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IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells
(Molecular Genetrics & Genome Medicine, 2019-06)
BackgroundFamily screening of a 48-year-old male with recently diagnosed IgG4-related disease (IgG4-RD) revealed unanticipated elevations in plasma IgG4 in his two healthy teenaged sons.
MethodsWe performed gene sequencing, ...
Therapeutic Silencing of Centromere Protein X Ameliorates Hyperglycemia in Zebrafish and Mouse Models of Type 2 Diabetes Mellitus
(Frontiers in Genetics, 2019-07-29)
Type 2 diabetes mellitus (T2DM) is characterized by persistent hyperglycemia and is influenced by genetic and environmental factors. Optimum T2DM management involves early diagnosis and effective glucose-lowering therapies. ...
The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium
(Molecular Genetics & Genome Medicine, 2019-06)
BackgroundEpidemiological studies consistently indicate that alcohol consumption is an independent risk factor for female breast cancer (BC). Although the aldehyde dehydrogenase 2 (ALDH2) polymorphism (rs671: Glu>Lys) has ...
A closer look at ARSA activity in a patient with metachromatic leukodystrophy
(Molecular Genetics and Metabolism Reports, 2019-06)
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes ...
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
(NPJ Genomic Medicine, 2019-08-23)
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly ...
African evolutionary history inferred from whole genome sequence data of 44 indigenous African populations
(Genome Biology, 2019-04-26)
BackgroundAfrica is the origin of modern humans within the past 300 thousand years. To infer the complex demographic history of African populations and adaptation to diverse environments, we sequenced the genomes of 92 ...
Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness
(Human Molecular Genetics, 2019-11-15)
Humans are social animals that experience intense suffering when they perceive a lack of social connection. Modern societies are experiencing an epidemic of loneliness. Although the experience of loneliness is universally ...