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Human Genetics

Human Genetics   Research Article

Effect of You-Gui-Wan on endometrial angiogenesis in controlled ovarian hyperstimulation mice model

Authors: Qiao-zhi Yin, Ji-Zhong Zhang, Li-min Li�Yu-lin Li, Li Huang, Nan Ning

Purpose: To explore the mechanism of You-Gui-Wan (YGW) in improving endometrial receptivity in mouse model of controlled ovarian hyperstimulation (COH). Methods: Sixty female mice with two consecutive oestrous cycles were randomly divided into COH model group (n = 50) and normal control group (n = 10). The COH model was crea.. Read More»

Genet. Mol. Res. 16(4):
gmr16039833
DOI:
10.4238/gmr16039833
Human Genetics   Research Article

Association between polymorphisms in TLR4 gene targeted by microRNA-140 and cervical precancerous lesion in south Chinese women: a case control study

Authors: Chuican Huang , Zhongyi Li , Xingming Zhong, Yao Wang, Xingguang Ye, Lipeng Jing, Shiqi Huang, Qian Yin , Zhulin Miao, Zixing Zhou, Yang Liu, Xiaohong Ye, Yajing Han, Meiling Ou, Di Xiao , Congcong Guo, Chengli Zeng, Guang Yang, Chunxia Jing, Xiangcai Wei

Toll-like receptor 4 (TLR4), one of the key immune system effectors, plays a main role in immune recognition of cervical cancer. Micro-RNAs are involved in regulation of multiple important genes in the progression of cervical cancer. A case-control study of 592 people was conducted from Yun’an County, Yunfu City, Guangdo.. Read More»

Genet. Mol. Res. 16(4):
gmr16039831
DOI:
10.4238/gmr16039831
Human Genetics   Research Article

Improvement of Exercise Intervention on Vascular Endothelial Functions during Prediabetes Mellitus

Authors: Shaobing Wang, Zhenghong Zhang, Yiping Liu, Zhengchao Wang

Prediabetes is considered to be an at a risk state, with an annualized 5-10% conversion rate of diabetes and the similiar proportion converting back to normoglycaemia. The global incidence of prediabetes is increasing and will reach to 471 million patients in 2030. The elevation of blood sugar is a continuum and hence prediabe.. Read More»

Genet. Mol. Res. 16(4):
gmr16039830
DOI:
10.4238/gmr16039830
Human Genetics   Research Article

Alcohol metabolizing gene polymorphisms and their relationship with oral cancer risk and clinicopathological features

Authors: J.T. Takamori, M. Santos, G. T. Peterle, L. Rossi, O. A. Curioni, D. Gazito, L. L. Maia, I. D. Louro, M. M. de Oliveira, J. G. dos Santos, R. A. Moyses, P. M. Cury, T. N. Toporcov, J. L. Kanda, A. M. A. da Silva, M. B. de Carvalho

Oral cancer incidence is higher in individuals between the fifth and seventh decades of life, but some studies indicate a decreasing age trend. From the epidemiological point of view, alcohol consumption is associated with the emergence of oral cancer by interfering with mechanisms of DNA synthesis and repair. From a genetic s.. Read More»

Genet. Mol. Res. 16(4):
gmr16039829
DOI:
10.4238/gmr16039829
Human Genetics   Research Article

A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre�Chotzen syndrome

Authors: Elena Manara, Denisa Guraj, Francesca Fanelli, Paolo E Maltese, Anila Babameto-Laku, Natale Capodicasa , Sandro Michelini, Bruno Amato, Matteo Bertelli

A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syndromic form of craniosynostosis. The identified pathogenic variant in the .. Read More»

Genet. Mol. Res. 16(4):
gmr16039828
DOI:
10.4238/gmr16039828
Human Genetics   Research Article

Promotion of apoptosis in high glucose-activated hepatic stellate cells by GLP-1 receptor agonist and its potential mechanism.

Authors: Lingkang Wu, Yingchao Liu, Liangliang Shi, Bingbing Zhang, Ana Carolina Picolo Pasian and Andrei Moroz

This study aimed to investigate the stimulatory effect of glucagon-like peptide 1 (GLP-1) receptor agonist (GLP-1RA) on the apoptosis of hepatic stellate cells (HSCs) activated by high glucose, and to explore the underlying molecular mechanism with a focus on the c-Jun N-terminal kinase (JNK) and extracellular signal-related k.. Read More»

Genet. Mol. Res. 16(4):
gmr16039818
DOI:
10.4238/gmr16039818
Human Genetics   Research Article

Mitochondrial diversity in the populations of Pediculus humanus capitis across eastern south of Tehran Province, Iran

Authors: Fatemeh Ghandali, Neda Kheradpir, Siamak Yousefi Siahkalroudi

Pediculus humanus capitis is a major obligate and district ecto-parasite of human which is distributed in different parts of the world and is under several research projects for population management and molecular analysis. In this study, one hundred and seventy head lice were collected from school girls at different high scho.. Read More»

Genet. Mol. Res. 16(4):
gmr16039826
DOI:
10.4238/gmr16039826
Human Genetics   Research Article

Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

Authors: P. E. Maltese, G. Di Saverio, E. Manara, F. Fanelli, N. Capodicasa, D. Guraj, I. Shehaj, B. Amato, A. Babameto-Laku, S. Michelini , M. Bertelli

Purpose: Familial adenomatous polyposis is an inherited precancerous condition characterized by multiple colorectal polyps. This brief report describes three generations of a family with a history of colorectal cancer in which genetic testing was useful for detecting individuals at risk. Methods: A next generation sequencing c.. Read More»

Genet. Mol. Res. 16(4):
gmr16039823
DOI:
10.4238/gmr16039823
Human Genetics   Research Article

Case report of X-linked hyper-IgM syndrome with acquired toxoplasmic encephalitis

Authors: Guoyan Lu, Dan Yu

The X-linked hyper-IgM (XHIGM; HIGM1) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, low or absent serum levels of IgG, IgA and IgE, and defective T-cell function. Here we reported a case of XHIGM with acquired toxoplas.. Read More»

Genet. Mol. Res. 16(4):
gmr16039822
DOI:
10.4238/gmr16039822
Human Genetics   Research Article

Genotypes within the prolactin and growth hormone insulin-like growth factor-I pathways associated with milk production in heat stressed Holstein cattle: Genotypes and milk yield in heat stressed Holstein cows

Authors: Hern�¡ndez-Cordero, M. A. S�¡nchez-Castro, R. Zamorano- Algandar, P. Luna-Nev�¡rez, G. Rinc�³n, J. F. Medrano4, S. E. Speidel, R. M. Enns and M. G. Thomas

The association of single nucleotide polymorphisms (SNPs) within genes of the prolactin (PRL), growth hormone (GH) and insulin-like growth factor-I (IGF1) pathways with 305-day milk yield (MY305) were evaluated in heat-stressed Holstein cows. Ambient temperature and relative humidity were used to calculate a temperature-humidi.. Read More»

Genet. Mol. Res. 16(4):
gmr16039821
DOI:
10.4238/gmr16039821