Konu "Mutations" için Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed listeleme
Toplam kayıt 14, listelenen: 1-14
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Autosomal Recessive Parkinson's Disease with Early-Onset in a Turkish Family
(Gazi Univ, Fac Med, 2019)Parkinson disease is a progressive, neurodegenerative disease with an increasing incidence of age. It is thought that genetic factors in etiology may be the underlying cause together with environmental factors. Sporadic ... -
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
(Elsevier Science Bv, 2017)Objective: Pantothenate kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase 2 (PANK2) gene. The major clinical sign of PKAN is dystonia and the eye-of-the-tiger pattern on the MRI ... -
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis
(Wiley-V C H Verlag Gmbh, 2012)Purpose Sodium dodecyl sulphate-polyacrylamide gel electrophoresis (1DE) may reveal qualitative or quantitative defects in red blood cell (RBC) membrane proteins, two-dimensional gel electrophoresis (2DE) can be used for ... -
Development of Cutaneous Toxicities During Selective Anti-BRAF Therapies: Preventive Role of Combination with MEK Inhibitors
(Acta Dermato-Venereologica, 2017)[No Abstract Available] -
Ebstein's anomaly associated with biventricular noncompaction
(Springer Japan Kk, 2021)[No Abstract Available] -
Evaluation of Variation on Myostatin (MSTN) Gene of Turkish Donkey Populations in Thrace Region of Turkey
(Univ Namik Kemal, 2022)The study aimed to determine the MSTN gene variation in 90 donkeys reared in the Thrace region of Turkey. Myostatin (MSTN), also named GDF-8 (growth differentiation factor 8) is a part of the transforming growth factor ... -
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
(Cell Press, 2015)Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ... -
In Silico Analysis of the Structural and Functional Consequences of Polymorphic Amino Acid Substitutions in the Cattle HSF1 Protein
(Kafkas Univ, Veteriner Fakultesi Dergisi, 2022)Heat stress causes a decrease in the productivity of livestock by negatively affecting some important economic features such as fertility, growth and milk production. The heat shock transcription factor 1 (HSF1) gene plays ... -
Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?
(Funpec-Editora, 2016)The D727E germline polymorphism in the thyroid-stimulating hormone receptor gene (TSHR) may cause genetic susceptibility to the development of goiter. Therefore, in this study we investigated allele frequencies and genotype ... -
The Mitochondrial DNA Control Region Might Have Useful Diagnostic and Prognostic Biomarkers for Thyroid Tumors
(Johann Ambrosius Barth Verlag Medizinverlage Heidelberg Gmbh, 2019)The literature suggests that mitochondrial DNA (mtDNA) defects are associated with a large number of diseases including cancers. The role of mtDNA variations in thyroid cancer is a highly controversial topic. Therefore, ... -
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
(Amer Soc Clinical Investigation Inc, 2016)BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described ... -
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
(Cell Press, 2019)Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for ... -
Radial gradient and radial deviation radiomic features from pre-surgical CT scans are associated with survival among lung adenocarcinoma patients
(Impact Journals Llc, 2017)The goal of this study was to extract features from radial deviation and radial gradient maps which were derived from thoracic CT scans of patients diagnosed with lung adenocarcinoma and assess whether these features are ... -
A rare cause of fever in an adult: a case of familial Mediterranean fever
(Dove Medical Press Ltd, 2018)Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever attacks and serositis. Nonspecific manifestations of the FMF can mimic many common acquired disorders ...