Now showing items 1-10 of 52
Four Novel Thymidine Phosphorylase Gene Mutations In Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (Mngie) Patients
(Nature Publishing Group, 2003)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish IVINGIE patients ...
In Vitro Effects Of Phenytoin And Dapt On Mda-Mb-231 Breast Cancer Cells
(Oxford Univ Press, 2015)
Voltage-gated sodium channel (VGSC) activity enhances cell behaviors related to metastasis, such as motility, invasion, and oncogene expression. Neonatal alternative splice form of Nav1.5 isoform is expressed in metastatic ...
Alx4 Dysfunction Disrupts Craniofacial and Epidermal Development
(Oxford Univ Press, 2009)
Genetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive ...
Metalloprotease-Mediated Cleavage Of Plexind1 And Its Sequestration To Actin Rods In The Motoneuron Disease Spinal Muscular Atrophy (Sma)
(Oxford Univ Press, 2017)
Cytoskeletal rearrangement during axon growth is mediated by guidance receptors and their ligands which act either as repellent, attractant or both. Regulation of the actin cytoskeleton is disturbed in Spinal Muscular ...
Cpg Methylation In The Fhit Regulatory Region: Relation To Fhit Expression In Murine Tumors
(Nature Publishing Group, 2004)
To determine if: (1) 5' CpG island methylation is related to Fhit inactivation; (2) there are tumor or carcinogen-specific methylation patterns, we examined 35 CpG sites in the promoter, exon and intron 1 of the mouse Fhit ...
Single-Nucleotide Polymorphisms On The Ryd5 Gene In Nasal Polyposis
(Mary Ann Liebert, Inc, 2015)
Nasal polyposis (NP) is a chronic inflammatory disease. Several genes play major roles in the pathophysiology of the disease. We analyzed RYD5 gene polymorphisms to determine the effect of these variants or their genetic ...
Worldwide Distribution And Broader Clinical Spectrum Of Muscle-Eye-Brain Disease
(Oxford Univ Press, 2003)
Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps ...
Targeting Novel Antigens in the Arterial Wall in Thromboangiitis Obliterans
(Via Medica, 2010)
Thromboangiitis obliterans is an inflammatory disease possibly resulting from cigarette smoking as a primary etiologic factor, perhaps as a delayed type of hypersensitivity or toxic angiitis. As little is known about the ...
Targeting Critical Steps of Cancer Metastasis and Recurrence Using Telomerase Template Antagonists
(Elsevier Science Bv, 2009)
Metastasis, tumor relapse, and drug resistance remain major obstacles in the treatment of cancer. Therefore, more research on the mechanisms of these processes in disease is warranted for improved treatment options. Recent ...
Comparison Of Hcmv Ie And Ef-1 Alpha Promoters For The Stable Expression Of Beta-Subunit Of Hexosaminidase In Cho Cell Lines
(Springer/Plenum Publishers, 2006)