Human Genetics
Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China
Authors: Y.P. Liao, D. Zhang, W. Zhou, F.M. Meng, M.S. Bao, P. Xiang and C.Q. Liu
We examined whether polymorphisms in the methylenetetrahydrofolate dehydrogenase (MTHFD) and transcobalamin (TC) genes, which are involved in folate metabolism, affect maternal risk for Down syndrome. We investigated 76 Down syndrome mothers and 115 control mothers from Bengbu, China. Genomic DNA was isolated from the peripher.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.March.17.4
- DOI:
- http://dx.doi.org/10.4238/2014.March.17.4
Epigenetic mechanism of maternal post-traumatic stress disorder in delayed rat offspring development: dysregulation of methylation and gene expression
Authors: X.G. Zhang, H. Zhang, X.L. Liang, Q. Liu, H.Y. Wang, B. Cao, J. Cao, S. Liu, Y.J. Long, W.Y. Xie and D.Z. Peng
Maternal post-traumatic stress disorder (PTSD) increases the risk of adverse neurodevelopmental outcomes in the child. Epigenetic alternations may play an essential role in the negative effects of PTSD. This study was aimed to investigate the possible epigenetic alterations of maternal PTSD, which underpins the developmental and behavioral impact. 24 preg.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15039009
- DOI:
- 10.4238/gmr.15039009
Defective eyelid leading edge cell migration in C57BL/6-corneal opacity mice with an â??eye open at birthâ? phenotype
Authors: L.C. Wu, C. Liu, M.R. Jiang ,Y.M. Jiang, Q.H. Wang, Z.Y. Lu, S.J. Wang, W.L. Yang and Y.X. Shao
Development of the eyelid requires coordination of the cellular processes involved in proliferation, cell size alteration, migration, and cell death. C57BL/6J-corneal opacity (B6-Co) mice are mutant mice generated by the administration of N-ethyl-N-nitrosourea (100 mg/kg). They exhibit the eyelids open at birth phenotype, abnormal round cell shape from ti.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15036741
- DOI:
- 10.4238/gmr.15036741
Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudinal ligament of the cervical spine in Chinese patients
Authors: W. Wei1, H.-L. He, C.-Y. Chen, Y. Zhao, H.L. Jiang, W.-T. Liu, Z.F. Du, X.-L. Chen, S.Y. Shi, and X.N. Zhang
Ossification of the posterior longitudinal ligament (OPLL) of the cervical spine is a complex multifactorial disease. Patients with OPLL commonly present with symptoms in their 40s or 50s. The genetic basis of OPLL remains poorly understood. Exome capture combined with massively parallel DNA sequencing has been proposed as an .. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.March.17.7
- DOI:
- http://dx.doi.org/10.4238/2014.March.17.7
Interleukin-8 expression associated with canine mammary tumors
Authors: D.A.P.C. Zuccari, R. Castro, G.B. Gelaleti and U.M. Mancini
The use of prognostic markers for mammary cancer is important for routine diagnosis and research. Interleukin-8 (IL-8) is a chemotactic cytokine, produced by several cell types in response to inflammation. The expression, regulation and function of IL-8 in dogs are little known. Recent studies have associated angiogenesis and .. Read More»
- Genet. Mol. Res. 10(3):
- vol10-3gmr1145
- DOI:
- 10.4238/vol10-3gmr1145
Micronuclei as biomarkers for evaluating the risk of malignant transformation in the uterine cervix
Authors: G.M.A. Aires, J.R.C. Meireles, P.C. Oliveira, J.L. Oliveira, E.L. Ara?ºjo, B.C. Pires, E.S.A. Cruz, N.F. Jesus, C.A.B. Pereira and E.M.M. Cerqueira
We evaluated micronucleus and apoptosis occurrence among women with normal smears and women with different kinds of cervical abnormalities, i.e., inflammatory processes and low- and high-grade squamous intraepithelial lesions (N = 12, N = 10 and N = 27, respectively). The sample included 59 women who were seen at a public medi.. Read More»
- Genet. Mol. Res. 10(3):
- vol10-3gmr1156
- DOI:
- 10.4238/vol10-3gmr1156
A new single-nucleotide mutation (rs362719) of the reelin (RELN) gene associated with schizophrenia in female Chinese Han
Authors: W.J. Kuang, R.F. Sun, Y.S. Zhu and S.B. Li
Reelin is an extracellular signaling protein that plays an important role in the development of the central nervous system. Post-mortem studies have shown lower reelin protein levels in the brains of patients with schizophrenia and bipolar disorder compared with controls. Genetic studies have also shown that mutations in the r.. Read More»
- Genet. Mol. Res. 10(3):
- vol10-3gmr1343
- DOI:
- 10.4238/vol10-3gmr1343
Long survival in a 69,XXX triploid infant in Greece
Authors: Dimitrios Iliopoulos, Georgia Vassiliou, Eleni Sekerli, Vasiliki Sidiropoulou, Alexandra Tsiga, Despina Dimopoulou and Nikolaos Voyiatzis
The live birth of a triploidy infant is a very rare event and death usually occurs within the first hours of life. Triploid cases with a survival of more than two months are infrequent. We report on an infant with a 69,XXX chromosome constitution who survived 164 days. Chromosomal analysis demonstrated a 69,XXX karyotype with .. Read More»
- Genet. Mol. Res. 4(4):
A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome
Authors: Mylene Neves Rocha, Murilo Rezende Melo, Carlos Alberto Longui, Daniela Vilari?§o Alves de Oliveira, Carolina Costa Figueiredo and Paulo Roberto Pacchi
Turner syndrome (TS) is one of the most common human chromosomal abnormalities; it is characterized by the presence of one normal X chromosome and the complete or partial loss of the second X chromosome. The early recognition of TS patients allows for adequate therapy for short stature and pubertal sex steroid substitution. We.. Read More»
- Genet. Mol. Res. 4(4):
Association of the IL-6 -174G/C gene polymorphism with knee osteoarthritis in a Thai population
Authors: S. Honsawek, B. Deepaisarnsakul, A. Tanavalee, P. Yuktanandana, P. Bumrungpanichthaworn, S. Malila and N. Saetan
Osteoarthritis is a chronic progressive degenerative joint disease characterized by age-related regressive change in articular cartilage. A single nucleotide polymorphism has been described at position -174 of the interleukin-6 (IL-6) promoter region, leading to three possible genotypes, GG, GC, and CC. We investigated a possi.. Read More»
- Genet. Mol. Res. 10(3):
- vol10-3gmr1161
- DOI:
- 10.4238/vol10-3gmr1161