Now showing items 1-9 of 9
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 ...
Mutations In Cgi-58, The Gene Encoding A New Protein Of The Esterase/Lipase/Thioesterase Subfamily, In Chanarin-Dorfman Syndrome
(Cell Press, 2001)
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We ...
Mutation Analysis In Turkish Phenylketonuria Patients
(British Med Journal Publ Group, 1993)
Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: ...
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 ...
Assessing the Severity of the Small Inframe Deletion Mutation in the Alpha-Subunit of Beta-Hexosaminidase A Found in the Turkish Population By Reproducing It in the More Stable Beta-Subunit
GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of ...
Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1Q42
(Univ Chicago Press, 2000)
We have previously reported an autosomal recessive form of congenital muscular dystrophy, characterized by proximal girdle weakness, generalized muscle hypertrophy, rigidity of the spine, and contractures of the tendo ...
The Association Between Coenzyme Q10 Concentrations in Follicular Fluid with Embryo Morphokinetics and Pregnancy Rate in Assisted Reproductive Techniques
(Springer/Plenum Publishers, 2017)
This study seeks to evaluate the association between follicular fluid (FF) coenzyme Q10 (CoQ10) levels, embryo morphokinetics, and pregnancy rate. Sixty infertile patients who underwent intracytoplasmic sperm injection ...
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)
The Cell as a Membranous Network Under Microscope
(Univ Tokyo Cytologia, 1980)