Read more about the article Correction of IVS I-110(G>A) β-thalassemia by CRISPR/Cas- and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells.
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Correction of IVS I-110(G>A) β-thalassemia by CRISPR/Cas- and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells.

Abstract

Continue ReadingCorrection of IVS I-110(G>A) β-thalassemia by CRISPR/Cas- and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells.
Read more about the article Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
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Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.

Abstract Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) resulting from mutations in the GALT gene. The objectives of…

Continue ReadingClassic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Read more about the article A novel heterozygous duplication of the gene in two Gitelman syndrome pedigrees: indicating a founder effect.
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A novel heterozygous duplication of the gene in two Gitelman syndrome pedigrees: indicating a founder effect.

Abstract Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the gene. A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe…

Continue ReadingA novel heterozygous duplication of the gene in two Gitelman syndrome pedigrees: indicating a founder effect.
Read more about the article Disruptive Technology: CRISPR/Cas-Based Tools and Approaches.
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Disruptive Technology: CRISPR/Cas-Based Tools and Approaches.

Abstract Designer nucleases are versatile tools for genome modification and therapy development and have gained widespread accessibility with the advent of clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas)…

Continue ReadingDisruptive Technology: CRISPR/Cas-Based Tools and Approaches.
Read more about the article Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.
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Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.

Abstract Rare diseases pose a global challenge, in that their collective impact on health systems is considerable, whereas their individually rare occurrence impedes research and development of efficient therapies. In…

Continue ReadingRare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.
Read more about the article Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease.
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Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease.

Abstract To investigate how genotype is related to phenotype and document correlations of genotype-phenotype with response of topical administration of dorzolamide in siblings affected with X-linked juvenile retinoschisis (XLRS). We…

Continue ReadingIntrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease.
Read more about the article Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
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Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.

Abstract Charcot-Marie-Tooth disease type 4C is the most common recessively inherited demyelinating neuropathy that results from loss of function mutations in the SH3TC2 gene. Sh3tc2-/- mice represent a well characterized…

Continue ReadingGene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
Read more about the article Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy.
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Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy.

Abstract Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by microscopic and synpharyngitic macroscopic haematuria, C3 glomerulonephritis and renal failure. It is caused by an…

Continue ReadingClinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy.
Read more about the article Hypothesis, analysis and synthesis, it’s all Greek to me.
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Hypothesis, analysis and synthesis, it’s all Greek to me.

Abstract The linguistic foundations of science and technology include many terms that have been borrowed from ancient languages. In the case of terms with origins in the Greek language, the…

Continue ReadingHypothesis, analysis and synthesis, it’s all Greek to me.
Read more about the article Contribution of ghrelin to functional gastrointestinal disorders’ pathogenesis.
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Contribution of ghrelin to functional gastrointestinal disorders’ pathogenesis.

Abstract Functional gastrointestinal disorders (FGID) are heterogeneous disorders with a variety of clinical manifestations, primarily defined by signs and symptoms rather than a definite underlying cause. Their pathophysiology remains obscure…

Continue ReadingContribution of ghrelin to functional gastrointestinal disorders’ pathogenesis.