Search Results - "Visser, Mijke"

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter by Visser, Mijke, Kayser, Manfred, Palstra, Robert-Jan

“…Pigmentation of skin, eye, and hair reflects some of the most evident common phenotypes in humans. Several candidate genes for human pigmentation are…”
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Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene by Visser, Mijke, Palstra, Robert-Jan, Kayser, Manfred

“…Single nucleotide polymorphisms (SNPs) found to be statistically significant when associated with human diseases, and other phenotypes are most often located…”
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Development of mAb-based polyglutamine-dependent and polyglutamine length-independent huntingtin quantification assays with cross-site validation by Fischer, David F, Dijkstra, Sipke, Lo, Kimberly, Suijker, Johnny, Correia, Ana C P, Naud, Patricia, Poirier, Martin, Tessari, Michela A, Boogaard, Ivette, Flynn, Geraldine, Visser, Mijke, Lamers, Marieke B A C, McAllister, George, Munoz-Sanjuan, Ignacio, Macdonald, Douglas

“…Huntington's disease (HD) is caused by an expansion of the CAG trinucleotide repeat domain in the huntingtin gene that results in expression of a mutant…”
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mRNA-based skin identification for forensic applications by Visser, Mijke, Zubakov, Dmitry, Ballantyne, Kaye N., Kayser, Manfred

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Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter by Visser, Mijke, Palstra, Robert-Jan, Kayser, Manfred

“…The majority of significant single-nucleotide polymorphisms (SNPs) identified with genome-wide association studies are located in non-coding regions of the…”
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A multiplex (m)RNA-profiling system for the forensic identification of body fluids and contact traces by Lindenbergh, Alexander, de Pagter, Mirjam, Ramdayal, Geeta, Visser, Mijke, Zubakov, Dmitry, Kayser, Manfred, Sijen, Titia

“…Abstract In current forensic practice, information about the possible biological origin of forensic traces is mostly determined using protein-based presumptive…”
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NEK11 as a candidate high-penetrance melanoma susceptibility gene by Christodoulou, Eirini, van Doorn, Remco, Visser, Mijke, Teunisse, Amina, Versluis, Mieke, van der Velden, Pieter, Hayward, Nicholas K, Jochemsen, Aart, Gruis, Nelleke

“…A proportion of patients diagnosed with cutaneous melanoma reports a positive family history. Inherited variants in and several other genes have been shown to…”
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I09 A Huntington’s disease embryonic stem cell phenotypic hts to identify small molecule modulators of mutant huntingtin by Todd, Daniel, Stebbeds, Marta, Thatcher, Emma, Barnard, Amy, Anton, Jeremy, Sienerth, Arnold, Visser, Mijke, Mitchell, Philip, Breccia, Perla, Smith, David, McAllister, George, Haque, Tasir, Liu, Longbin, Dominguez, Celia, Munoz-Sanjuan, Ignacio

“…Huntington’s disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline. HD is caused by a…”
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Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up by Liu, Fan, Visser, Mijke, Duffy, David L., Hysi, Pirro G., Jacobs, Leonie C., Lao, Oscar, Zhong, Kaiyin, Walsh, Susan, Chaitanya, Lakshmi, Wollstein, Andreas, Zhu, Gu, Montgomery, Grant W., Henders, Anjali K., Mangino, Massimo, Glass, Daniel, Bataille, Veronique, Sturm, Richard A., Rivadeneira, Fernando, Hofman, Albert, van IJcken, Wilfred F. J., Uitterlinden, André G., Palstra, Robert-Jan T. S., Spector, Timothy D., Martin, Nicholas G., Nijsten, Tamar E. C., Kayser, Manfred

“…In the International Visible Trait Genetics (VisiGen) Consortium, we investigated the genetics of human skin color by combining a series of genome-wide…”
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mRNA-based skin identification for forensic applications by Visser, Mijke, Zubakov, Dmitry, Ballantyne, Kaye N., Kayser, Manfred

“…Although the identification of human skin cells is of important relevance in many forensic cases, there is currently no reliable method available. Here, we…”
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Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013–2018) by Visser, Mijke, van der Stoep, Nienke, Gruis, Nelleke

“…Besides high and moderate risk factors, genome-wide association studies (GWAS) in predominantly sporadic melanoma cohorts identified important, common genetic…”
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Identification and Optimization of RNA-Splicing Modulators as Huntingtin Protein-Lowering Agents for the Treatment of Huntington’s Disease by Liu, Longbin, Malagu, Karine, Haughan, Alan F., Khetarpal, Vinod, Stott, Andrew J., Esmieu, William, Vater, Huw D., Webster, Stephen J., Van de Poël, Amanda J., Clissold, Cole, Cosgrove, Brett, Sutton, Benjamin, Spencer, Jonathan A., Breccia, Perla, Gancia, Emanuela, Bonomo, Silvia, Ladduwahetty, Tammy, Lazari, Ovadia, Patel, Hiral, Atton, Helen C., Clifton, Steve, Mota, Daniel M., Magnani, Dario, O’Neill, Amy, Stebbeds, Marta, Macabuag, Natsuko, Todd, Daniel, Herva, Maria E., Mitchell, Philip, Visser, Mijke, Compte Sancerni, Sara, Grand Moursel, Laure, da Silva, Marta, Kritikou, Eva, Heikkinen, Taneli T., Bolkvadze, Tamuna, Fodale, Valentina, Spadafora, Debora, Daldin, Manuel, Bresciani, Alberto, Mangette, John E., Doherty, Elizabeth M., Lee, Matthew R., Herbst, Todd, Monteagudo, Edith, Macdonald, Douglas, Plotnikov, Nikolay V., Chambers, Mark, McAllister, George, Muňoz-Sanjuan, Ignacio, Dominguez, Celia

“…Huntington’s disease (HD) is caused by an expanded CAG trinucleotide repeat in exon 1 of the huntingtin (HTT) gene. We report the design of a series of HTT…”
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Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation by Visser, Mijke, Kayser, Manfred, Grosveld, Frank, Palstra, Robert-Jan

“…Summary Mutations within the OCA2 gene or the complete absence of the OCA2 protein leads to oculocutaneous albinism type 2. The OCA2 protein plays a central…”
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A novel germline variant in the DOT1L gene co-segregating in a Dutch family with a history of melanoma by Salgado, Catarina, Kwesi-Maliepaard, Eliza Mari, Jochemsen, Aart G., Visser, Mijke, Harland, Mark, van Leeuwen, Fred, van Doorn, Remco, Gruis, Nelleke

“…A proportion of patients diagnosed with melanoma has a positive family history. Despite increasing knowledge on the genes responsible for familial clustering,…”
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Genetic variation in regulatory DNA elements: the case of OCA 2 transcriptional regulation by Visser, Mijke, Kayser, Manfred, Grosveld, Frank, Palstra, Robert‐Jan

“…Summary Mutations within the OCA 2 gene or the complete absence of the OCA 2 protein leads to oculocutaneous albinism type 2. The OCA 2 protein plays a central…”
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Apoptin : Therapeutic Potential of an Early Sensor of Carcinogenic Transformation by BACKENDORF, Claude, VISSER, Astrid E, DE BOER, A. G, ZIMMERMAN, Rhyenne, VISSER, Mijke, VOSKAMP, Patrick, ZHANG, Ying-Hui, NOTEBORN, Mathieu

“…The avian virus-derived protein apoptin induces p53-independent apoptosis in a tumor-specific way. Apoptin acts as a multimeric complex and forms…”
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