DOI:
10.4238/2012.May.18.8
Human Genetics   Research Article

Study of PIK3CA, BRAF, and KRAS mutations in breast carcinomas among Chinese women in Qinghai

Authors: Y.L. Wang, X. Dai, Y.D. Li, R.X. Cheng, B. Deng, X.X. Geng and H.J. Zhang

Phosphatidylinositol-3-OH kinase and RAS-activated signaling pathways play an important role in tumor formation. Abnormalities in relevant genes play essential roles in the occurrence and development of many human cancers. Studies of breast cancer have mainly focused on the women in western countries, but few studies have exam.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.49
DOI:
10.4238/2015.November.18.49
Plant Genetics   Research Article

In vitro induction of tetraploid garlic with trifluralin

Authors: Z.-H. Cheng, X.-J. Zhou, M.A. Khan, L. Su and H.-W. Meng

Garlic (Allium sativum) is propagated asexually. Since sexual cross breeding is almost impossible, means for effective breeding are not currently available and the available production cultivars are seriously aged and degenerated. A possible alternative for breeding is chemical induction. Trifluralin, a type of herbicide, has been reported to provoke chro.. Read More»

Genet. Mol. Res. 11(3):
2012.July.10.13
DOI:
10.4238/2012.July.10.13
Human Genetics   Research Article

Analysis of the BRAF V600E mutation in primary cutaneous melanoma

Authors: J.S.S. Inumaru1, K.I.F. Gordo, A.C. Fraga Junior, A.M.T.C. Silva, C.B.Q.S. Leal, F.M. Ayres, I.J. Wastowski, N.F. Borges and V.A. Saddi

BRAF V600E is the most common mutation in cutaneous melanomas, and has been described in 30-72% of such cases. This mutation results in the substitution of valine for glutamic acid at position 600 of the BRAF protein, which consequently becomes constitutively activated. The present study investigated the BRAF V600E mutation fr.. Read More»

Genet. Mol. Res. 13(2):
2014.January.22.8
DOI:
10.4238/2014.January.22.8
Animal Genetics   Research Article

A new single nucleotide polymorphism in the ryanodine gene of chicken skeletal muscle

Authors: A.A. Droval, E. Binneck, S.R.R. Marin, F.G. PaiĆ£o1, A. Oba, A.L. Nepomuceno and M. Shimokomaki

Some genes affect meat quality in chickens. We looked for polymorphisms in the Gallus gallus α-RyR gene (homologous to RyR 1) that could be associated with PSE (pale, soft and exudative) meat. Because RyR genes are over 100,000 bp long and code for proteins with about 5000 amino acids, primers were designed to amplify a .. Read More»

Genet. Mol. Res. 11(2):
2012.April.3.4
DOI:
10.4238/2012.April.3.4