Kurum Yazarı "Solak, Mustafa" İçin Listeleme
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A case of spastic paraplegia type 11 with a variation in the SPG11 gene
Elmas, Muhsin; Göğüş, Başak; Değirmenci, Banu; Solak, Mustafa; Gleeson, J.G. (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 ... -
Cytogenetic analysis in infertile men
Solak, Mustafa; Gümüş, Bilal; Fıstık, Tevhide (2000)In this report, we present cytogenetic studies in primary infertile men. There are many ethiologic factors in male infertility. Chromosomal abnormalities are involved in these factors. Conventional cytogenetic and molecular ... -
Evaluation of cytogenetic and y chromosome microdeletion analyzes in infertile cases
Değirmenci, Banu; Solak, Mustafa; Yıldız, Saliha Handan; Özdemir Erdoğan, Müjgan; Elmas, Muhsin; Fıstık, Tevhide (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 ... -
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 ... -
Investigation of the expression levels of CPEB4, APC, TRIP13, EIF2S3, EIF4A1, IFNg,PIK3CA and CTNNB1 genes in different stage colorectal tumors
Söylemez, Zafer; Arıkan, Evrim Suna; Solak, Mustafa; Arıkan, Yüksel; Tokyol, Çiğdem; Şeker, Hüseyin (Turkiye Klinikleri, 2021)Background/aim: The aim of the study is to assess expression levels of CPEB4, APC, TRIP13, EIF2S3, EIF4A1, IFNg, PIK3CA and CTNNB1 genes in tumors and peripheral bloods of colorectal cancer patients in stages I-IV. Materials ... -
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single‑Center Experience
Elmas, Muhsin; Göğüş, Başak; Değirmenci, Banu; Gezdirici, Alper; Solak, Mustafa (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
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 ... -
Tubulin-specific chaperone D (TBCD) geninde yeni bir mutasyon tespit edilen pebat sendromlu olgu
Elmas, Muhsin; Göğüş, Başak; Bükülmez, Ayşegül; Solak, Mustafa (Ayşe SURUÇ, 2022)Tubulinopatiler, tubulin izoformlarını kodlayan çeşitli genlerde meydana gelen mutasyonların sebep olduğu nörogelişimsel / nörodejeneratif hastalıklar ailesini tanımlamaktadır. Tubulin katlanmasına ve polimerizasyonuna ... -
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; ... -
ÜÇ BOYUTLU GENOM ORGANİZASYONUNA GENEL BAKIŞ
Genomların temel özelliği hücre çekirdeğindeki üç boyutlu topolojik organizasyonudur. “Kromozom alanları” terimi nükleusun belli bölgelerinin belli kromozomlar tarafından kullanılmasını ifade etmektedir. Yani kromozomların ...