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Toplam kayıt 7, listelenen: 1-7
Dynamics of the Rhomboid-Like Protein Rhbdd2 Expression in Mouse Retina And Involvement of Its Human Ortholog in Retinitis Pigmentosa
(Amer Soc Biochemistry Molecular Biology Inc, 2013)
The novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed ...
Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome
(Springer, 2012)
Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ...
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 ...
Identification Of Mutations And Evaluation Of Cardiomyopathy In Turkish Patients With Primary Carnitine Deficiency
(Springer-Verlag Berlin, 2012)
Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by defective cellular carnitine transport. Patients usually present with predominant metabolic or cardiac manifestations. SCD is caused ...
Retinitis Pigmentosa Caused By Mutations in the Ciliary MAK Gene is Relatively Mild and is not Associated with Apparent Extra-Ocular Features
(Wiley, 2015)
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 ...
Prognostic Significance of Notch1 and Fbxw7 Mutations in Pediatric T-All
(Hindawi Ltd, 2010)
The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage ...
Discovery of Biomarkers In Rare Diseases: Innovative Approaches By Predictive and Personalized Medicine
(Springer, 2016)
There are more than 8000 rare diseases (RDs) that affect >5 % of the world’s population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging ...