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A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis

Çubuk, Hasan; Yalçın Çapan, Özlem (Springer, 2021)

Mutations in HNF transcription factor genes cause the most common subtypes of maturity-onset of diabetes of youth (MODY), a monogenic form of diabetes mellitus. Mutations in the HNF1-alpha, HNF4-alpha, and HNF1-beta genes ...

Gene therapy in haemophilia: literature review and regional perspectives for Turkey

Kavakli, Kaan; Antmen, Bulent; Okan, Vahap; Sahin, Fahri; Aytac, Selin; Balkan, Can; Berber, Ergul; Kaya, Zuhre; Kupesiz, Alphan; Zulfikar, Bulent (SAGE Publications Ltd, 2022)

Haemophilia is an X-linked lifelong congenital bleeding disorder that is caused by insufficient levels of factor VIII (FVIII; haemophilia A) or factor IX (FIX; haemophilia B) and characterized by spontaneous and trauma-related ...