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Human Genetics   Research Article

Identification of Clematidis radix et Rhizoma and its adulterants by core haplotype based on the ITS sequences

Authors: Yi-Mei Zang, Ya Gao, Ying Liu, Chun-Sheng Liu

To develop a method to identify Clematidis radix et Rhizoma using sequence similarity and sequence-specific genetic polymorphisms based on the ITS sequences. DNA was extracted from leaves of Clematis mandshurica Rupr and C. hexapetala using a DNA extraction kit. ITS sequences were amplified by PCR, and analyzed in Contig Expre.. Read More»

Genet. Mol. Res. 17(2):
gmr16039905
DOI:
10.4238/gmr16039905
Medical Genetics   Research Article

A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree

Authors: X.Y. Xia, J. Yu, W.W. Li, N. Li, Q.Y. Wu , X. Zhou, Y.X. Cui and X.J. Li

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive osteochondrodysplasia characterized by disproportionately short stature and degenerative joint disease. The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe SEDT in a large Chinese pedigree. The clinical.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.April.29.15
DOI:
http://dx.doi.org/10.4238/2014.April.29.15
Human Genetics   Research Article

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Authors: Y.H. Yang1*, F. Zhao1*, D.N. Feng1, J.J. Wang1, C.F. Wang1, J. Huang1, X.J. Nie1, G.Z. Xia1, G.M. Chen1 and Z.H. Yu1,2,3

Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence.. Read More»

Genet. Mol. Res. 13(4):
2013.December.4.5
DOI:
10.4238/2013.December.4.5
Human Genetics   Research Article

Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis

Authors: L.-H. Yang, M.-S. Wang, F.-X. Zheng, J. Li , Y. Chen, Y.-H. Jin, H.-X. Xie, X.-L. Yang and B.-C. Chen

We investigated the alteration of coagulation state in a protein C (PC) deficiency pedigree and the impact of the PC gene mutations. The pedigree of a proband with cerebral hemorrhagic infarction had sixteen members with four generations. The plasma levels of PC activity (PC:A), protein S activity (PS:A), factor V:C and factor VIII:C, and routine coagulat.. Read More»

Genet. Mol. Res. 13(2):
2014.April.16.5
DOI:
10.4238/2014.April.16.5
Bioinformatics   Research Article

Efficient detection of the V600E mutation of the BRAF gene in papillary thyroid carcinoma using multiplex allele-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography

Authors: R.X. Gong1, Y.P. Gong1, J. Yang1, T. Wei1, J. Li-Ling2,3 and J.Q. Zhu1

Mutations in the V-raf murine sarcoma viral oncogene homolog B1 gene (BRAF) play an important role in the pathogenesis of papillary thyroid cancer (PTC). In this study, a BRAF V600E mutation was detected in formalin-fixed and paraffin-embedded PTC samples using multiplex allele-specific polymerase chain reaction and denaturing high-performance liquid chro.. Read More»

Genet. Mol. Res. 12(4):
2013.October.24.11
DOI:
10.4238/2013.October.24.11
Human Genetics   Research Article

A novel TET2 mutation in a patient with refractory cytopenia with multilineage dysplasia

Authors: D.F. Coutinho, C. Diniz, R.L.D. Filgueiras, R.L.R. Baptista,J.P. Ayres-Silva, B.C.R. Monte-Mór, M.H. Bonamino, I.R. Zalcberg

Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and soma.. Read More»

Genet. Mol. Res. 12(4):
2013.November.22.13
DOI:
10.4238/2013.November.22.13
Plant Genetics   Research Article

A preliminary mutation analysis of phenylketonuria in southwest Iran

Authors: N. Ajami1*, S.R. Kazeminezhad1*, A.M. Foroughmand1, M. Hasanpour1 and M. Aminzadeh2

Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. This study was designed to identify PAH mutations within exons 6, 7, and 10-12 in PKU patients from southwest Iran. Forty Iranian patients with clinical and biochemically confirmed PKU .. Read More»

Genet. Mol. Res. 12(4):
2013.October.24.7
DOI:
10.4238/2013.October.24.7
Human Genetics   Research Article

Prognostic implication of molecular aberrations in cytogenetically normal acute myeloid leukemia patients receiving allogeneic hematopoietic stem cell transplantation

Authors: Y.C. Liu1,2,3*, H.H. Hsiao1,2*, P.M. Lin4, W.C. Yang1,3, C.S. Chang1,2, T.C. Liu1,3, J.F. Hsu1, M.Y. Yang5 and S.F. Lin1,2

Different molecular aberrations can be discriminated into certain prognostic subgroups in cytogenetically normal acute myeloid leukemia (CN-AML) patients but their impact on allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains controversial and studies from Asian populations are lacking. Forty-two adult non-M3 AML patients receiving allo.. Read More»

Genet. Mol. Res. 12(4):
2013.November.11.3
DOI:
10.4238/2013.November.11.3
Microbial Genetics   Research Article

Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome

Authors: L.B. Queiroz, B.D. Lima, J.F. Mazzeu, R. Camargo, M.S. Córdoba, I.Q. Magalhães, C. Martins-de-Sá and I. Ferrari

It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations.. Read More»

Genet. Mol. Res. 12(4):
2013.October.18.1
DOI:
10.4238/2013.October.18.1
Medical Genetics   Research Article

Associations between clinical characteristics and oncogene expression in patients with non-small cell lung cancer

Authors: Y. Han, D.P. Yu, S.J. Zhou, X.Y. Song, Y.S. Li, N. Xiao, Z.D. Liu, X.J. Sun, Q.Y. Zhao and S.K. Liu.

More than 40 oncogenes associated with non-small cell lung cancer (NSCLC) have been identified with varied gene expression. The correlations between specific clinical characteristics and oncogene expression in NSCLC patients were examined. From October 2011 to September 2012, a total of 60 patients with NSCLC (male:female, 34:24; mean age, 59.5 ± 1.. Read More»

Genet. Mol. Res. 13(4):