Read more about the article The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
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The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.

Abstract The purpose of this study was to identify the mutations responsible for phenylalanine hydroxylase deficiency in Cypriot patients detected through neonatal screening. Analysis of the PAH gene was performed…

Continue ReadingThe spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
Read more about the article A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy.
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A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy.

Abstract Heparin binding epidermal growth factor (HBEGF) is expressed in podocytes and was shown to play a role in glomerular physiology. MicroRNA binding sites on the 3'UTR of HBEGF were…

Continue ReadingA miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy.
Read more about the article High-resolution whole-mount in situ hybridization using Quantum Dot nanocrystals.
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High-resolution whole-mount in situ hybridization using Quantum Dot nanocrystals.

Abstract The photostability and narrow emission spectra of nanometer-scale semiconductor crystallites (QDs) make them desirable candidates for whole-mount fluorescent in situ hybridization to detect mRNA transcripts in morphologically preserved intact…

Continue ReadingHigh-resolution whole-mount in situ hybridization using Quantum Dot nanocrystals.
Read more about the article The analysis of near full-length genome sequences of HIV type 1 subtype A viruses from Russia supports the monophyly of major intrasubtype clusters.
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The analysis of near full-length genome sequences of HIV type 1 subtype A viruses from Russia supports the monophyly of major intrasubtype clusters.

Abstract The HIV-1 epidemic in Russia has been insufficiently studied, with only 11 complete genome sequences from this country currently available, only three of which are of the locally predominant…

Continue ReadingThe analysis of near full-length genome sequences of HIV type 1 subtype A viruses from Russia supports the monophyly of major intrasubtype clusters.
Read more about the article Down-regulation of myogenin can reverse terminal muscle cell differentiation.
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Down-regulation of myogenin can reverse terminal muscle cell differentiation.

Abstract Certain higher vertebrates developed the ability to reverse muscle cell differentiation (dedifferentiation) as an additional mechanism to regenerate muscle. Mammals, on the other hand, show limited ability to reverse…

Continue ReadingDown-regulation of myogenin can reverse terminal muscle cell differentiation.
Read more about the article Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.
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Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.

Abstract Familial hematuria (FH) is associated with at least two pathological entities: thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/COL4A4 mutations, and C3 nephropathy caused by CFHR5 mutations. It…

Continue ReadingEvidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.
Read more about the article Conservation of endemic and threatened wildlife: molecular forensic DNA against poaching of the Cypriot mouflon (Ovis orientalis ophion, Bovidae).
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Conservation of endemic and threatened wildlife: molecular forensic DNA against poaching of the Cypriot mouflon (Ovis orientalis ophion, Bovidae).

Abstract Molecular DNA techniques in combination with appropriate reference population database and statistical methods are fundamental tools to forensic wildlife investigations. This is even more relevant when taxa with uncertain…

Continue ReadingConservation of endemic and threatened wildlife: molecular forensic DNA against poaching of the Cypriot mouflon (Ovis orientalis ophion, Bovidae).
Read more about the article Acute promyelocytic leukemia: an experience on 95 greek patients treated in the all-trans-retinoic Acid era.
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Acute promyelocytic leukemia: an experience on 95 greek patients treated in the all-trans-retinoic Acid era.

Abstract Acute promyelocytic leukemia (APL) is highly curable with the combination of all-transretinoic acid (ATRA) and anthracycline based chemotherapy, but the percentage of early deaths remains high. In the present…

Continue ReadingAcute promyelocytic leukemia: an experience on 95 greek patients treated in the all-trans-retinoic Acid era.
Read more about the article A new public health genomics model for common complex diseases, with an application to common behavioral disorders.
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A new public health genomics model for common complex diseases, with an application to common behavioral disorders.

Abstract In the light of common forms of gene-environment interplay, particularly epigenomics and ecogenetics, the incorporation of envirome data into public health genomics models becomes necessary. Developing and restructuring public…

Continue ReadingA new public health genomics model for common complex diseases, with an application to common behavioral disorders.
Read more about the article LaTcOm: a web server for visualizing rare codon clusters in coding sequences.
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LaTcOm: a web server for visualizing rare codon clusters in coding sequences.

Abstract We present LaTcOm, a new web tool, which offers several alternative methods for 'rare codon cluster' (RCC) identification from a single and simple graphical user interface. In the current…

Continue ReadingLaTcOm: a web server for visualizing rare codon clusters in coding sequences.