Tür "review" PubMed İndeksli Yayınlar Koleksiyonu için listeleme
Toplam kayıt 4, listelenen: 1-4
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Gene therapy in haemophilia: literature review and regional perspectives for Turkey
(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 ... -
Neuroprotective strategies against calpain-mediated neurodegeneration
(DOVE MEDICAL PRESS LTD, 2015)Calpains are calcium-dependent proteolytic enzymes that have deleterious effects on neurons upon their pathological over-activation. According to the results of numerous studies to date, there is no doubt that abnormal ... -
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis
(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 ... -
Thyroid hormone resistance with succinate dehydrogenase-B gene mutation
(Edizioni Minerva Medica, 2022)Resistance to thyroid hormone (RTH) is characterized by non-suppressed TSH concentration despite high T4 and/or T3 levels.1 Resistance may develop at any steps in the hormone receptor binding, signaling, or intracellular ...