Mutations

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome

Authors: R.E. Jim�?©nez-Arredondo, A.J.L. Brambila-Tapia, F.M. Mercado-Silva, M.T. Maga�?±a-Torres and L.E. Figuera

Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determ.. Read More»

Genet. Mol. Res. 16(2):

gmr16029405

DOI:

10.4238/gmr16029405

Ovine prion protein genotype frequencies in northwestern China

Authors: C.-L. Zhao, R. Wu, L. Liu, F.-D. Li, X.-L. Zhang, C. Wang, F. Wang, X.-L. Diao, H.-W. Guan, X. Wang and L. Zhou

Anti-scrapie breeding programs have been initiated to screen for scrapie-resistant sheep based on ovine prion protein gene (PRNP) genotypes at codons 136, 154 and 171 in many countries, especially European Union member states. However, investigation of sheep PRNP genotypes is limited in China, despite the large number of sheep.. Read More»

Genet. Mol. Res. 11(2):

dx.doi.org/2012.June.21.2

DOI:

dx.doi.org/10.4238/2012.June.21.2

TGF-�?²1 polymorphism 509 C>T is associated with an increased risk for hepatocellular carcinoma in HCV-infected patients

Authors: J. Ma, Y.C. Liu, Y. Fang, Y. Cao and Z.L. Liu

Transforming growth factor-beta 1 (TGF-β1), a member of the transforming growth factor beta family, functions as a multi-functional cytokine and plays a key role in cellular growth, proliferation, and differentiation. The 509 C/T polymorphism in the TGF-β1 gene has been implicated in the outcome of hepatitis C virus (HCV) infection; however, lit.. Read More»

Genet. Mol. Res. 14(2):

2015.May.4.3

DOI:

10.4238/2015.May.4.3

Polyploidy and epigenetic events in the evolution of Anura

Authors: M.L. Be�?§ak

This article reviews the polyploidy events that have long been demonstrated to play a role in the evolution of Anura, while also discussing the importance of epigenetic control of gene expression and diversity. Findings on Brazilian autopolyploid anurans, mainly of the genus Odontophrynus, obtained in previous studies.. Read More»

Genet. Mol. Res. 13(3):

2014.August.7.15

DOI:

10.4238/2014.August.7.15

Mutations in the FGFR2 gene in Mexican patients with Apert syndrome

Authors: A. Ibarra-Arce, G. Ortiz de Z�?¡rate-Alarc�?³n, L.G. Flores-Pe�?±a,F. Mart�?­nez-Hern�?¡ndez, M. Romero-Valdovinos and A. Olivo-D�?­az

Apert syndrome (AS) is a frequent acrocephalosyndactyly, with autosomal dominant inheritance. AS has been associated with mutations in fibroblast growth factor receptor 2 (FGFR2), and approximately 99% of cases show 2 of the frequent mutations located in exon IIIa (Ser252Trp or Pro253Arg). The purpose of the present study was to describe the mutations in .. Read More»

Genet. Mol. Res. 14(1):

2015.March.27.19

DOI:

10.4238/2015.March.27.19

Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism

Authors: S.C. Hu J. Ye A.K. Fathi X. Fu S. Huang Q. Ning X.P. Luo

We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism. These patients were recruited from the Pediatrics section of Tongj.. Read More»

Genet. Mol. Res. 11(4):

2012.October.9.6

DOI:

10.4238/2012.October.9.6

Mitochondrial DNA mutations may not be frequent in patients with aplastic anemia - Genet. Mol. Res. 11 (3): 2130-2137 â�?�?Complete sequence analysis of mitochondrial DNA of aplastic anemia patientsâ�?

Authors: J. Zhang N. Li J.-Y. Lin Q. Li J. Hai D.-W. Xu X.-L. Qian

Genet. Mol. Res. 11(4):

2012.December.21.2

DOI:

10.4238/2012.December.21.2

Mutational analysis of genes p14ARF, p15INK4b, p16INK4a, and PTEN in human nervous system tumors

Authors: L.O. Almeida, A.C. Cust�?³dio, J.J. Ara�?ºjo, J.A. Rey,J.R.W. Almeida, M.J. Santos, C.A. Clara and C. Casartelli

The cancer is one of the most common and severe problems in clinical medicine, and nervous system tumors represent about 2% of the types of cancer. The central role of the nervous system in the maintenance of vital activities and the functional consequences of the loss of neurons can explain how severe brain cancers are. The c.. Read More»

Genet. Mol. Res. 7(2):

vol7-2gmr445

DOI:

10.4238/vol7-2gmr445

Sequence variants in the bovine PRDM16 gene associated with body weight in Chinese cattle breeds

Authors: J. Wang, C. Wang, R. Tian, Y.-Z. Huang, X.-S. Lai, X.-Y. Lan, J.-Q. Wang and H. Chen

As a zinc-finger protein, PR domain containing 16 (PRDM16) controls brown fat determination by stimulating brown fat cell production while suppressing the expression of genes for production of white fat cells; mutations in this domain are associated with myelodysplastic syndrome and leukemogenesis. In our study, polymorphisms .. Read More»

Genet. Mol. Res. 11(1):

2012.March.22.5

DOI:

10.4238/2012.March.22.5

Specific and straightforward molecular investigation of �?²-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays

Authors: S.L. Kho, K.H. Chua, E. George and J.A.M.A. Tan

Beta-thalassemia is a life-threatening inherited blood disorder. Rapid characterization of β-globin gene mutations is necessary because of the high frequency of Malaysian β-thalassemia carriers. A combination real-time polymerase chain reaction genotyping assay using TaqMan probes was developed to confirm β-globin gene mutations. In this st.. Read More»

Genet. Mol. Res. 12(3):

2013.February.28.4

DOI:

10.4238/2013.February.28.4