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Toplam kayıt 22, listelenen: 1-10
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review
(Sage Publications Ltd, 2020)
INTRODUCTION: Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is "Poretti-Boltshauser Syndrome; ...
A case of spastic paraplegia type 11 with a variation in the SPG11 gene
(Springer, 2020)
Background: Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive ...
Boron, a Trace Mineral, Alleviates Gentamicin-Induced Nephrotoxicity in Rats
(Humana Press Inc, 2020)
The present study was considered to assess the protective effects of boron (B) on gentamicin-induced oxidative stress, proinflammatory cytokines, and histopathological changes in rat kidneys. Rats were split into eight ...
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience
(Karger, 2020)
The diagnosis of rare genetic diseases is one of the most difficult areas in medicine. Whole-exome sequencing (WES) technology makes it easier to diagnose these diseases. In addition, next-generation phenotyping can help ...
Evaluation of cytogenetic and y chromosome microdeletion analyzes in infertile cases
(Elsevier Science Bv, 2019)
Objective: The aim of our study is to determine the frequency of chromosome abnormalities and Y chromosome microdeletions which are the causes of primary infertility, in Afyonkarahisar. Materials and methods: Cytogenetic ...
Relationship between SIRT1 gene expression level and disease in age-related cataract cases
(2019)
Background/aim: Age-related cataract is the most important visual impairment all over the world. Epigenetic modifications, especially overexpression of histone deacetylases, have become the focus of interest for cataract ...
THE EFFECT OF HEAT SHOCK PROTEIN 90 INHIBITORS ON HISTONE 4 LYSINE 20 METHYLATION IN BLADDER CANCER
(Excli Journal Managing Office, 2019)
Heat shock protein 90 (HSP90), an ATP-dependent molecular chaperone required for the stability and function of numerous oncogenic signaling, is one of the hallmarks of cancer. Recent years, the studies showed that HSP90 ...
Investigating changes in β-adrenergic gene expression (ADRB1 and ADRB2) in Takotsubo (stress) cardiomyopathy syndrome; a pilot study
(Springer, 29.10.2021)
Background Takotsubo Cardiomyopathy (TC) is a rare disorder that is mostly caused by stress and is often misdiagnosed. We
aimed to analyze Takotsubo Syndrome at the molecular level by using the Oxford Nanopore Minion ...
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single‑Center Experience
(Springer, 12.08.2021)
Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical fndings of ...
Proteomic analysis of the anticancer effect of various extracts of endemicThermopsis turcica in human cervical cancer cells
(Turkiye Klinikleri, 2020)
Background/aim: Thermopsis turcica is a perennial species endemic to Turkey and different extracts of T. turcica have an antiproliferative effect on cancer cells, but there has not been any report on HeLa (human cervical ...