Çocuk Sağlığı Enstitüsü Makale Koleksiyonu
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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 ... -
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 ... -
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 ... -
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 ... -
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 ... -
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 ... -
Myocilin Mt1 Promoter Polymorphism In Turkish Patients With Primary Open Angle Glaucoma
(Molecular Vision, 2005)Purpose: To evaluate the association of the myocilin gene promoter variant -1000C>G (MYOC.mt1) with primary open angle glaucoma (POAG) and its possible role on the phenotype and the severity of glaucoma in Turkish patients. ... -
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 ... -
Molecular Characterization Of Turkish Patients With Pyrimidine 5 ' Nucleotidase-I Deficiency
(Amer Soc Hematology, 2003)Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within ... -
Effects of Respiration on Left Ventricular Diastolic Function in Healthy Children
(The European Society of Cardiology, 1996)Pulsed Doppler echocardiographic indices of mitral valve filling were measured in 20 healthy children, between 3 and 125 years old, in order to evaluate the effects of spontaneous respiration on left ventricular diastolic ... -
Aspects of Pre-Eclamptic Toxemia of Pregnancy, Consanguinity, and Twinning in Ankara
(British Med Journal Publ Group, 1976)It appears that women classed as having pre-eclamptic toxaemia are less frequently consanguineous with their husbands than all other mothers and in particular those mothers classed as having pregnancies complicated by ...
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