Sini Ezer

Fetal Pathogenesis of Scoliosis Suggested by Asymmetry of Gene Expression in Paravertebral Muscles

Tian Cheng, Yazgeldi Gamze, Elísabet Einarsdóttir, Sini Ezer et autres

Background: The dysfunction of paravertebral muscles may contribute to the development of idiopathic scoliosis. Several candidate genes have been linked to scoliosis, but the underlying mechanisms and cell types remain unclear. Methods: We initially included 40 idiopathic scoliosis cases and 19 controls. …

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Host gene expression analysis in the detection of bacterial and viral etiology in children hospitalized with a suspected severe infection

Ruut Piri, Milla Valta, Johanna Lempainen, Lauri Ivaska et autres

Host gene expression profiling holds great potential in improving the differential diagnostics of bacterial and viral infections. We investigated its discriminative value in children with suspected serious infections. Peripheral blood gene expression profiles were analyzed by RNA sequencing in 268 children aged …

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The DoGA Consortium Atlas of Canine Enhancers and Promoters Across Tissues and Development

Carsten O. Daub, Işıl Takan, Matthias Hörtenhuber, Noora Salokorpi et autres

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The DoGA Consortium Atlas of Canine Enhancers and Promoters Across Tissues and Development

Işıl Takan, Matthias Hörtenhuber, Noora Salokorpi, Rijja Hussain Bokhari et autres

Abstract The domestic dog is a powerful genetic model for complex traits, disease and behaviours relevant to human biology, yet the canine genome still lacks a systematic transcription-defined atlas of regulatory elements. Existing resources have improved annotation but largely infer regulatory activity …

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Fast and Slow Gene Expression Changes in Blood Following Acute Social Stress

Hampus Karl-Otto Gronvall, Sylvia Abdelhalim, Fara Tabrizi, Sini Ezer et autres

Abstract Social stress is a risk factor for psychiatric disorders and also influences immune function. While it is known that acute social stress impacts the number of immune cells in circulation, the temporal dynamics of stress induced immune-related transcriptional changes in human …

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Signs of immune dysregulation in second-trimester maternal blood RNA profiles in late-onset preeclampsia

Yazgeldi Gamze, Sini Ezer, Juho Wedenoja, Katri Räikkönen et autres

Preeclampsia (PE) is a hypertensive disorder that affects 5% of pregnancies. It is characterized by new-onset hypertension and proteinuria after 20 weeks of gestation. We investigated maternal second-trimester peripheral blood gene expression profiles to identify potential biomarkers for predicting late-onset PE. We …

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The DoGA consortium expression atlas of promoters and genes in 100 canine tissues

Matthias Hörtenhuber, Marjo K. Hytönen, Abdul Kadir Mukarram, Meharji Arumilli et autres

The dog, Canis lupus familiaris, is an important model for studying human diseases. Unlike many model organisms, the dog genome has a comparatively poor functional annotation, which hampers gene discovery for development, morphology, disease, and behavior. To fill this gap, we established …

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Primary cilia promote the differentiation of human neurons through the WNT signaling pathway

Andrea Coschiera, Masahito Yoshihara, Gilbert Lauter, Sini Ezer et autres

BACKGROUND: Primary cilia emanate from most human cell types, including neurons. Cilia are important for communicating with the cell's immediate environment: signal reception and transduction to/from the ciliated cell. Deregulation of ciliary signaling can lead to ciliopathies and certain neurodevelopmental disorders. In …

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Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human

Julia E. Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller et autres

BACKGROUND: Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiology; however, as a complex disease, the exact …

fi, se, ch, nl, gb, si, ca, de (code pays fourni par la source)

Optimized single-cell RNA sequencing protocol to study early genome activation in mammalian preimplantation development

Nina Boskovic, Yazgeldi Gamze, Sini Ezer, Mari Tervaniemi et autres

Here, we present a modification of single-cell tagged reverse transcription protocol to study gene expression on a single-cell level or with limited RNA input. We describe different enzymes for reverse transcription and cDNA amplification, modified lysis buffer, and additional clean-up steps before …

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Primary cilia promote the differentiation of human neurons through the WNT signaling pathway

Andrea Coschiera, Masahito Yoshihara, Gilbert Lauter, Sini Ezer et autres

ABSTRACT Primary cilia emanate from most human cell types, including neurons. Cilia are important for communicating with the cell’s immediate environment: signal reception and transduction to/from the ciliated cell. Deregulation of ciliary signaling can lead to ciliopathies and certain neurodevelopmental disorders. In …

se, jp, fi (code pays fourni par la source)

Viral infection‐related gene upregulation in monocytes in children with signs of β‐cell autoimmunity

Milla Valta, Masahito Yoshihara, Elísabet Einarsdóttir, Sirpa Pahkuri et autres

OBJECTIVE: The pathogenesis of type 1 diabetes (T1D) is associated with genetic predisposition and immunological changes during presymptomatic disease. Differences in immune cell subset numbers and phenotypes between T1D patients and healthy controls have been described; however, the role and function of …

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