Yazar "Süzek, Barış Ethem" için listeleme
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Comparison of protein expression profile of limb regeneration between neotenic and metamorphic axolotl
Sibai, Mustafa; Altuntaş, Ebru; Süzek, Barış Ethem; Şahin, Betül; Parlayan, Cüneyd; Öztürk, Gürkan; Baykal, Ahmet Tarık; Demircan, Turan (Elsevier, 2020)The axolotl (Ambystoma mexicanum) salamander, a urodele amphibian, has an exceptional regenerative capacity to fully restore an amputated limb throughout the life-long lasting neoteny. By contrast, when axolotls are ... -
DEVOUR: Deleterious variants on uncovered regions in whole-exome sequencing
Türk, Erdem; Ayaz, Akif; Yüksek, Ayhan; Süzek, Barış Ethem (PeerJ Inc., 2023)The discovery of low-coverage (i.e. uncovered) regions containing clinically significant variants, especially when they are related to the patient's clinical phenotype, is critical for whole-exome sequencing (WES) based ... -
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
Ayaz, Akif; Doğru, Zeynep; Kılıç, Betül; Süzek, Barış Ethem (Elsevier B.V., 2022)Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were ... -
In silico analysis of a highly mutated gene in cancer provides insight into abnormal mRNA splicing: Splicing factor 3B subunit 1k700e mutant
Samy, Asmaa; Süzek, Barış Ethem; Özdemir, Mehmet Kemal; Şensoy, Özge (MDPI AG, 2020)Cancer is the second leading cause of death worldwide. The etiology of the disease has remained elusive, but mutations causing aberrant RNA splicing have been considered one of the significant factors in various cancer ... -
Preclinical molecular signatures of spinal cord functional restoration: Optimizing the metamorphic axolotl (ambystoma mexicanum) model in regenerative medicine
Demircan, Turan; Hacıbektaşoğlu, Harbiye; Sibai, Mustafa; Cana Fesçioğlu, Ece; Altuntaş, Ebru; Öztürk, Gürkan; Süzek, Barış Ethem (Mary Ann Liebert, 2020)Regenerative medicine offers hope for patients with diseases of the central and peripheral nervous system. Urodele amphibians such as axolotl display an exceptional regenerative capacity and are considered as essential ...