Human Genetics
Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis
Authors: L.-H. Yang, M.-S. Wang, F.-X. Zheng, J. Li , Y. Chen, Y.-H. Jin, H.-X. Xie, X.-L. Yang and B.-C. Chen
We investigated the alteration of coagulation state in a protein C (PC) deficiency pedigree and the impact of the PC gene mutations. The pedigree of a proband with cerebral hemorrhagic infarction had sixteen members with four generations. The plasma levels of PC activity (PC:A), protein S activity (PS:A), factor V:C and factor VIII:C, and routine coagulat.. Read More»
- Genet. Mol. Res. 13(2):
- 2014.April.16.5
- DOI:
- 10.4238/2014.April.16.5
Apoptotic effects of proteasome and histone deacetylase inhibitors in prostate cancer cell lines
Authors: I. Kiliccioglu, E. Konac, N. Varol, S. Gurocak and C. Yucel Bilen
Prostate cancer is one of the most common types of urological cancers. Despite the implementation of effective radiotherapy and chemotherapy methods, prostate cancer cells can still show resistance to treatment. In recent years, a combination of proteasome and histone deacetylase inhibitors has been used to treat various malig.. Read More»
- Genet. Mol. Res. 13(2):
- http://dx.doi.org/2014.May.9.17
- DOI:
- http://dx.doi.org/10.4238/2014.May.9.17
�±-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation leads to the A2B isoform
Authors: J.J. Lin, X.D. Wang and S.Y. Zhu
In this study, the phenotypic identification and molecular mechanism of one case of an A2B subtype pedigree was investigated. ABO blood groupings were identified by serological methods and sequence amplification was performed by polymerase chain reaction (PCR) using TA cloning and DNA sequencing analysis to identify the pedigr.. Read More»
- Genet. Mol. Res. 13(2):
- 2014.April.16.7
- DOI:
- 10.4238/2014.April.16.7
Development and characterization of novel transcriptome-derived microsatellites for genetic analysis of persimmon
Authors: C. Luo, Q.L. Zhang and Z.R. Luo
Oriental persimmon (Diospyros kaki Thunb.) (2n = 6x = 90) is a major commercial and deciduous fruit tree that is believed to have originated in China. However, rare transcriptomic and genomic information on persimmon is available. Using Roche 454 sequencing technology, the transcriptome from RNA of the flowers of D. kaki was a.. Read More»
- Genet. Mol. Res. 13(2):
- 2014.April.16.10
- DOI:
- 10.4238/2014.April.16.10
Genetic diversity of Saccharum spontaneum from geographical regions of China assessed by simple sequence repeats
Authors: L.N. Fan, H.H. Deng, Q.W. Luo, H.Y. He, Y. Li, Q.N. Wang, Z.X. Huang, J.T. Wu, Q.W. Li, S.M. Liu and Y.W. Qi
Saccharum spontaneum is the most variable wild relative of sugarcane with potential for use in sugarcane improvement programs. In order to help preserve and exploit this species, 152 accessions from eight major geographical regions in China, including Hainan, Guangdong, Guangxi, Yunnan, Sichuan, Guizhou, Fujian, and Jiangxi pr.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.November.26.1
- DOI:
- 10.4238/2013.November.26.1
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations
Authors: C.O. Pierrottet, M. Zuntini, M. Digiuni, I. Bazzanella, P. Ferri, R. Paderni, L.M. Rossetti, S. Cecchin, N. Orzalesi and M. Bertelli
Mutations in more than 60 different genes have been associated with non-syndromic and syndromic retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies. To increase the understanding of the molecular epidemiology of the disease in Italy, we analyzed 56 patients with syndromic and non-syndromic forms of RP attending the Retinitis .. Read More»
- Genet. Mol. Res. 13(4):
Genetic diversity in natural populations of Theobroma subincanum Mart. in the Brazilian Amazon
Authors: L.H. Rivas1, L.D. Giustina1, L.N. Luz2, I.V. Karsburg1, T.N.S. Pereira2 and A.A.B. Rossi1
The genus Theobroma, recently reclassified in the family Malvaceae, comprises some species with high economic potential, including the cupuí, Theobroma subincanum Mart., which has not yet been domesticated, and whose genetics and population structure are mostly unknown. This study aimed to assess the population structure and genetic diversity in na.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.October.24.12
- DOI:
- 10.4238/2013.October.24.12
Tumor-associated fibroblast-conditioned medium promotes tumor cell proliferation and angiogenesis
Authors: L.N. Xu, B.N. Xu, J. Cai, J.B. Yang, N. Lin
This study aimed to explore how tumor-associated fibroblasts (TAFs) promote the proliferation and angiogenesis of tumor cells via the paracrine mechanism in vitro. Conditioned media (CM) of ovarian TAFs and normal fibroblasts (NFs) were collected. Ovarian cancer cells (OCCs) were treated with 2 mL TAFs-CM and NFs-CM in experim.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.November.22.14
- DOI:
- 10.4238/2013.November.22.14
A novel TET2 mutation in a patient with refractory cytopenia with multilineage dysplasia
Authors: D.F. Coutinho, C. Diniz, R.L.D. Filgueiras, R.L.R. Baptista,J.P. Ayres-Silva, B.C.R. Monte-M�³r, M.H. Bonamino, I.R. Zalcberg
Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and soma.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.November.22.13
- DOI:
- 10.4238/2013.November.22.13
Single nucleotide polymorphisms in candidate genes associated with gastrointestinal nematode infection in goats
Authors: F.A. Bressani1, P.C. Tizioto2, R. Giglioti3, S.L.C. Meirelles4, R. Coutinho5, C.L. Benvenuti5, W. Malag�³-Jr.1, M.A. Mudadu1, L.S. Vieira6, L.G. Zaros5, E. Carrilho7 and L.C.A. Regitano
Cytokines are small cell-signaling proteins that play an important role in the immune system, participating in intracellular communication. Four candidate genes of the cytokine family (IL2, IL4, IL13, and IFNG) were selected to identify Single Nucleotide Polymorphisms (SNPs) that might be associated with resistance to gastrointestinal endoparasites in goa.. Read More»
- Genet. Mol. Res. 13(4):