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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

Animal Genetics   Research Article
Transferability of heterologous microsatellite loci between species of Euterpe genus

Authors: H.S.F.S Az�ªvedo, F.D Benvindo, L.N. Cavalcante, M. Haverroth, L.H.O. Wadt, T. Campos

Euterpe precatoria, popularly known as “açaí-do-amazonas”, has agronomic, technological and economic potential and has been gaining prominence with the commercialization of its fruits. The production of this açaí-do-amazonas is based on extractivism and management practices have been rec.. Read More»

Genet. Mol. Res. 16(4): gmr16039825

DOI: 10.4238/gmr16039825

Animal Genetics   Research Article
Epidemiological and pathological studies on the helminthic parasites in native chickens of Tabriz city, Iran

Authors: Garedaghi yagoob, Arash Khaki, Sayed Haidar Abbas Raza,Rajwali Khan, Li Hao, Seyed Mahdi Hosseini, Sherein S. Abdelgayed and Mohib Ullah Kakar

A study of intestinal helminthic parasites of domestic chickens was carried out in Tabriz city, Iran during 2016. One hundred (100) gastrointestinal samples were examined in necropsied chickens microscopically using the lactophenol and carmine-acid staining technique. The result showed a high prevalence of intestinal parasitic.. Read More»

Genet. Mol. Res. 16(4): gmr16039824

DOI: 10.4238/gmr16039824

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