Read more about the article Rapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies.
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Rapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies.

Abstract The β-hemoglobinopathies sickle cell anemia and β-thalassemia are the focus of many gene-therapy studies. A key disease parameter is the abundance of globin chains because it indicates the level…

Continue ReadingRapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies.
Read more about the article Arterial tortuosity syndrome: 40 new families and literature review.
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Arterial tortuosity syndrome: 40 new families and literature review.

Abstract PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused…

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Read more about the article Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium.
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Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium.

Abstract Polygenic risk scores (PRS) for breast cancer can be used to stratify the population into groups at substantially different levels of risk. Combining PRS and environmental risk factors will…

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Read more about the article MicroRNAs as possible biomarkers for screening of aortic aneurysms: a systematic review and validation study.
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MicroRNAs as possible biomarkers for screening of aortic aneurysms: a systematic review and validation study.

Abstract There is an urgent need to identify non-invasive biomarkers for the early detection of aortic aneurysms, preceding a fatal event. The potential role for MicroRNAs (miRNAs) as diagnostic markers…

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Read more about the article Epigenetic Changes in the CRH Gene are Related to Severity of Suicide Attempt and a General Psychiatric Risk Score in Adolescents.
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Epigenetic Changes in the CRH Gene are Related to Severity of Suicide Attempt and a General Psychiatric Risk Score in Adolescents.

Abstract The aim of this study, comprising 88 suicide attempters, was to identify hypothalamic-pituitary-adrenal (HPA) -axis coupled CpG-sites showing methylation shifts linked to severity of the suicide attempt. Candidate methylation…

Continue ReadingEpigenetic Changes in the CRH Gene are Related to Severity of Suicide Attempt and a General Psychiatric Risk Score in Adolescents.
Read more about the article Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Abstract Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from…

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Read more about the article The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Abstract Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and…

Continue ReadingThe BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Read more about the article Improving ancestry distinctions among Southwest Asian populations.
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Improving ancestry distinctions among Southwest Asian populations.

Abstract The Kidd Lab panel of 55 AISNPs can provide up to 10 statistically relevant biogeographic groupings of a global set of populations. A second-tier panel would be useful for…

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Read more about the article Food and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.
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Food and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.

Abstract Physical activity (PA) levels and dietary habits are considered some of the most important factors associated with obesity. The present study aimed to examine the association between PA level…

Continue ReadingFood and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.
Read more about the article Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
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Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

Abstract Epidemiological, biological, and molecular data suggest links between endometriosis and endometrial cancer, with recent epidemiological studies providing evidence for an association between a previous diagnosis of endometriosis and risk…

Continue ReadingGenetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.