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Toplam kayıt 11, listelenen: 1-10
Functional Analysis Of A Duplication (P.E63_D69Dup) In The Switch Ii Region Of Hras: New Aspects Of The Molecular Pathogenesis Underlying Costello Syndrome
(Oxford Univ Press, 2013)
Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused ...
Structural And Functional Analysis Of Perforin Mutations In Association With Clinical Data Of Familial Hemophagocytic Lymphohistiocytosis Type 2 (Fhl2) Patients
(Wiley, 2013)
Perforin plays a key role in the immune system via pore formation at the target cell membrane in the elimination of virus-infected and transformed cells. A vast number of observed mutations in perforin impair this mechanism ...
Missense Mutation In The Atpase, Aminophospholipid Transporter Protein Atp8A2 Is Associated With Cerebellar Atrophy And Quadrupedal Locomotion
(Nature Publishing Group, 2013)
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity ...
Polyproline Tetramer Organizing Peptides in Fetal Bovine Serum Acetylcholinesterase
(Elsevier Science Bv, 2013)
Acetylcholinesterase (AChE) in the serum of fetal cow is a tetramer. The related enzyme, butyrylcholinesterase (BChE), in the sera of humans and horse requires polyproline peptides for assembly into tetramers. Our goal was ...
Evaluation Of Dihydropteridine Reductase Activities In Patients With Kidney Failure
(Walter De Gruyter Gmbh, 2013)
End-stage renal disease (ESRD) is the inability of the kidneys to remove waste products from the blood. The most important factors causing ESRD that require hemodialysis are diabetes and hypertension. There are limited ...
Characterizing The S-Layer Structure And Anti-S-Layer Antibody Recognition On Intact Tannerella Forsythia Cells By Scanning Probe Microscopy And Small Angle X-Ray Scattering
(Wiley-Blackwell, 2013)
Tannerella forsythia is among the most potent triggers of periodontal diseases, and approaches to understand underlying mechanisms are currently intensively pursued. A similar to 22-nm-thick, 2D crystalline surface (S-) ...
Tryptophan Degradation And Neopterin Levels By Aging
(Walter De Gruyter Gmbh, 2013)
Increased neopterin concentrations and altered tryptophan degradation are observed in diseases concomitant with cellular immune activation. This may be involved in the pathogenesis of several age-related disorders such as ...
Spot Analyses Of Serum Neopterin, Tryptophan And Kynurenine Levels In A Random Group Of Blood Donor Population
(Walter De Gruyter Gmbh, 2013)
In transfusions, safety measures are used for the health of both receivers and donors. In this regard, early and sensitive markers are strongly needed. The aim of this study was to evaluate neopterin profile and tryptophan ...
Design, Synthesis And In Vivo/In Vitro Screening Of Novel Chlorokojic Acid Derivatives
(Taylor & Francis Ltd, 2013)
A series of novel Mannich bases of chlorokojic acid (2-chloromethyl-5-hydroxy-4H-pyran-4-one) were synthesized and their biological activities were investigated. Anticonvulsant activity results according to phase-I tests ...
A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)
Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ...