Browsing Faculty of Medicine by Journals "Nature Communications"
Now showing items 1-20 of 58
-
AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion
(Journal article; Peer reviewed, 2020)The infiltrative nature of Glioblastoma (GBM), the most aggressive primary brain tumor, critically prevents complete surgical resection and masks tumor cells behind the blood brain barrier reducing the efficacy of systemic ... -
Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation
(Peer reviewed; Journal article, 2019-06-03)Accumulating evidence from genome wide association studies (GWAS) suggests an abundance of shared genetic influences among complex human traits and disorders, such as mental disorders. Here we introduce a statistical tool, ... -
C/EBPB-dependent adaptation to palmitic acid promotes tumor formation in hormone receptor negative breast cancer
(Journal article; Peer reviewed, 2022)Epidemiological studies have established a positive association between obesity and the incidence of postmenopausal breast cancer. Moreover, it is known that obesity promotes stem cell-like properties of breast cancer ... -
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
(Journal article; Peer reviewed, 2021)Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ... -
Deciphering the complex role of thrombospondin-1 in glioblastoma development
(Peer reviewed; Journal article, 2019-03-08)We undertook a systematic study focused on the matricellular protein Thrombospondin-1 (THBS1) to uncover molecular mechanisms underlying the role of THBS1 in glioblastoma (GBM) development. THBS1 was found to be increased ... -
Deep 2-photon imaging and artifact-free optogenetics through transparent graphene microelectrode arrays
(Peer reviewed; Journal article, 2018-05-23)Recent advances in optical technologies such as multi-photon microscopy and optogenetics have revolutionized our ability to record and manipulate neuronal activity. Combining optical techniques with electrical recordings ... -
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease
(Peer reviewed; Journal article, 2016-11-22)Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates in the human brain with aging and neurodegenerative disorders such as Parkinson disease (PD). Here, we ... -
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
(Journal article; Peer reviewed, 2023)Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with ... -
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
(Journal article; Peer reviewed, 2021)Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. ... -
Distinct receptor binding domain IgG thresholds predict protective host immunity across SARS-CoV-2 variants and time
(Journal article; Peer reviewed, 2023)SARS-CoV-2 neutralising antibodies provide protection against COVID-19. Evidence from early vaccine trials suggested binding antibody thresholds could serve as surrogate markers of neutralising capacity, but whether these ... -
DNA methylation in newborns conceived by assisted reproductive technology
(Journal article; Peer reviewed, 2022)Assisted reproductive technology (ART) may affect fetal development through epigenetic mechanisms as the timing of ART procedures coincides with the extensive epigenetic remodeling occurring between fertilization and embryo ... -
The DNA methylome of cervical cells can predict the presence of ovarian cancer
(Journal article; Peer reviewed, 2022)The vast majority of epithelial ovarian cancer arises from tissues that are embryologically derived from the Müllerian Duct. Here, we demonstrate that a DNA methylation signature in easy-to-access Müllerian Duct-derived ... -
Early response evaluation by single cell signaling profiling in acute myeloid leukemia
(Journal article; Peer reviewed, 2023)Aberrant pro-survival signaling is a hallmark of cancer cells, but the response to chemotherapy is poorly understood. In this study, we investigate the initial signaling response to standard induction chemotherapy in a ... -
Estimating the burden of severe malarial anaemia and access to hospital care in East Africa
(Journal article; Peer reviewed, 2023)Severe malarial anaemia can be fatal if not promptly treated. Hospital studies may under-represent the true burden because cases often occur in settings with poor access to healthcare. We estimate the relationship of ... -
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
(Journal article; Peer reviewed, 2023)Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery ... -
The genetic architecture of human brainstem structures and their involvement in common brain disorders
(Journal article, 2020)Brainstem regions support vital bodily functions, yet their genetic architectures and involvement in common brain disorders remain understudied. Here, using imaging-genetics data from a discovery sample of 27,034 individuals, ... -
The genetic architecture of sporadic and multiple consecutive miscarriage
(Journal article; Peer reviewed, 2020)Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic ... -
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults
(Journal article; Peer reviewed, 2020)Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these ... -
Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
(Journal article; Peer reviewed, 2020)Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate ... -
Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells
(Journal article; Peer reviewed, 2022)Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of ...