Mutation
Co-targeting the EGFR and PI3K/Akt pathway to overcome therapeutic resistance in head and neck squamous cell carcinoma: What about autophagy?
Authors: Hannah Zaryouh, Jinthe Van Loenhout, Marc Peeters, Jan Baptist,Vermorken, Filip Lardon, An Wouters
Recent insights in the PI3K/Akt pathway as a promising therapeutic target in combination with EGFR-targeting agents to treat head and neck squamous cell carcinoma. The Epidermal Growth Factor Receptor (EGFR) is overexpressed in the majority of Head and Neck Squamous Cell Carcinomas (HNSCC). This triggered the development of multiple anti.. Read More»
- Genet. Mol. Res. 20(6):
Mutation: A genetic change
Authors: James Watson
Mutation, an alteration in the genetic material (the genome) of a cell of a living organism or of a virus that is more or less permanent and that can be transmitted to the cell?s or the virus?s descendants. https://1xbetx.fun https://bah.. Read More»
- Genet. Mol. Res. 20(3):
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
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
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
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
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
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-M�³r, 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
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
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