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Showing 1–13 of 13 results
Advanced filters: Author: Elena G Bochukova Clear advanced filters

  • The contribution of copy number variation to obesity — a highly heritable and genetically heterogeneous disorder — is investigated in 300 Caucasian patients to reveal that large, rare deletions are significantly enriched in patients compared to controls. Several rare copy number variants are identified that are recurrent in patients but absent or at much lower prevalence in controls.

    • Elena G. Bochukova
    • Ni Huang
    • I. Sadaf Farooqi
    Research
    Nature
    Volume: 463, P: 666-670

  • Neurons expressing pro-opiomelanocortin (Pomc) regulate food intake and body weight. Here the authors show that Steroid Receptor Coactivator-1 (SRC-1) regulates the function of Pomc expressing neurons, and that rare heterozygous variants found in obese individuals lead to loss of SRC-1 function.

    • Yongjie Yang
    • Agatha A. van der Klaauw
    • Yong Xu
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-14

  • Sadaf Farooqi, Inês Barroso and colleagues report genome-wide SNP and CNV association analyses for severe obesity in children, selected at the extreme of the distribution for body mass index. They identify four loci newly associated with severe obesity, an enrichment of rare CNVs in severely obese cases and overlap in the loci associated with severe obesity in children and with BMI and obesity in the general population.

    • Eleanor Wheeler
    • Ni Huang
    • I Sadaf Farooqi
    Research
    Nature Genetics
    Volume: 45, P: 513-517

  • Morris Brown and colleagues identify somatic mutations in ATP1A1 and CACNA1D in aldosterone-producing adenomas with features resembling zonaglomerulosa cells. They further show that the ATP1A1 mutations cause inward leak currents under physiological conditions, whereas the CACNA1D mutations induce a shift of voltage-dependent gating to more negative potentials and suppress channel inactivation.

    • Elena A B Azizan
    • Hanne Poulsen
    • Morris J Brown
    Research
    Nature Genetics
    Volume: 45, P: 1055-1060

  • Levels of circulating thyrotropin and free thyroxine reflect thyroid function, however, their genetic underpinnings remain poorly understood. Taylor et al. take advantage of whole-genome sequence data from cohorts within the UK10K project to identify novel variants associated with these traits.

    • Peter N. Taylor
    • Eleonora Porcu
    • Pingbo Zhang
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-11

  • Imputation uses genotype information from SNP arrays to infer the genotypes of missing markers. Here, the authors show that an imputation reference panel derived from whole-genome sequencing of 3,781 samples from the UK10K project improves the imputation accuracy and coverage of low frequency variants compared to existing methods.

    • Jie Huang
    • Bryan Howie
    • Nicole Soranzo
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-9

  • Population-based genome sequencing provides an increasingly rich resource for the identification of low-frequency, large effect variants associated with clinically important phenotypes. Timpson et al. use UK10K data to identify a variant of the APOC3gene strongly associated with plasma triglyceride levels.

    • Nicholas J. Timpson
    • Klaudia Walter
    • Hou-Feng Zheng
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-11

  • Size and shape of the brain are, among others, influenced by the dimensions of the skull. Here, the authors report genome-wide association studies for head circumference and intracranial volume in children and adults and the identification of nine common or low-frequency variants associated with these traits.

    • Simon Haworth
    • Chin Yang Shapland
    • Beate St Pourcain
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16

  • Low read depth sequencing of whole genomes and high read depth exomes of nearly 10,000 extensively phenotyped individuals are combined to help characterize novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with lipid-related traits; in addition to describing population structure and providing functional annotation of rare and low-frequency variants the authors use the data to estimate the benefits of sequencing for association studies.

    • Klaudia Walter
    • Josine L. Min
    • Weihua Zhang
    ResearchOpen Access
    Nature
    Volume: 526, P: 82-90

  • Severe congenital development defects such as Jeune syndrome can result from the malfunction of primary cilia and dynein. Here Schmidts et al. report unique biallelic null mutations in a gene encoding a dynein light chain, helping to explain the nature of ciliopathies in human patients.

    • Miriam Schmidts
    • Yuqing Hou
    • Hou-Feng Zheng
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-14