Browsing Department of Clinical Science by Title
Now showing items 862-881 of 2374
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Gene expression response in peripheral blood cells of petroleum workers exposed to sub-ppm benzene levels
(Peer reviewed; Journal article, 2018-10-27)Altered gene expression in pathways relevant to leukaemogenesis, as well as reduced levels of circulating lymphocytes, have been reported in workers that were exposed to benzene concentrations below 1 ppm. In this study, ... -
Gene Methylation and Silencing of WIF1 Is a Frequent Genetic Abnormality in Mantle Cell Lymphoma
(Journal article; Peer reviewed, 2021)We have previously shown that the Wnt canonical pathway (WCP) is constitutively active in most cases of mantle cell lymphoma (MCL). Here, we aimed to elucidate the mechanisms underlying this biochemical deregulation. We ... -
A gene signature identifying CIN3 regression and cervical cancer survival
(Journal article; Peer reviewed, 2021-11-16)The purpose of this study was to establish a gene signature that may predict CIN3 regression and that may aid in selecting patients who may safely refrain from conization. Oncomine mRNA data including 398 immune-related ... -
Generating a Precision Endoxifen Prediction Algorithm to Advance Personalized Tamoxifen Treatment in Patients with Breast Cancer
(Journal article; Peer reviewed, 2021)Tamoxifen is an endocrine treatment for hormone receptor positive breast cancer. The effectiveness of tamoxifen may be compromised in patients with metabolic resistance, who have insufficient metabolic generation of the ... -
Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma
(Journal article; Peer reviewed, 2022)Introduction: Malignant peripheral nerve sheath tumor of the vestibulocochlear nerve (VN-MPNST) is exceedingly rare and carries a poor prognosis. Little is known about its underlying genetics and in particular the process ... -
Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
(Journal article; Peer reviewed, 2020)Objectives Clinical presentation of primary Sjögren’s syndrome (pSS) varies considerably. A shortage of evidence-based objective markers hinders efficient drug development and most clinical trials have failed to reach ... -
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 ... -
The genetic architecture of the human cerebral cortex
(Journal article; Peer reviewed, 2020)INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be ... -
Genetic biomarkers as prognostic and predictive factors in metastatic malignant melanoma
(Doctoral thesis, 2010-10-26)Malignant melanoma is one of the most chemoresistant malignancies in man. Although effort is put into developing new drugs to treat metastatic melanoma, still dacarbazine, an alkylating agent approved in 1975 for therapeutic ... -
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)
(Peer reviewed; Journal article, 2015)General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health- and well-being-related trait ... -
Genetic control of variability in subcortical and intracranial volumes
(Journal article; Peer reviewed, 2020)Sensitivity to external demands is essential for adaptation to dynamic environments, but comes at the cost of increased risk of adverse outcomes when facing poor environmental conditions. Here, we apply a novel methodology ... -
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 determinants of macrolide and tetracycline resistance in penicillin non-susceptible Streptococcus pneumoniae isolates from people living with HIV in Dar es Salaam, Tanzania
(Journal article; Peer reviewed, 2023-02-20)Background: Over one million yearly deaths are attributable to Streptococcus pneumoniae and people living with HIV are particularly vulnerable. Emerging penicillin non-susceptible Streptococcus pneumoniae (PNSP) challenges ... -
Genetic diversity in the metronidazole metabolism genes nitroreductases and pyruvate ferredoxin oxidoreductases in susceptible and refractory clinical samples of Giardia lamblia
(Journal article; Peer reviewed, 2023)The effectiveness of metronidazole against the tetraploid intestinal parasite Giardia lamblia is dependent on its activation/inactivation within the cytoplasm. There are several activating enzymes, including pyruvate ... -
Genetic diversity of circulating rotavirus strains in Tanzania prior to the introduction of vaccination
(Peer reviewed; Journal article, 2014-05-20)Background: Tanzania currently rolls out vaccination against rotavirus-diarrhea, a major cause of child illness and death. As the vaccine covers a limited number of rotavirus variants, this study describes the molecular ... -
Genetic diversity of the flavohemoprotein gene of Giardia lamblia: Evidence for high allelic heterozygosity and copy number variation
(Journal article; Peer reviewed, 2020)Purpose: The flavohemoprotein (gFlHb) in Giardia plays an important role in managing nitrosative and oxidative stress, and potentially also in virulence and nitroimidazole drug tolerance. The aim of this study was to analyze ... -
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
(Journal article; Peer reviewed, 2021)Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ... -
Genetic effects on the timing of parturition and links to fetal birth weight
(Journal article; Peer reviewed, 2023)The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,555), ... -
Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development
(Peer reviewed; Journal article, 2019)The development of cancer is driven by the accumulation of many oncogenesis-related genetic alterationsand tumorigenesis is triggered by complex networks of involved genes rather than independent actions. To explore the ...