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Human Genetics

Human Genetics   Research Article

Single nucleotide polymorphisms in Brahman steers and their association with carcass and tenderness traits

Authors: T. Smith M.G. Thomas T.D. Bidner J.C. Paschal D.E. Franke

Data from purebred Brahman steers (N = 467) were used to study the association of single nucleotide polymorphisms (SNP) with carcass traits and measures of tenderness. Fall weaned calves were grazed and fed in a subtropical environment and then harvested for processing in a commercial facility. Carcass data were recorded 24 h .. Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr537
DOI:
10.4238/vol8-1gmr537
Human Genetics   Research Article

Hypertension-mediated enhancement of JNK activation in association with endoplasmic reticulum stress in rat model hippocampus with cerebral ischemia-reperfusion

Authors: Y.N. Zhao, J.M. Li, C.X. Chen, P. Zhang and S.X. Li

Acute brain ischemia can induce the activation of c-Jun N-terminal kinases (JNKs). Hypertension is a critical etiology for brain ischemia. We identified the effects of hypertension on the activation of JNK as well as its impact on SP600125, a JNK inhibitor, during endoplasmic reticulum stress (ERS) in the hippocampus using a rat model. Transient whole-brain .. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.21.10
DOI:
http://dx.doi.org/10.4238/2015.September.21.10
Human Genetics   Research Article

Evaluation of cancer records from 2000-2004 in Denizli, Turkey

Authors: A. K�¶ksal H.��. Sorkun H. Demirhan A.G. Tomatir T. Alan F. ��zerdem

Objective information about cancer incidence is important for planning control programs. We examined the distribution of cancer cases recorded in Denizli province, Turkey. A total of 2185 cancer cases reported to the Denizli Province Health Ministry’s Cancer Early Diagnosis Center during the years 2000-2004 were evaluate.. Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr533
DOI:
10.4238/vol8-1gmr533
Human Genetics   Research Article

LEPR p.Q223R, �²3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects

Authors: Duarte SFP, Francischetti EA, Genelhu VA, Cabello PH and Pimentel MMG

Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor β3 (β3-AR), leptin (LEP) and leptin receptor (LEPR) genes have been intensively evaluated in the search of variants that could be related to obesity and its cardiometabolic complicat.. Read More»

Genet. Mol. Res. 6(4):
Human Genetics   Research Article

COL1A1 gene -1997G/T polymorphism and risk of osteoporosis in postmenopausal women: a meta-analysis

Authors: K.H. Yu, J. Tang, C.Q. Dai, Y. Yu and J.J. Hong

Studies investigating the association between the COL1A1 gene -1997G/T polymorphism and the risk of osteoporosis in postmenopausal women have reported conflicting results. We performed a meta-analysis based on the evidence currently available from the literature to make a more precise estimation of this relationship. We conducted searches of the published.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.21.11
DOI:
http://dx.doi.org/10.4238/2015.September.21.11
Human Genetics   Research Article

Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome

Authors: Y. Yang1,2,3*, F. Zhao1,2,3*, X. Tu4 and Z. Yu1,2,3

Mutations in the Wilms’ tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroid-resistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroid-resistant .. Read More»

Genet. Mol. Res. 15(1):
gmr.15017559
DOI:
10.4238/gmr.15017559
Human Genetics   Research Article

Chromosome heteromorphisms are more frequent in couples with recurrent abortions

Authors: H. Akbas H. �°si D. Oral A. Turky�±lmaz S. Kalkanl�±-Ta�� S. Simsek M. Balkan M.N. Sakar M. Fidanboy M.N. Alp T. Budak

Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluat.. Read More»

Genet. Mol. Res. 11(4):
2012.November.12.1
DOI:
10.4238/2012.November.12.1
Human Genetics   Research Article

Prognostic significance of long non-coding RNA MALAT-1 in various human carcinomas: a meta-analysis

Authors: J. Wang1*, A.M. Xu1*, J.Y. Zhang1*, X.M. He2, Y.S. Pan1, G. Cheng1, C. Qin1,L.X. Hua1 and Z.J. Wang1

The long non-coding RNA MALAT-1 plays an important role in cancer prognosis. The present research aimed to elucidate its precise predictive value in various human carcinomas. A quantitative meta-analysis was performed by searching PubMed, Embase, Web of Science, and Cochrane Library (most recently, January 2015) databases, and extracting data from studies.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017433
DOI:
10.4238/gmr.15017433
Human Genetics   Research Article

Mutation analysis of gene PAX6 in human gliomas

Authors: Pinto GR,Clara CA, Santos MJ, Almeida JRW, Burbano RR, Rey JA and Casartelli C

Gliomas are the most common tumors of the central nervous system. In spite of the marked advances in the characterization of the molecular pathogenesis of gliomas, these tumors remain incurable and, in most of the cases, resistant to treatments, due to their molecular heterogeneity. Gene PAX6, which encodes a transcription fac.. Read More»

Genet. Mol. Res. 6(4):
Human Genetics   Research Article

Lack of an association between the XRCC1 Arg399Gln polymorphism and gastric cancer based on a meta-analysis

Authors: Lack of an association between the XRCC1 Arg399Gln polymorphism and gastric cancer based on a meta-analysis

Association between the XRCC1 Arg399Gln polymorphism and susceptibility to gastric cancer has been investigated; overall, the results have been inconclusive. We made a meta-analysis of 13 case-control studies, including 3278 cases and 6243 controls. Crude odds ratios (OR) with 95% confidence intervals (95%CI) were used to assess this possible association. We.. Read More»

Genet. Mol. Res. 11(4):
2012.November.12.2
DOI:
10.4238/2012.November.12.2