Mutations
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):
Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients
Authors: A.I. G�?¼ney, D. Javadova, D. K�?±rac, K. Ulucan, G. Koc, D. Ergec, H. Tavukcu and T. Tarcan
Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial.. Read More»
- Genet. Mol. Res. 11(2):
- 2012.April.27.2
- DOI:
- 10.4238/2012.April.27.2
Mutational analysis of BRCA1/2 gene and pathologic characteristics from Kazakh population with sporadic breast cancer in northwestern China
Authors: S.Y. Yang, D. Aisimutula, H.F. Li, Y. Hu, X. Du, J. Li and M.X. Luan
Mutations in the BRCA1/2 genes are associated with an increased risk of breast cancer, but no large-scale research have examined the BRCA1/2 mutations in Chinese Kazakh women. We evaluated the frequency and distributions of BRCA1 and BRCA2 gene mutations in Kazakh sporadic breast cancer patients and healthy women in China. The association between the clin.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.26.11
- DOI:
- 10.4238/2015.October.26.11
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
Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene
Authors: M.V.D. Moraes M. Milanez B.V.P. Almada V. Sipolatti M.R.G.O. Rebou�?§as V.R.R. Nunes A.N. Akel Jr. M. Zatz F.I.V. Errera I.D. Louro F. Paula
Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short stature, caused mostly by mutations in COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I collagen, respectively. A Brazilian family that showed variable exp.. Read More»
- Genet. Mol. Res. 11(3):
- 2012.September.12.7
- DOI:
- 10.4238/2012.September.12.7
Lack of mutations of G4.5 in three families from China with noncompaction of the ventricular myocardium
Authors: Q. Liu X.F. Qi F. Ye J. Yao J. Xu
To find the underlying cause of noncompaction of the ventricular myocardium (NVM), three Chinese families with probands who presented this problem were studied. After the family members were evaluated by echocardiography, the gene G4.5 (taffazin) was scanned by sequencing. Although X-linked inheritance could not be ruled out, NVM were thought to have a va.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.January.22.3
- DOI:
- 10.4238/2013.January.22.3
A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I
Authors: N. Wanlapakorn, P. Nilyanimit, T. Vorawandthanachai, T. Deesudjit, N. Dumrongpisutikul and Y. Poovorawan
Human uridine 5'-diphosphate-glucuronosyltransferases play a critical role in detoxification by conjugating bilirubin with glucoronic acid. Impaired or reduced enzymatic activity causes a spectrum of clinical disorders such as Crigler-Najjar syndrome type I (CN1), Crigler-Najjar syndrome type II, and Gilbertâ�?�?�?�?s syndrome. CN1 is a severe form .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.15
- DOI:
- 10.4238/2015.January.23.15
Novel mutations in the FUCA1 gene that cause fucosidosis
Authors: W. Panmontha1, P. Amarinthnukrowh, P. Damrongphol, T. Desudchit, K. Suphapeetiporn and V. Shotelersuk
Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutation.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038733
- DOI:
- 10.4238/gmr.15038733
Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta
Authors: C. Barbirato, M. Trancozo, M.G. Almeida, L.S. Almeida, T.O. Santos, J.C.G. Duarte,M.R.G.O. Rebou�?§as, V. Sipolatti, V.R.R. Nunes, F. Paula
Osteogenesis imperfecta (OI) is a genetic disease characterized by bone deformities and fractures. Most cases are caused by autosomal dominant mutations in the type I collagen genes COL1A1 and COL1A2; however, an increasing number of recessive mutations in other genes have been reported. The LEPRE1, CRTAP, and PPIB genes encod.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.36
- DOI:
- 10.4238/2015.December.1.36
Low prevalence of glucokinase gene mutations in gestational diabetic patients with good glycemic control
Authors: H.R. Frigeri, I.C.R. Santos, R.R. R�?©a, A.C.R. Almeida, C.M.T. Fadel-Picheth, F.O. Pedrosa, E.M. Souza, F.G.M. Rego and G. Picheth
Glucokinase (GCK) plays a key role in glucose homeostasis. Gestational diabetes mellitus increases the risk of gestational complications in pregnant women and fetuses. We screened for mutations in coding and flanking regions of the GCK gene in pregnant women with or without gestational diabetes in a Brazilian population. A sam.. Read More»
- Genet. Mol. Res. 11(2):
- 2012.May.18.2
- DOI:
- 10.4238/2012.May.18.2