Read more about the article A Novel BaEVRless-Pseudotyped γ-Globin Lentiviral Vector Drives High and Stable Fetal Hemoglobin Expression and Improves Thalassemic Erythropoiesis .
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A Novel BaEVRless-Pseudotyped γ-Globin Lentiviral Vector Drives High and Stable Fetal Hemoglobin Expression and Improves Thalassemic Erythropoiesis .

Abstract It has previously been demonstrated that the self-inactivating γ-globin lentiviral vector GGHI can significantly increase fetal hemoglobin (HbF) in erythroid cells from thalassemia patients and thus improve the disease…

Continue ReadingA Novel BaEVRless-Pseudotyped γ-Globin Lentiviral Vector Drives High and Stable Fetal Hemoglobin Expression and Improves Thalassemic Erythropoiesis .
Read more about the article Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
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Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Abstract Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all…

Continue ReadingExpert consensus guidelines for the genetic diagnosis of Alport syndrome.
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)…

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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…

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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…

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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 Ageing Throughout History: The Evolution of Human Lifespan.
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Ageing Throughout History: The Evolution of Human Lifespan.

Abstract It is not surprising that one of the most complex phenomena in nature is that of ageing. It does not only bear biological interest, but it is also associated…

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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…

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