Timo J. ter Braak

Molecular Insights Into the Natural History of Anal HSIL

Aude Jary, Ramon P van der Zee, Vita W. Jongen, Timo J. ter Braak et autres

Anal squamous cell carcinoma is commonly associated with human papillomavirus (HPV) infection and preceded by low- and high-grade anal lesions (LSIL; HSIL). We performed a molecular comparison on paired LSIL- and HSIL-lesions collected in a longitudinal fashion to assess their relationship. Fifty …

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DNA Methylation Analysis on Anal Swabs for Anal Cancer Screening in People Living With Human Immunodeficiency Virus

Fernando Dias Gonçalves Lima, Kirsten Rozemeijer, Ramon P van der Zee, Stèfanie Dick et autres

BACKGROUND: High-resolution anoscopy (HRA) to prevent anal cancer is complex and screening capacity is limited. Previously, DNA methylation analysis of anal high-grade squamous intraepithelial lesion (HSIL) biopsies was shown to distinguish between HSIL with an increased and a low cancer risk, supporting …

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Analytical validation and diagnostic performance of the ASCL1/ZNF582 methylation test for detection of high-grade anal intraepithelial neoplasia and anal cancer

Kirsten Rozemeijer, Fernando Dias Gonçalves Lima, Timo J. ter Braak, Albertus T. Hesselink et autres

DNA methylation testing on biopsies can detect high-grade anal intraepithelial neoplasia (HGAIN) in need of treatment and anal cancer. This study aimed to analytically validate and determine the diagnostic performance of a newly developed multiplex quantitative methylation-specific PCR, PreCursor-M AnoGYN(RUO), combining ASCL1, …

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Detection of non-metastatic non-small-cell lung cancer in urine by methylation-specific PCR analysis: A feasibility study

Birgit M. M. Wever, Sander Bach, Marco Tibbesma, Timo J. ter Braak et autres

BACKGROUND: Lung cancer has the highest cancer-related mortality worldwide and earlier detection could improve outcomes. Urine circulating tumor DNA (ctDNA) represents a true non-invasive means for ambulant sample collection. In this prospective study, the potential of urine for perioperative detection of non-metastatic …

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DNA methylation markers have universal prognostic value for anal cancer risk in HIV‐negative and HIV‐positive individuals

Ramon P van der Zee, Carel J.M. van Noesel, Ivonne Martin, Timo J. ter Braak et autres

Anal cancer has increasing incidence and is preceded by high-grade anal intraepithelial neoplasia (HGAIN; AIN2-3). Previously, we identified and validated several methylation markers for accurate detection of anal cancer and HGAIN with cancer risk in HIV-positive (HIV+) men who have sex with …

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Author response for "DNA methylation markers have universal prognostic value for anal cancer risk in HIV-negative and HIV-positive individuals"

Ramon P van der Zee, Carel J.M. van Noesel, Ivonne Martin, Timo J. ter Braak et autres

Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver

Lisanne E. Wisse, Denise Visser, Timo J. ter Braak, Abdellatif Bakkali et autres

Objective: Vanishing white matter (VWM) is a genetic brain white matter disorder caused by mutations in eIF2B. eIF2B is central in the integrated stress response (ISR), during which its activity is inhibited by various cellular stresses. VWM is a chronic progressive disease …

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Cancer Risk Stratification of Anal Intraepithelial Neoplasia in Human Immunodeficiency Virus–Positive Men by Validated Methylation Markers Associated With Progression to Cancer

Ramon P van der Zee, Olivier Richel, Carel J.M. van Noesel, Iuliana Ciocănea‐Teodorescu et autres

BACKGROUND: High-grade anal intraepithelial neoplasia (HGAIN; AIN2-3) is highly prevalent in HIV+ men, but only a minority of these lesions progress towards cancer. Currently, cancer progression risk cannot be established; therefore, no consensus exists on whether HGAIN should be treated. This study …

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Vanishing white matter: deregulated integrated stress response as therapy target

Truus E. M. Abbink, Lisanne E. Wisse, Ermelinda Jaku, Michiel J. Thiecke et autres

OBJECTIVE: Vanishing white matter (VWM) is a fatal, stress-sensitive leukodystrophy that mainly affects children and is currently without treatment. VWM is caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B) that is crucial for initiation of mRNA translation and its regulation …

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Integrated Stress Response Deregulation underlies Vanishing White Matter and is a target for therapy

Truus E. M. Abbink, Lisanne E. Wisse, Ermelinda Jaku, Michiel J. Thiecke et autres

Abstract Vanishing white matter (VWM) is a fatal, stress-sensitive leukodystrophy that mainly affects children and is currently without treatment. VWM is caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B) that is crucial for initiation of mRNA translation and its regulation …

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Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro

Lisanne E. Wisse, Timo J. ter Braak, Malu-Clair van de Beek, Carola G.M. van Berkel et autres

Abstract Vanishing white matter (VWM) is a genetic childhood white matter disorder, characterized by chronic as well as episodic, stress provoked, neurological deterioration. Treatment is unavailable and patients often die within a few years after onset. VWM is caused by recessive mutations …

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Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions

Lisanne E. Wisse, Renske Penning, Esther A. Zaal, Carola G.M. van Berkel et autres

Vanishing white matter (VWM) is a leukodystrophy with predominantly early-childhood onset. Affected children display various neurological signs, including ataxia and spasticity, and die early. VWM patients have bi-allelic mutations in any of the five genes encoding the subunits of the eukaryotic translation …

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