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Ağır Kombine İmmün Yetmezlikli Hastalarda, Hastalığa Neden Olan Genetik Defektlerin Yeni Nesil Dizileme Yöntemiyle Araştırılması
(Çocuk Sağlığı Enstitüsü, 2015)
Severe combined immunodeficiency is the most severe form of primary immunodeficiencies. Patients with SCID present with high susceptibility to fatal bacterial, viral and fungal infections in their first year of life. Early ...
Interleukin-1 Induced Nuclear Factor-B Binds to a Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif 9 Promoter in Human Chondrosarcoma Cells
(Spandidos Publ Ltd, 2015)
Nuclear factor-B (NF-B) is involved in the regulation of inflammation-associated genes. NF-B forms dimers which bind with sequences referred to as NF-B sites (9-11 bp). A disintegrin-like and metalloproteinase with ...
Retinitis Pigmentosa Caused By Mutations in the Ciliary MAK Gene is Relatively Mild and is not Associated with Apparent Extra-Ocular Features
Purpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our ...