Browsing by Author "Sayitoglu, Muge"
Now showing items 1-6 of 6
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Lösemi modelinde tüm Genom RNA dizileme analiz algoritması geliştirilmesi
Sun Gungorurler, Eda; Sayitoglu, Muge (DergiPark, 2020)Amaç: RNA Dizileme teknolojisi gen anlatım farklılıkları ve kodlayan bölgedeki varyasyonlar, kodlama yapmayan küçük RNAların anlatımları ve gen füzyonlarının belirlenmesi ile bu farklılıkların nedenlerini sunabilmektedir. ... -
Lymphoma predisposing gene in an extended family: CD70 signaling defect
Khodzhaev, Khusan; Bay, Sema Buyukkapu; Kebudi, Rejin; Altindirek, Didem; Kaya, Aysenur; Erbilgin, Yucel; Ng, Ozden Hatirnaz; Kiykim, Ayca; Erol Cipe, Funda; Sen Zengin, Feride; Firtina, Sinem; Ng, Yuk Yin; Aksoy, Basak Adakli; Sayitoglu, Muge (Springer/Plenum Publishers, 2020)Genome-wide sequencing studies in pediatric cancer cohorts indicate that about 10% of patients have germline mutations within cancer predisposition genes. Within this group, primary immune deficiencies take the priority ... -
Mutational landscape of severe combined immunodeficiency patients from Turkey
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra H.; Reisli, İsmail; Torun, Selda H.; Çöğürlü, Tuba; Uygun, Dilara; Şimşek, Işıl E.; Kaya, Ayşenur; Erol Cipe, Funda; Çağdaş, Deniz; Yücel, Esra; Çekiç, Şükrü; Uygun, Vedat; Barış, Safa; Özen, Ahmet; Özbek, Ugur; Sayitoglu, Muge (Wiley, 2020)Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ... -
A novel candidate gene for predisposition of hodgkin lymphoma; Pregnan x receptor (PXR)
Kebudi, Rejin; Erbilgin, Yucel; Khodzhaev, Khusan; Saritas, Merve; Bozkurt, Ceyhun; Sayitoglu, Muge (AMER SOC HEMATOLOGY, 2021)No Abstract Available -
PTEN and AKT1 variations in childhood T-Cell acute lymphoblastic leukemia
Küçükcankurt, Fulya; Erbilgin, Yücel; Fırtına, Sinem; Ng, Özden Hatırnaz; Karakaş, Zeynep; Celkan, Tülin Tiraje; Ünüvar, Ayşegül; Özbek, Uğur; Sayitoglu, Muge (Galenos Yayincilik, 2020)Objective: PTEN/AKT pathway deregulations have been reported to be associated with treatment response in acute leukemia. This study examined pediatric T-cell acute lymphoblastic leukemia (T-ALL) samples for PTEN and AKT1 ... -
Somatic hypermutation defects in two adult hyper immunoglobulin M patients
Yılmaz, Hülya; Fırtına, Sinem; Saritas, Merve; Sayitoglu, Muge; Ar, Muslum Cem (Springer, 2022)Hyper immunoglobulin M (HIGM) syndrome is a rare disorder of the immune system with impaired antibody functions. The clinical picture of the patients varies according to the underlying genetic variation. In this study, ...
