Mutation

Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism

Authors: S.C. Hu J. Ye A.K. Fathi X. Fu S. Huang Q. Ning X.P. Luo

We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism. These patients were recruited from the Pediatrics section of Tongj.. Read More»

Genet. Mol. Res. 11(4):

2012.October.9.6

DOI:

10.4238/2012.October.9.6

Detecting the potential cancer association or metastasis by multi-omics data analysis

Authors: L. Hua, WY. Zheng, H. Xia and P. Zhou

Comprehensive multi-omics data analyses have become an important means for understanding cancer incidence and progression largely driven by the availability of high-throughput sequencing technologies for genomes, proteomes, and transcriptomes. However, how tumor cells from the site of origin of the cancer begin to grow in other sites of the body is very p.. Read More»

Genet. Mol. Res. 15(3):

gmr.15038987

DOI:

10.4238/gmr.15038987

Leptin (rs7799039) and solute carrier family 30 zinc transporter (rs13266634) polymorphisms in Euro-Brazilian pregnant women with gestational diabetes

Authors: A. Teleginski, M. Welter, H.R. Frigeri, R.R. R�?©a, E.M. Souza, D. Alberton, F.G.M. Rego, G. Picheth

Leptin (LEP), a protein that plays a fundamental role in the metabolism of energy reserves, and the solute carrier family 30 A8 zinc transporter (SLC30A8) have been consistently associated with diabetes. Women with gestational diabetes are at moderate risk of developing diabetes type 1 and 2 after pregnancy, in addition to com.. Read More»

Genet. Mol. Res. 16(1):

gmr16019515

DOI:

10.4238/gmr16019515

Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I

Authors: J. Villa-Morales, E. L�?³pez-Mu�?±oz, D. Ju�?¡rez-Melchor, N. Garc�?­a-Hern�?¡ndez, F. Minauro-Sanmiguel, J. Aguirre-Hern�?¡ndez, G. Guti�?©rrez-Iglesias and D.J. Arenas-Aranda

Neurofibromatosis type I is an autosomal dominant disease with complete penetrance and variable age-dependent expressivity. It is caused by heterozygous mutations in neurofibromin 1 (NF1). These occur throughout the length of the gene, with no apparenthotspots. Even though some mutations have been found repeatedly, most have been observed only once. This,.. Read More»

Genet. Mol. Res. 14(3):

2015.July.27.21

DOI:

10.4238/2015.July.27.21

Mitochondrial DNA mutations may not be frequent in patients with aplastic anemia - Genet. Mol. Res. 11 (3): 2130-2137 â�?�?Complete sequence analysis of mitochondrial DNA of aplastic anemia patientsâ�?

Authors: J. Zhang N. Li J.-Y. Lin Q. Li J. Hai D.-W. Xu X.-L. Qian

Genet. Mol. Res. 11(4):

2012.December.21.2

DOI:

10.4238/2012.December.21.2

A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Authors: M.L. Lai, L.J. Yang, X.H. Zhu and M. Li

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant cutaneous disorder, characterized by a mixture of hyperpigmented and hypopigmented macules mostly on the dorsal portions of the extremities. Pathogenic mutations have been identified in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. We stu.. Read More»

Genet. Mol. Res. 11(2):

http://dx.doi.org/2012.June.29.5

DOI:

http://dx.doi.org/10.4238/2012.June.29.5

Correlative study between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm

Authors: Z.C. Li, H.J. Fu, Z.M. Wang, S. Yang2and H.Z. Xu

In this study, we investigated the correlation between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm (MPN) using real-time fluorescence quantitative PCR. The incidence of thrombus was monitored and blood and coagulation were routinely assayed in patients with MPN. The JAK2V617F mutation was.. Read More»

Genet. Mol. Res. 15(3):

gmr.15038423

DOI:

10.4238/gmr.15038423

Mutational analysis of genes p14ARF, p15INK4b, p16INK4a, and PTEN in human nervous system tumors

Authors: L.O. Almeida, A.C. Cust�?³dio, J.J. Ara�?ºjo, J.A. Rey,J.R.W. Almeida, M.J. Santos, C.A. Clara and C. Casartelli

The cancer is one of the most common and severe problems in clinical medicine, and nervous system tumors represent about 2% of the types of cancer. The central role of the nervous system in the maintenance of vital activities and the functional consequences of the loss of neurons can explain how severe brain cancers are. The c.. Read More»

Genet. Mol. Res. 7(2):

vol7-2gmr445

DOI:

10.4238/vol7-2gmr445

Effect of mutations in a simian virus 40 PolyA signal enhancer on green fluorescent protein reporter gene expression

Authors: H.G. Wang, X.F. Wang, X.Y. Jing, Z. Li, Y. Zhang and Z.J. Lv

Our previous studies have shown that tandem Alu repeats inhibit green fluorescent protein (GFP) gene expression when inserted downstream of the GFP gene in the pEGFP-C1 vector. We found that the 22R sequence (5'-GTGAAAAAAATGCTTTATTTGT-3') from the antisense PolyA (240 bp polyadenylation signal) of simian virus 40, eliminated r.. Read More»

Genet. Mol. Res. 10(3):

vol10-3gmr1169

DOI:

10.4238/vol10-3gmr1169

ms17: a meiotic mutation causing partial male sterility in a corn silage hybrid

Authors: M.S. Pagliarini, V.F. Souza, N. Silva, C.A. Scapim, M. Rodovalho and M.V. Faria

Cytological analysis under light microscopy of the single hybrid P30R50 of silage corn revealed an abnormal pattern of microsporogenesis that affected the meiotic products. Meiosis progressed normally until diakinesis, but before migration to the metaphase plate, bivalents underwent total desynapsis and 20 univalent chromosome.. Read More»

Genet. Mol. Res. 10(3):

vol10-3gmr1037

DOI:

10.4238/vol10-3gmr1037