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 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 The impact of obesity and insulin resistance on thyroid cancer: A systematic review.
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The impact of obesity and insulin resistance on thyroid cancer: A systematic review.

Abstract In recent decades, there has been a marked increase in the prevalence of thyroid cancer. This phenomenon has paralleled the increase in the prevalence of obesity worldwide, which is…

Continue ReadingThe impact of obesity and insulin resistance on thyroid cancer: A systematic review.
Read more about the article The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database.
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The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database.

Abstract A pathologic expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene has been strongly associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) cases predominantly…

Continue ReadingThe role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database.
Read more about the article A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.
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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.

Abstract We describe the identification of a novel missense mutation in the second zinc finger of KLF1 in two siblings who, based on their genotype, are predicted to suffer from…

Continue ReadingA novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.
Read more about the article An investigation of polymorphisms in innate and adaptive immune response genes in canine leishmaniosis.
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An investigation of polymorphisms in innate and adaptive immune response genes in canine leishmaniosis.

Abstract The outcome of infection with Leishmania infantum in dogs is variable, which is thought to be due to the nature of the immune response mounted by the host. As…

Continue ReadingAn investigation of polymorphisms in innate and adaptive immune response genes in canine leishmaniosis.
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.