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 Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.
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Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.

Abstract Circulating levels of adiponectin, an adipocyte-secreted protein associated with cardiovascular and metabolic risk, are highly heritable. To gain insights into the biology that regulates adiponectin levels, we performed an…

Continue ReadingExome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.
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.
Read more about the article Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients.
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Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients.

Abstract Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system (CNS) where both environmental and genetic risk factors play a role. Among the environmental risk factors,…

Continue ReadingComplete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients.
Read more about the article The future of paediatric and adolescent gynaecology in Europe.
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The future of paediatric and adolescent gynaecology in Europe.

Abstract Paediatric and Adolescent Gynaecology (PAG) is a subspecialty under the umbrella of Obstetrics and Gynaecology but linked to other branches of medicine including Paediatrics, Surgery, Endocrinology and Urology. Therefore…

Continue ReadingThe future of paediatric and adolescent gynaecology in Europe.
Read more about the article TNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the phenotypic spectrum.
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TNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the phenotypic spectrum.

Abstract Dysosteosclerosis (DOS) is a distinct form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. DOS is genetically heterogeneous; however, only five cases with SLC29A3 mutations and a…

Continue ReadingTNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the phenotypic spectrum.
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.