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Human Genetics

Human Genetics   Research Article

Construction and functional identification of a hepatitis B virus S protein small hairpin RNA recombinant adenovirus

Authors: S. Wang, Y.Z. Liu, D.D. Qin, C.C. Zou, Y.R. Sheng A.L. Huang and H. Tang

Hepatitis B virus S protein (HBs) plays an important role in hepatocellular carcinoma progression. However, to date, no direct and effective methods exist to research the function of HBs. Here, we combined the technology of RNA interference with recombinant adenovirus, constructed a recombinant adenovirus-expressing small hair.. Read More»

Genet. Mol. Res. 13(2):
2014.February.25.4
DOI:
10.4238/2014.February.25.4
Human Genetics   Research Article

Shortening of the cell cycle and developmental interruption in a Dictyostelium discoideum cell line due to RNAi-silenced expression of allantoicase

Authors: D.M. Xue and L.S. Hou

The signaling molecules NH3 (unprotonated volatile ammonia), as well as cyclic adenosine monophosphate and differentiationinducing factor, play important roles in the multicellular development of the slime mould Dictyostelium discoideum. One of the downstream metabolic products catalyzed by allantoicase (allC) is ammonia. We o.. Read More»

Genet. Mol. Res. 11(3):
2012.July.19.11
DOI:
10.4238/2012.July.19.11
Human Genetics   Research Article

Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

Authors: C.R. Quaio, Y.K. Koda, D.R. Bertola, M. Sukalo, M. Zenker and C.A. Kim

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder resulting from loss-of-function mutations in the UBR1 gene. JBS can be easily recognized by its unique clinical presentation (including exocrine pancreatic insufficiency, hypoplasia/aplasia of the alae nasi, congenital scalp defects, sensorineural hearing .. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.9.2
DOI:
http://dx.doi.org/10.4238/2014.June.9.2
Human Genetics   Research Article

Protein transduction domain-hA20 fusion protein protects endothelial cells against high glucose-induced injury

Authors: C.L. Hou, Q. Huang, Y. Wei, W. Zhang, J.H. Mi, D.J. Ying and Z.H. Zhou

We constructed a plasmid containing a protein transduction domain (PTD) and a human A20 (hA20) gene fragment; the fusion protein was obtained by highly expressing this plasmid in the yeast Pichia pastoris GS115. The plasmid was obtained by adding 9xArg and EcoRÐ? recognition sites to the end of the primer, and 6xHis-Tag and .. Read More»

Genet. Mol. Res. 11(3):
2012.July.19.9
DOI:
10.4238/2012.July.19.9
Human Genetics   Research Article

Cytogenetic studies on meiotic chromosome behaviors in sterile Oriental x Trumpet lily

Authors: J.R. Luo, J.M. Van Tuyl, P. Arens and L.X. Niu

In order to determine the reasons for pollen sterility in lily hybrids, four diploid sterile Oriental x Trumpet (OT) lily cultivars (‘Nymph’, ‘Gluhwein’, ‘Yelloween’, and ‘Shocking’) were used to investigate the meiotic chromosome behaviors in pollen mother cells (PMCs), using genomic in situ hybridization a.. Read More»

Genet. Mol. Res. 12(4):
2013.December.13.1
DOI:
10.4238/2013.December.13.1
Human Genetics   Research Article

Autogenous radiocephalic hemodialysis access in patients with small caliber cephalic veins after expansion with a Fogarty catheter

Authors: X. Li, L.H. Fan, J.J. Liu and D.C. Xu

Autogenous arteriovenous fistula (AVF) is the first choice for hemodialysis access in renal failure with uremia. However, AVF cannot be performed in some patients due to small and narrow veins in the forearm. In this study, a Fogarty catheter was used to establish autogenous radiocephalic hemodialysis access in patients with small caliber cephalic veins, .. Read More»

Genet. Mol. Res. 13(3):
2014.February.25.3
DOI:
10.4238/2014.February.25.3
Human Genetics   Research Article

Molecular cloning and cDNA characterization of Camelus dromedarius putative cytochrome P450s 1A, 2C, and 3A

Authors: H.M. Saeed, M.S. Alanazi, M.A. Shalaby, O. Alshahrani, F.S. Ataya, A.A. Pathan and Z.A Abduljaleel

The domesticated one-humped Arabian camel, Camelus dromedarius, is one of the most important animals in the Arabian Peninsula. Most of its life, this animal is exposed to both intrinsic and extrinsic genotoxic factors that are known to cause gross metabolic alterations in many organisms. This study determined the full length c.. Read More»

Genet. Mol. Res. 13(2):
2014.March.17.1
DOI:
10.4238/2014.March.17.1
Human Genetics   Research Article

Genetic polymorphisms of the IGF-II gene intron 8 coding region and its association with growth and carcass traits in yak

Authors: Y.F. Zeng, X.Z. Ding, S.R. Cheng and S.J. Yu

Insulin-like growth factor II (IGF-II) plays a key role in mammalian growth and is involved in stimulating fetal cell division, differentiation, and metabolic regulation. IGF-II is considered a candidate gene for genetic markers of growth and carcass traits. Therefore, in this study, the associations of single nucleotide polymorphisms (SNPs) in the IGF-II.. Read More»

Genet. Mol. Res. 12(4):
2013.December.11.11
DOI:
10.4238/2013.December.11.11
Human Genetics   Research Article

Case report of isochromosome 17q in acute myeloid leukemia with myelodysplasia-related changes after treatment with a hypomethylating agent

Authors: J.C. Sousa, R.T. Germano, C.C.M. Castro, S.M.M. Magalhaes and R.F. Pinheiro

Isochromosome 17q is a relatively common karyotypic abnormality in medulloblastoma, gastric, bladder, and breast cancers. In myeloid disorders, it is observed during disease progression and evolution to acute myeloid leukemia in Philadelphia-positive chronic myeloid leukemia. It has been reported in rare cases of myelodysplast.. Read More»

Genet. Mol. Res. 11(3):
2012.August.6.8
DOI:
10.4238/2012.August.6.8
Human Genetics   Research Article

Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia

Authors: P.C. Lee, H.H. Lam, S.A. Ghani, V. Subrayan and K.H. Chua

Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun et.. Read More»

Genet. Mol. Res. 13(2):
2014.March.24.15
DOI:
10.4238/2014.March.24.15