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Showing 1–17 of 17 results
Advanced filters: Author: Miriam Mitchison Clear advanced filters

  • David Mitchell, Hannah Mitchison and colleagues identify a new Chlamydomonas protein required for the preassembly of axonemal dyneins before their transport into cilia. They further show that mutations in the homologous gene in humans result in primary ciliary dyskinesia accompanied by defects in the assembly of inner and outer dynein arms.

    • Hannah M Mitchison
    • Miriam Schmidts
    • David R Mitchell
    Research
    Nature Genetics
    Volume: 44, P: 381-389

  • 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

  • High-depth sequencing of non-cancerous tissue from patients with metastatic cancer reveals single-base mutational signatures of alcohol, smoking and cancer treatments, and reveals how exogenous factors, including cancer therapies, affect somatic cell evolution.

    • Oriol Pich
    • Sophia Ward
    • Nicholas McGranahan
    ResearchOpen Access
    Nature
    P: 1-11

  • Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly of a subset of inner arm dyneins.

    • Chiara Olcese
    • Mitali P. Patel
    • Hannah M. Mitchison
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-15

  • Heymut Omran, Joseph LoTurco and colleagues show that mutations in the dyslexia susceptibility candidate gene DYX1C1 cause primary ciliary dyskinesia. Their functional studies suggest that DYX1C1 is required for the cytoplasmic preassembly of axonemal dynein complexes.

    • Aarti Tarkar
    • Niki T Loges
    • Heymut Omran
    Research
    Nature Genetics
    Volume: 45, P: 995-1003

  • The heterogeneity of androgen receptor (AR) gene alterations across metastases in prostate cancer remains unresolved. Here, the authors characterise AR genomic complexity across spatially separated lethal metastases from 10 prostate cancer patients and investigate how AR alterations evolve.

    • A. M. Mahedi Hasan
    • Paolo Cremaschi
    • Gerhardt Attard
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-16

  • 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

  • Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new insights into several biological processes and diseases.

    • Karsten Boldt
    • Jeroen van Reeuwijk
    • Kathy Williamson
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-13

  • 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