Variant
Predominance of the A allele but no association of the KCNJ11 rs5219 E23K polymorphism with Type 2 Diabetes in a Nigerian population
Authors: Godwill Azeh Engwa, Friday Nweke Nwalo, Chosen E. Obi, Christie Onyia, Opeolu Oyejide Ojo Wilfred Fon Mbacham, Benjamin Ewa Ubi
Though the rs5219 E23K variant of the KCNJ11 gene is commonly known to be associated with Type 2 diabetes (T2D) in Caucasian and Asian populations, little or none of such findings have been revealed in Nigeria. Hence, this study was aimed to assess the relationship between E23K polymorphic variant of the KCNJ11 gene and T2D in.. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039889
- DOI:
- 10.4238/gmr16039889
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
N-terminal functional region of the invariant chain efficiently targets the binding of a CTL epitope to MHC class I molecules during cross-presentation
Authors: C. Wu, D.G. Zhang, F.F. Chen, X.L. Liu, S.J. Liu and W.Y. Yu
Cross-presentation (CP) is important for priming T cell responses to many viral, bacterial, and tumor antigens. Here, we designed two Ii mutants, based on evidence that the invariant chain (Ii, also named CD74) binds newly synthesized MHC class I molecules with the class II-associated invariant chain peptide (CLIP) region of I.. Read More»
- Genet. Mol. Res. 13(2):
- 2014.April.3.16
- DOI:
- 10.4238/2014.April.3.16
Molecular cloning and site-directed mutagenesis of leucine-based sorting motifs of the porcine invariant chain
Authors: F.Z. Xu, Y. Dai, L.M. Li, X.L. Ding and W.Y. Yu
Invariant chain (Ii) is a transmembrane protein that associates with MHC class II molecules in the endoplasmic reticulum. The cytoplasmic tail of Ii contains two leucine residues able to direct Ii to the endocytic pathway. We obtained the pig Ii gene by RT-PCR. Mutated Ii was prepared via site directed mutagenesis by the PCR Megaprimer method to study the.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.January.4.10
- DOI:
- 10.4238/2013.January.4.10
Co-inheritance of variants/mutations in Malaysian patients with Crohn�s disease
Authors: K.H. Chua C.C. Ng I. Hilmi K.L. Goh
Crohn’s disease is a chronic, relapsing inflammatory bowel disease; it affects the mucosa and deeper layers of the digestive wall. Two Crohn’s disease patients who carried the JW1 variant and two patients who carried the SNP5 variant were investigated for other co-inherited polymorphisms that could influence Crohn’s disease development. .. Read More»
- Genet. Mol. Res. 11(3):
- 2012.August.31.9
- DOI:
- 10.4238/2012.August.31.9
Intracellular localization and association of MHC class I with porcine invariant chain
Authors: F.Z. Xu S.G. Wu W.Y. Yu
The objective was to investigate the intracellular localization and association of pig major histocompatibility complex (MHC) class I subunits with invariant chain (Ii). Pig MHC class I subunit cDNAs were cloned by RT-PCR and eukaryotic expression plasmids of Ã?± and Ã?²2m were constructed with fusions to red or enhanced green fluorescent protein (pDsRed2-.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.March.11.17
- DOI:
- 10.4238/2013.March.11.17
Association analysis between the OPG g.27667T>A genetic variant and bone mineral density in Chinese postmenopausal women
Authors: J.J. Zhao, D.H. Feng, L. Cheng, T. Lu and L. Wang
The purpose of this study was to investigate the association of the g.27667T>A genetic variant in the osteoprotegerin (OPG) gene with bone mineral density (BMD) and osteoporosis. A total of 393 primary osteoporosis subjects and 402 healthy controls were recruited. The BMD of the femoral neck hip, lumbar spine (L2-4.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.March.24.16
- DOI:
- 10.4238/2014.March.24.16
A molecular study on the evolution of a subtype B variant frequently found in Brazil
Authors: M.E. Pinto1, C.G. Schrago1, A.B. Miranda2 and C.A.M. Russo1
In spite of the remarkable diversity of HIV-1 env genes, several amino acids are extremely conserved, probably due to functional constraints. One example is the proline found at the second position of the GPGR motif. Several viruses, however, bear substitutions at this site, for instance, GWGR subtype B variant. GWGR viruses are described in Brazil since .. Read More»
- Genet. Mol. Res. 7(4):
- vol7-4gmr383
- DOI:
- 10.4238/vol7-4gmr383
A novel technique for analyzing the similarity and dissimilarity of DNA sequences
Authors: Y.W. Liu and Y. Peng
li,j denotes the distance between the point (xi, yi) and the point (xj, yi) in graphical representation. By classifying li,j, i, j = 1, 2,…, N according to the number of points between (xi, yi) and (xj, yi), N - 1 types are obtained. The average and variance of every type are assembled by the novel invariant v = (a1, d1, a2, d2,…, aN, dN). C.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.28.2
- DOI:
- 10.4238/2014.January.28.2
Early diagnosis of a Mexican variant of Papaya meleira virus (PMeV-Mx) by RT-PCR
Authors: E. Zamudio-Moreno, J.H. Ramirez-Prado, O.A. Moreno-Valenzuela and L.A. Lopez-Ochoa
Papaya meleira disease was identified in Brazil in the 1980s. The disease is caused by a double-stranded RNA virus known as Papaya meleira virus (PMeV), which has also been recently reported in Mexico. However, previously reported PMeV primers failed to diagnose the Mexican form of the disease. A genomic approach was used to identify sequences of the Mexi.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.February.6.18
- DOI:
- 10.4238/2015.February.6.18