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Showing 1–25 of 25 results
Advanced filters: Author: Natalie M. Niemi Clear advanced filters

  • The mitochondrial phosphatase PPTC7 has previously been linked to the maintenance of mitochondrial content, but the mechanisms underlying this phenotype remain unclear. Here, the authors demonstrate that loss of Pptc7 results in metabolic defects and further suggest that PPTC7 is a regulator of receptor-mediated mitophagy.

    • Natalie M. Niemi
    • Lia R. Serrano
    • David J. Pagliarini
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-17

  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477

  • Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

    • Athanasios Kousathanas
    • Erola Pairo-Castineira
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 607, P: 97-103

  • To better understand the etiology of frailty, the authors perform a large genetic study. They identified 45 additional variants and implicated MET, CHST9, ILRUN, APOE, CGREF1 and PPP6C as potential causal genes, linking frailty to immune regulation, metabolism and cellular signaling.

    • Jonathan K. L. Mak
    • Chenxi Qin
    • Juulia Jylhävä
    ResearchOpen Access
    Nature Aging
    Volume: 5, P: 1589-1600

  • Direct infusion–shotgun proteome analysis (DI-SPA) using data-independent acquisition mass spectrometry (DIA-MS) achieves fast and reproducible results by omitting the liquid-chromatography fractionation step and directly performing gas-phase peptide fractionation by ion mobility.

    • Jesse G. Meyer
    • Natalie M. Niemi
    • Joshua J. Coon
    Research
    Nature Methods
    Volume: 17, P: 1222-1228

  • Mitochondrial proteins are frequently acetylated, but most of these modifications are thought to occur non-enzymatically, rather than requiring an acetyltransferase. A new study by Akhtar and colleagues challenges this view by demonstrating that MOF, a well-characterized histone acetyltransferase, bolsters mitochondrial metabolism by acetylating the complex IV assembly factor COX17.

    • Natalie Niemi
    News & Views
    Nature Metabolism
    Volume: 5, P: 1846-1847

  • The mitochondria houses several phosphatases, but their function is not well characterized. Here, the authors show that mitochondrial phosphatase Pptc7 is important during development for proper mitochondrial function and has a role regulating protein import with the translocase subunit Timm50.

    • Natalie M. Niemi
    • Gary M. Wilson
    • David J. Pagliarini
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-14

  • Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

    • Céline Bellenguez
    • Fahri Küçükali
    • Jean-Charles Lambert
    ResearchOpen Access
    Nature Genetics
    Volume: 54, P: 412-436

  • Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male and female cases and therefore does not solely explain male bias in DDs.

    • Hilary C. Martin
    • Eugene J. Gardner
    • Matthew E. Hurles
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-13

  • Narcolepsy has genetic and environmental risk factors, but the specific genetic risk loci and interaction with environmental triggers are not well understood. Here, the authors identify genetic loci for narcolepsy, suggesting infection as a trigger and dendritic and helper T cell involvement.

    • Hanna M. Ollila
    • Eilon Sharon
    • Emmanuel J. Mignot
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13

  • Mentorship from experienced peers critically improves individual career development and satisfaction in academia, but we have little information on how researchers are supported. We identify and recommend strategies for faculty members, departments, institutions and funders to ensure sustained excellence in academic mentorship.

    • Sarvenaz Sarabipour
    • Paul Macklin
    • Natalie M. Niemi
    Comments & Opinion
    Nature Human Behaviour
    Volume: 8, P: 1228-1231

  • A genome-wide association study suggests 41 previously unreported loci on top of the 23 known loci that influence the disease risk for lumbar disc herniations. Many of these loci harbour genes implicated in disc structure and inflammation, as well as genes related to the nervous system and nerve function.

    • Ville Salo
    • Juhani Määttä
    • Johannes Kettunen
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-14

  • Identifying women at high risk of breast cancer has important implications for screening. Here, the authors demonstrate that polygenic risk scores improve breast cancer risk prediction in the population, in women with mutations in high-risk genes and in women with close relatives with the disease.

    • Nina Mars
    • Elisabeth Widén
    • Samuli Ripatti
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-9

  • Many genetic factors that contribute to uterine leiomyomata (UL) - the most common tumours of the female genital tract - remain to be discovered. Here, the authors conduct a UL meta-genome-wide association study, and find loci related to altered muscle tissue biology that are associated with UL.

    • Eeva Sliz
    • Jaakko S. Tyrmi
    • Johannes Kettunen
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-14

  • The largest meta-analysis of GWASs of hepcidin and sTfR identified 43 genomic loci, of which 15 new. Mendelian randomisation revealed associations of systemic iron status and iron-related loci with selected health outcomes across multiple domains.

    • Elias Allara
    • Steven Bell
    • Emanuele Di Angelantonio
    ResearchOpen Access
    Communications Biology
    Volume: 7, P: 1-17

  • Max Tamlander et al. combine polygenic risk scores and clinical assessments to improve prediction of coronary artery disease and type 2 diabetes in European cohorts. Taken together, their results provide a useful method for preliminary cardiometabolic risk assessment in patients.

    • Max Tamlander
    • Nina Mars
    • Samuli Ripatti
    ResearchOpen Access
    Communications Biology
    Volume: 5, P: 1-13