Medical Genetics
Analysis of interaction between Bmhrp28 and BmPSI in sex-specific splicing of Bombyx mori Bmdsx gene
Authors: X.F. Zha, M. Zhao*, C.Y. Zhou, H.Z. Guo, P. Zhao, Z.H. Xiang and Q.Y. Xia
Bombyx mori BmHRP28 and BmPSI, which belong to the family of RNA-binding proteins, have been identified binding to the female-specific exon 4 of the sex-determining gene Bmdsx pre-mRNA. However, the relationships between BmHRP28 and BmPSI still remain unclear. In this study, we carried out yeast two-hybrid (Y.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.24.25
- DOI:
- 10.4238/2014.July.24.25
Recent progress in identification and characterization of loci associated with sex-linked congenital cataract
Authors: D.D. Zhang, J.Z. Du, J. Topolewski and X.M. Wang
Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038600
- DOI:
- 10.4238/gmr.15038600
Isolation and characterization of a novel acidic matrix protein hic22 from the nacreous layer of the freshwater mussel, Hyriopsis cumingii
Authors: X.J. Liu, C. Jin, L.M. Wu, S.J. Dong, S.M. Zeng and J.L. Li
Matrix proteins that either weakly acidic or unusually highly acidic have important roles in shell biomineralization. In this study, we have identified and characterized hic22, a weakly acidic matrix protein, from the nacreous layer of Hyriopsis cumingii. Total protein was extracted from the nacre using 5 M EDTA and hic22 was purified using a DEAE-sepharo.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038656
- DOI:
- 10.4238/gmr.15038656
Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome
Authors: P.E. Maltese, L. Venturini, E. Poplavskaya, M. Bertelli, S. Cecchin, M. Granato, S.Y. Nikulina, A. Salmina, N. Aksyutina, E. Capelli, G. Ricevuti and L. Lorusso
Chronic fatigue syndrome (CFS) is a disease that can seriously impair one’s quality of life; patients complain of excessive fatigue and myalgia following physical exertion. This disease may be associated with abnormalities in genes affecting exercise tolerance and physical performance. Adenosine monophosphate deaminase(AMPD1), carnitine palmitoyltra.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038717
- DOI:
- 10.4238/gmr.15038717
Association between the interleukin-6-174 G/C polymorphism and risk of ischemic stroke: a meta-analysis, published in Genet. Mol. Res. 14 (4):13076-13083 (2015)
Authors: Y. Ji and L.Y. Jin
Association between the interleukin-6-174 G/C polymorphism and risk of ischemic stroke: a meta-analysis” by Jin et al. (2015) with great interest. The authors searched the literature for data sources to analyze the relationship between interlerukin-6-174G/C and ischemic stroke. Their meticulousness in study selection and.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038939
- DOI:
- 10.4238/gmr.15038939
Association between the X-ray repair cross-complementing group 1 Arg194Trp polymorphism and thyroid carcinoma susceptibility: A meta-analysis
Authors: J.Z. Zhao, X.R. Tan, M. Zhao, X.C. Mao and L. Jiang
Previous case-control studies having investigated the relationship between the X-ray repair cross-complementing group 1 (XRCC1) Arg194Trp polymorphism and thyroid cancer (TC) have drawn inconsistent conclusions. The current study aimed to clarify the role of this polymorphism in susceptibility to TC. An up-to-date search of PubMed and Web of Science datab.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15037793
- DOI:
- 10.4238/gmr.15037793
Allogeneic hematopoietic stem cell transplantation in children with aplastic anemia
Authors: H.-M. Xue, H.-G. Xu, K. Huang, H.-X. Guo, Y. Li, D.-H. Zhou, S.-L. Huang, J.-P. Fang and C. Chen
The aim of this study was to prospectively investigate the efficacy and safety of fully matched allogeneic hematopoietic stem cell transplants in children with severe aplastic anemia in China. A total of twenty patients with severe aplastic anemia were enrolled in our study. Thirteen cases underwent transplantation with fully human leukocyte antigen (HLA).. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.18.15
- DOI:
- 10.4238/2015.May.18.15
Suppression of lentivirus-mediated transgenic dendritic cells in graft-versus-host disease after allogeneic bone marrow transplantation in mice
Authors: Y.J. Xu, W.R. Chen, D.P. Li, L.X. Song, J.Q. Wu, P. Zhang, Z.Y. Li and Y.H. Huang
We determined whether genetically engineered immature dendritic cells (imDCs) mediated by lentiviral vectors alleviate acute graft-versus-host disease (GVHD) after allogeneic bone marrow transplantation (allo-BMT) in mice. We introduced the mouse chemokine receptor 7 (Ccr7) gene into the bone marrow-derived imDCs of C57BL/6 mice to construct genetically e.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.25.11
- DOI:
- http://dx.doi.org/10.4238/2015.September.25.11
Clinical analysis of patients with myeloperoxidase antineutrophil cytoplasmic antibody-associated vasculitis
Authors: Z.W. Shuai, Y.F. Lv, M.M. Zhang and Z.Y. Hu
This prospective study analyzed the clinical characteristics of myeloperoxidase antineutrophil cytoplasmic antibody (MPOANCA)-associated vasculitis and explored the relationship between MPO-ANCA and clinical manifestations of the associated vasculitis in 132 p-ANCA and MPO-ANCA-positive patients (average age, 62.3 ± 14.8 years) who were initially d.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.18.22
- DOI:
- 10.4238/2015.May.18.22
Association between C1GALT1 variants and genetic susceptibility to IgA nephropathy in Uygur
Authors: W.L. Li and C. Lu
Immunoglobulin A (IgA) nephropathy (IgAN) is a common form of primary glomerulonephritis characterized by diffuse glomerular mesangial IgA1 deposition leading to mesangial proliferation and chronic glomerular inflammation. Analyses of serum IgA1 from IgAN patients revealed abnormal galactosylation of the O-linked carbohydrate moieties of IgA that may resu.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.22.3
- DOI:
- 10.4238/2015.May.22.3