PubMed İndeksli Yayınlar Koleksiyonu by Institution Author "Solak, Mustafa"
Now showing items 1-4 of 4
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Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
Elmas, Muhsin; Göğüş, Başak; Kılıçarslan, Furkan; Bükülmez, Ayşegül; Solak, Mustafa (Georg Thieme Verlag Kg, 2021)Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is alpha-N ... -
Proteomic analysis of the anticancer effect of various extracts of endemicThermopsis turcica in human cervical cancer cells
Yıldız, Mustafa; Terzi, Hakan; Yıldız, Saliha Handan; Varol, Nuray; Özdemir Erdoğan, Müjgan; Kasap, Murat; Akçalı, Nermin; Solak, Mustafa (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 ... -
Relationship between SIRT1 gene expression level and disease in age-related cataract cases
Ağaoğlu, Nihat Buğra; Varol, Nuray; Yıldız, Saliha Handan; Karaosmanoğlu, Cem; Duman, Rahmi; Özdemir Erdoğan, Müjgan; Solak, Mustafa (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 ... -
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review
Elmas, Muhsin; Göğüş, Başak; Solak, Mustafa (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; ...
