Search Results - "Yuksel, Sirin"
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IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation
Published in Scientific reports (10-06-2016)“…The single nucleotide polymorphism rs55705857, located in a non-coding but evolutionarily conserved region at 8q24.21, is strongly associated with IDH-mutant…”
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Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas
Published in Journal of neurosurgery (01-04-2018)“…OBJECTIVE Recent studies have established that hemispheric diffuse gliomas may be grouped into subsets on the basis of molecular markers; these subsets are…”
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Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma
Published in BMC medical genomics (23-02-2021)“…In the clinical setting, workflows for analyzing individual genomics data should be both comprehensive and convenient for clinical interpretation. In an effort…”
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Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms
Published in Biomedicines (07-12-2020)“…Little is known about the mutational processes that shape the genetic landscape of gliomas. Numerous mutational processes leave marks on the genome in the form…”
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Is 1p36 deletion associated with anterior body wall defects?
Published in American journal of medical genetics. Part A (01-07-2016)“…Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects), respectively constitute the most…”
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Angiogenesis, Invasion, and Metastasis Characteristics of Hepatocellular Carcinoma
Published in Journal of gastrointestinal cancer (01-09-2017)Get full text
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Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
Published in Journal of human genetics (01-12-2015)“…We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one…”
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Novel Mutation of Aspartoacylase Gene in a Turkish Patient with Canavan Disease
Published in Journal of tropical pediatrics (1980) (01-06-2008)“…Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population,…”
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Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006
Published in Emerging infectious diseases (01-03-2008)“…We report mutations in influenza A virus (H5N1) strains associated with 2 outbreaks in Turkey. Four novel amino acid changes (Q447L, N556K, and R46K in RNA…”
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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer
Published in Frontiers in genetics (21-02-2023)“…Identifying pathogenic missense variants in hereditary cancer is critical to the efforts of patient surveillance and risk-reduction strategies. For this…”
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Analysis of mitochondrial DNA control region D-Loop in gliomas: Result of 52 patients
Published in Turkish neurosurgery (01-01-2021)“…Role of extrachromosomal DNA in cancer and the consequences of mutations are unclear. However, mitochondrial DNA (mtDNA) variants in the D-loop region have…”
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Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31
Published in Child's nervous system (01-08-2015)“…Purpose Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few…”
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Toward In Vitro Epigenetic Drug Design for Thyroid Cancer: The Promise of PF-03814735, an Aurora Kinase Inhibitor
Published in Omics (Larchmont, N.Y.) (01-10-2019)“…Thyroid cancer (TC) is a very common malignancy worldwide. Chief among the innovative molecular drug targets for TC are epigenetic modifications. Increased…”
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Lack of hotspot mutations other than TP53 R249S in aflatoxin B1 associated hepatocellular carcinoma
Published in Turkish Journal of Biochemistry (13-04-2020)Get full text
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Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype
Published in BMC genetics (28-09-2013)“…Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals…”
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Mutation in MEOX1gene causes a recessive Klippel-Feil syndrome subtype
Published in BMC genetics (28-09-2013)“…Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals…”
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Lack of hotspot mutations other than TP53 R249S in aflatoxin B1 associated hepatocellular carcinoma: Aflatoksin B1 kaynaklı hepatosellüler karsinomlarda özgün TP53 R249S dışındaki mutasyonların eksikliği
Published in Turkish Journal of Biochemistry (02-10-2020)“…Abstract Objective Despite the recent advances in diagnosis and treatment of hepatocellular carcinoma (HCC), it is still a major health problem. Therefore,…”
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Angiogenesis, Invasion, and Metastasis Characteristics of Hepatocellular Carcinoma
Published in Journal of gastrointestinal cancer (2017)Get full text
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