Human Genetics
Association between interleukin-4 polymorphisms and risk of pre-eclampsia in a population of Chinese pregnant women
Authors: J. Chen, M. Zhong and Y.H. Yu
Preeclampsia is a common disease unique to pregnant women, and its development involves many genetics l factors. IL-4 is an important regulatory factor of the Th2 cellular immune response, and plays an important role in the induction of placental growth. In this study, we investigated the relationship between IL-4 C-590T, C+33.. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029218
- DOI:
- 10.4238/gmr16029218
Polymorphism analysis of the intron one of insulin-like growth factor 2 receptor gene (IGF2R) in FFRC strain common carp (Cyprinus carpio L.) and its relationship with growth performance
Authors: Z.J. Dong, S.Y. Su, W.B. Zhu, C.F. Zhang, M. Ding, W.X. Chen, X.H. Yuan and Z. Xie
The insulin-like growth factor 2 receptor gene (IGF2R) encodes a transmembrane protein receptor and acts to sequester and degrade excess circulating insulin-like growth factor 2, which is critical for normal mammalian growth and development. Thus, IGF2R may serve as a candidate gene underlying growth trait in the common carp. In this study, we isolated th.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.14
- DOI:
- 10.4238/2015.January.23.14
Identification of significant pathway cross-talk in rheumatoid arthritis by the Monte Carlo cross-validation method
Authors: W. Song, Y.M. Zhang, T. Ma, J. Wang and K.Z. Wang
We attempted to identify significant pathway cross-talk in rheumatoid arthritis (RA) by the Monte Carlo cross-validation (MCCV) method. We therefore obtained and preprocessed the gene expression profile of RA. MCCV involves identifying differentially expressed genes (DEGs), identifying differential pathways (DPs), calculating .. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029142
- DOI:
- 10.4238/gmr16029142
A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I
Authors: N. Wanlapakorn, P. Nilyanimit, T. Vorawandthanachai, T. Deesudjit, N. Dumrongpisutikul and Y. Poovorawan
Human uridine 5'-diphosphate-glucuronosyltransferases play a critical role in detoxification by conjugating bilirubin with glucoronic acid. Impaired or reduced enzymatic activity causes a spectrum of clinical disorders such as Crigler-Najjar syndrome type I (CN1), Crigler-Najjar syndrome type II, and GilbertâÃ?Â?Ã?Â?s syndrome. CN1 is a severe form .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.15
- DOI:
- 10.4238/2015.January.23.15
A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract
Authors: X.D. Kong, N. Liu, H.R. Shi, J.M. Dong, Z.H. Zhao, J. Liu,J. Li-Ling and Y.X. Yang
Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.16
- DOI:
- 10.4238/2015.January.23.16
Role of GSTM1, GSTT1, and GSTP1 IIe105Val gene polymorphisms in the response to chemotherapy and overall survival of advanced non-small cell lung cancer
Authors: W. Jia, J.Y. Sun, K.Y. Jia and X.C. Liu
We evaluated the association between GSTM1, GSTT1, and GSTP1 IIe105Val gene polymorphisms and treatment outcomes of advanced non-small cell lung carcinoma. Between January 2010 and December 2012, a total of 244 patients with non-small cell lung carcinoma were recruited from Yiwu Central Hospital. The GSTM1, GSTT1, and GSTP1 IIe105Val gene polymorphisms we.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15037668
- DOI:
- 10.4238/gmr.15037668
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome
Authors: R. Fu, M.F. Gou, W.H. Ma, J.J. He, Y. Luan and J. Liu
Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset and progresses to end-stage renal disease. Recently, several genes associated with CNS have been identified, including NPHS1 and NPHS2. Mutations in the NPHS1 gene have been identified in patients w.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.17
- DOI:
- 10.4238/2015.January.23.17
Activin A is associated with asthma in underweight and overweight patients
Authors: L.L. Zhang and C.T. Liu
There are limited data regarding the effects of activin A on underweight, normal weight, and overweight patients with asthma. We determined serum levels of activin A in asthmatic patients in relation to body mass index. The study protocol included questionnaires, measurement of exhaled nitric oxide, blood sampling for inflammatory biomarkers, and high-res.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.18
- DOI:
- 10.4238/2015.January.23.18
Inheritance of balanced translocation t(17; 22) from a Down syndrome mother to a phenotypically normal daughter
Authors: X.Y. Liu, Y.T. Jiang, R.X. Wang, L.L. Luo, Y.H. Liu and R.Z. Liu
We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman’s husband had a normal male karyotype and was .. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.August.28.11
- DOI:
- http://dx.doi.org/10.4238/2015.August.28.11
Integrated microRNA-mRNA analysis of pancreatic ductal adenocarcinoma
Authors: P.F. Liu, W.H. Jiang, Y.T. Han, L.F. He, H.L. Zhang and H. Ren
The main aim of this study was to explore the underlying molecular mechanisms and potential target molecules of pancreatic adenocarcinoma. The miRNA (GSE32678) and mRNA (GSE32676) expression profiles of patients with pancreatic ductal adenocarcinoma and healthy controls were downloaded from the Gene Expression Omnibus database. Differentially expressed mi.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.August.28.14
- DOI:
- http://dx.doi.org/10.4238/2015.August.28.14