Human Genetics
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
DNA methylation profile of the DKK2 gene as a biomarker in patients with colorectal cancer
Authors: T.D. Silva, A.V. Felipe, V.M. Vidigal, S.S. Saad, N.M. Forones
Purpose: Epigenetic changes can be detected in precancerous lesions, suggesting that may be involved in the early stages of carcinogenesis. The methylation of specifics genes has been correlated with the outcome of many different types of cancers. This study compared the levels of DNA methylation between normal and tumor tissu.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039816
- DOI:
- 10.4238/gmr16039816
Comparative Study of Blood-Derived Scaffolds for the Culture of Human Adipose Derived Stem Cells (ASCS) and Dermal Fibroblasts
Authors: Helga Caputo Nunes, Rosana Rossi Ferreira,Ana Carolina Picolo Pasian, Andrei Moroz, Bruno Martinucci, Michele Janegitz Acorci Valerio,S�©rgio Alexandre Alc�¢ntara dos Santos, Henrique de Souza Vieira,S�©rgio Luis Felisbino, Elenice Deffune, Fl�¡via Karina Delella
This study aimed to compare the performance of bloodderived scaffolds with a well-known and accepted scaffold, chitosan, in maintaining cell cultures of ASCs and fibroblasts for future wound healing applications. Cells were characterized, immunophenotyped and cultivated into the following scaffolds: 1) Chitosan (CH, control), .. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039807
- DOI:
- 10.4238/gmr16039807
Factor V Leiden G1691A and Prothrombin G20210A mutations are associated with repeated spontaneous miscarriage in Northern area of Saudi Arabia
Authors: Fakhr-Eldeen, A. Badawy, B. Abu AlSel and M. S. Fawzy
Maternally inherited thrombophilia could be one of the causes of recurrent spontaneous miscarriage (RSM). We aimed to investigate the frequency of three thrombotic gene variants; factor V Leiden (FVL; G1691A), prothrombin (PTH; G20210A), and methylenetetrahydrofolate reductase (MTHFR; C677T) in Saudi patients diagnosed with RS.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039810
- DOI:
- 10.4238/gmr16039810
AluYb8 insertion in the WNK1 gene is not associated with hypertension in a Russian Caucasian population
Authors: Elmira Akhmedova, Svetlana Y. Nikulina, Alla B. Salmina, Anna Chernova, Marina Bazanova, Anna Ohapkina, Aleksey Semenchukov, Paolo E. Maltese, Elena Manara and Matteo Bertelli
WNK1 (With No-lysine Kinase 1), a serine-threonine kinase, regulates blood pressure by acting on various sodium transport-related ion channels. Several studies report a link between common variants of the WNK1 gene and hypertension. No data exists on Russian populations. Our aim was to evaluate the association between the WNK1.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039809
- DOI:
- 10.4238/gmr16039809
IGF2BP2 gene polymorphism in the pathogenesis of vitiligo
Authors: Kursat Kargun, Betul Demir, Demet Cicek, Ozge Sevil Karstarli
Vitiligo is a disorder of pigmentation presenting with loss of melanocytes in the epidermis and hair follicles. The gene for insulin-like growth factor binding protein 2 (IGF2BP2) is located on the third chromosome and it plays role in growth, development, cellular differentiation, and metabolism. In the present study, we aime.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039808
- DOI:
- 10.4238/gmr16039808
miR-1 association with cell proliferation inhibition and apoptosis in vestibular schwannoma by targeting VEGFA
Authors: S.L. Li, X.H. Ma, J.F. Ji, H. Li, W. Liu, F.Z. Lu, S.T. Wu and Y. Zhang
A growing body of research has demonstrated the tumor suppressive function of microRNA (miR)-1 in many cancers. Our study aimed to investigate its role in vestibular schwannoma (VS). We examined miR-1 expression in 95 VS specimens and 79 normal vestibular nerves using quantitative real-time polymerase chain reaction. Moreover,.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048923
- DOI:
- 10.4238/gmr15048923
Allele frequencies in Azuay Population in Ecuador
Authors: P.P. Orellana, C.F. Andrade, C.L. Arciniegas and G.C. Iannacone
One hundred and eighty-two samples of unrelated people who requested the paternity test at the Molecular Biology and Genetics Laboratory of the Catholic University of Cuenca-Ecuador in the province of Azuay were studied, except for the D1S1656 (180 samples) and SE33 (89 samples) markers. The STRs D22S1045, D3S1358, VWA, D16S53.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039797
- DOI:
- 10.4238/gmr16039797
Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease
Authors: M.A. Rodrigues, L.F. Morgade, L.F.A. Dias, R.V. Moreira, P.D. Maia, A.F.H. Sales and P.D. Ribeiro
Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography sho.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039780
- DOI:
- 10.4238/gmr16039780
Assessment of the rs4340 ACE gene polymorphism in acute coronary syndrome in a Western Mexican population
Authors: A. Valdez-Haro, Y. Valle, E. Valdes-Alvarado, F. Casillas-Mu�±oz, J.F. Mu�±oz-Valle, G.L. Reynoso-Villalpando, H.E. Flores-Salinas and J.R. Padilla-Guti�©rrez
Acute coronary syndrome (ACS) is considered one of the main causes of death worldwide. Contradictory findings concerning the impact of the angiotensin-converting enzyme (ACE) gene on cardiovascular diseases have been reported. Previous conclusions point out that the variability in results depends on ethnicity and genetic polym.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039779
- DOI:
- 10.4238/gmr16039779