Human Genetics
Identification of a de novo inv dup(X)(pterâ??q22) by multicolor banding in a girl with Turner syndrome
Authors: P. Bur?©gio-Frota, L. Valen?§a, G.F. Leal, A.R. Duarte, A.V.S. Bispo-Brito, E.M. Soares-Ventura, T.J. Marques-Salles, M.T.M.C. Nogueira, M.T.C. Muniz, M.L.M. Silva, F. Hunstig, T. Liehr and N. Santos
We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion .. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr777
- DOI:
- 10.4238/vol9-2gmr777
Post-surgical treatment of a patient with ectopic pheochromocytoma
Authors: C.F. Sheng, R. Wang, B.Y. Liu, H.M. Zhang, M. Fang and X. Zheng
We report here the course and treatment of a patient with ectopic pheochromocytoma. The patient was cured after treatment with respiratory and circulatory support, multiple-organ protection, and continuous renal replacement therapy (CRRT) for approximately 2 weeks. After misdiagnosis, a patient with ectopic pheochromocytoma who is being treated should und.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.20.25
- DOI:
- 10.4238/2015.March.20.25
Study of the radiotherapy sensitization effects and mechanism of capecitabine (Xeloda) against non-small-cell lung cancer cell line A549
Authors: J.J. Zhu, J.J. Shan, L.B. Sun1 and W.S. Qiu
The purpose of this study was to explore the radiotherapy sensitization effects and the mechanism of capecitabine (Xeloda) against the non-small-cell lung cancer cell line, A549. γ-[60Co] radiation was used as the intervention method. Proliferative inhibition of capecitabine on A549 cells was determined by the CCK-8 method. The effects of capecitabi.. Read More»
- Genet. Mol. Res. 14(4):
- 2015
- DOI:
- 10.4238/2015
Relationship between genetic polymorphism of MCP-1 and non-small-cell lung cancer in the Han nationality of North China
Authors: L. Yang, G.L. Shi, C.X. Song and S.F. Xu
Monocyte chemoattractant protein 1 (MCP-1) is an important chemokine that has a dose-dependent anti-tumoral effect. Polymorphism in the MCP-1 distal regulatory region (-2518A/G) can affect the level of MCP-1 expression. We examined the polymorphisms of 112 unrelated patients with non-small-cell lung cancer (NSCLC) and 82 unrel.. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr740
- DOI:
- 10.4238/vol9-2gmr740
Meta-analysis of differentially expressed genes in autism based on gene expression data
Authors: L.F. Ning, Y.Q. Yu, E.T. GuoJi, C.G. Kou, Y.H. Wu, J.P. Shi,L.Z. Ai and Q. Yu
The purpose of this study was to identify differentially expressed (DE) genes and biological processes associated with changes in gene expression in autism. We performed a meta-analysis using new publicly available Gene Expression Omnibus (GEO) datasets of autism. We performed Gene Ontology (GO) enrichment analyses and pathway analysis using the Kyoto Enc.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.27.1
- DOI:
- 10.4238/2015.March.27.1
Hypoxia-inducible factor-2?± (HIF-2?±) mediates the effects of hypoxia on the promotion of HeLa cell viability, colony formation, and invasion capacity in vitro
Authors: J. Xiong, F.F. Zhu and M.F. Nie
Hypoxia reduces the oxygen supply to tumor cells and may limit tumor cell growth. However, hypoxia promotes tumor cell metabolic adaptation, apoptosis resistance, angiogenesis, invasion, and metastasis. Hypoxia-inducible factor-2a (HIF-2a) may be responsible for these hypoxia-induced changes. In this study, we investigated the effects of hypoxia and HIF-2.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.13.7
- DOI:
- http://dx.doi.org/10.4238/2015.April.13.7
Increased human epididymis protein 4 in benign gynecological diseases complicated with chronic renal insufficiency patients
Authors: Y.W. Lv, L. Yang, M. Zhang, L.H. Jiang, J.H. Niu, J. Hou and X.H. Cui
We examined the serum concentration of human epididymis protein (HE4) in patients with benign gynecological diseases complicated with chronic renal deficiency and its significance in the differential diagnosis of benign and malignant gynecological diseases. Serum HE4 and cancer antigen 125 concentrations were detected by chemiluminescence. Clinically or p.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.27.2
- DOI:
- 10.4238/2015.March.27.2
Analysis of HLA-A, HLA-B and HLA-DRB1 alleles in Chinese patients with lung cancer
Authors: L. Yang, L.J. Wang, G.L. Shi, L. Ni, C.X. Song, Z.X. Zhang and S.F. Xu
The primary function of the human leukocyte antigen (HLA) system is to regulate the immune response. Because of its important role in the immune response and its high degree of polymorphism, the HLA system is associated with many diseases. We examined the polymorphisms of HLA-A, B and DRB1 alleles in 100 unrelated patients wit.. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr735
- DOI:
- 10.4238/vol9-2gmr735
RETRACTION of â??Methylation of the RASSFIA promoter in breast cancerâ? by Y. Ji, H.H. Jin, M.D. Wang, W.X. Cao, J.L. Bao - Genet. Mol. Res. 15 (2): gmr.15028261 (2016) - DOI: 10.4238/gmr.15028261
Authors: Y. Ji, H.H. Jin, M.D. Wang, W.X. Cao, J.L. Bao
The retracted article is: Ji Y, Jin HH, Wang MD, Cao WX, et al. (2016). Methylation of the RASSFIA promoter in breast cancer. Genet. Mol. Res. 15: gmr.15028261. There are significant parts of this article (particularly, in the discussion section) that are copied from “Methylation of HIN-1, RASSF1A, RIL and CDH13 in breas.. Read More»
- Genet. Mol. Res. 15(4):
- gmr.150482611
- DOI:
- 10.4238/gmr.150482611
Compound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2
Authors: L. Tesapirat, P. Nilyanimit, N. Wanlapakorn and Y. Poovorawan
Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome (CN), which causes non-hemolytic unconjugated hyperbilirubinemia, and is categorized as CN1 and CN2 according to the severity of bilirubin levels. The UGT1A1 gene is responsible for encoding the liver enzyme uridine diphosphate-glucuronosyltransferase, UGT1A1. This protein adds glucuronic acid to .. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.13.8
- DOI:
- http://dx.doi.org/10.4238/2015.April.13.8