Ou, Jianghua, Rasmussen, Merete, Westers, Helga, Andersen, Sofie D., Jager, Paul O., Kooi, Krista A., ...
So far 18 MLH3 germline mutations/variants have been identified in familial colorectal cancer cases. Sixteen of these variants are amino acid substitutions of which the pathogenic nature is still...
Survival-Related Profile, Pathways, and Transcription Factors in Ovarian Cancer (2009)
Crijns, Anne P.G., Fehrmann, Rudolf S.N., Jong, Steven De, Gerbens, Frans, Meersma, Gert Jan, Klip, Harry G., ...
Background: Ovarian cancer has a poor prognosis due to advanced stage at presentation and either intrinsic or acquired resistance to classic cytotoxic drugs such as platinum and taxoids. Recent large...
C. elegans Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During Aging (2008)
Ham, Tjakko J. Van, Thijssen, Karen L., Breitling, Rainer, Hofstra, Robert M.W., Plasterk, Ronald H.A., Nollen, Ellen A.A.
Inclusions in the brain containing α-synuclein are the pathological hallmark of Parkinson’s disease, but how these inclusions are formed and how this links to disease is poorly understood. We have...
A New Perspective on Transcriptional System Regulation (TSR): Towards TSR Profiling (2008)
Fehrmann, Rudolf S.N., Elst, Arja Ter, Vries, André De, Crijns, Anne G.P., Weidenaar, Alida C., ...
It has been hypothesized that the net expression of a gene is determined by the combined effects of various transcriptional system regulators (TSRs). However, characterizing the complexity of...
Magee, Anthony I., Gimm, Oliver, Hollema, Harry, Sluis, Tineke Van Der, Plaza-Menacho, Iván, ...
The precise role of STAT3 Ser727 phosphorylation in RET-mediated cell transformation and oncogenesis is not well understood. In this study, we have shown that familial medullary thyroid carcinoma...
Evidence Based Selection of Housekeeping Genes (2007)
Fehrmann, Rudolf S.N., Hofstra, Robert M.W., Gerbens, Frans, Kamps, Willem A., ...
For accurate and reliable gene expression analysis, normalization of gene expression data against housekeeping genes (reference or internal control genes) is required. It is known that commonly used...
Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene (2007)
Tintelen, J. Peter Van, Tio, Rene A., Kerstjens-Frederikse, Wilhelmina S., Berlo, Jop H. Van, Boven, Ludolf G., Suurmeijer, Albert J.H., ...
Objectives: The goal of this study was to identify the underlying gene defect in a family with inherited myocardial fibrosis. Background: A large family with an autosomal dominantly inherited form of...
Current concepts in RET-related genetics, signaling and therapeutics (2006)
Eggen, Bart J.L., Groot, Jan Willem De, Burzynski, Grzegorz M., Plaza-Menacho, Ivan, Hofstra, Robert M.W.
The receptor tyrosine kinase RET is expressed in cell lineages derived from the neural crest and has a key role in regulating cell proliferation, migration, differentiation and survival during...
Crijns, Anne P.G., Gerbens, Frans, Plantinga, A. Edo D., Meersma, Gert Jan, Jong, Steven De, Hofstra, Robert M.W., ...
Background: Factor analysis (FA) has been widely applied in microarray studies as a data-reduction-tool without any a-priori assumption regarding associations between observed data and latent...
Plaza Menacho, Ivan, Koster, Roelof, Quax, Wim J., Osinga, Jan, Sluis, Tineke Van Der, ...
The RET proto-oncogene encodes a receptor tyrosine kinase whose dysfunction plays a crucial role in the development of several neural crest disorders. Distinct activating RET mutations cause multiple...
The Human Leukocyte Antigen Region and Colorectal Cancer Risk (2005)
Jong, Mirjam M. De, Niens, Marijke, Nolte, Ilja M., Meerman, Gerard J. Te, Mulder, Marcel J., ...
Recently, we found a certain haplotype in the human leukocyte antigen Class III subregion to be associated with breast cancer. Epidemiologic studies have shown that breast cancer and colorectal...
Colorectal Cancer and the CHEK2 1100delC Mutation (2005)
Jong, Mirjam M. De, Nolte, Ilja M., Meerman, Gerard J. Te, Mulder, Marcel J., Steege, Gerrit Van Der, ...
The CHEK2 1100delC mutation was recently identified as a low-penetrance breast cancer susceptibility allele. The mutation occurred more frequently in families with clustering of breast and colorectal...
No association between two MLH3 variants (S845G and P844L) and colorectal cancer risk (2004)
Jong, Mirjam M. De, Hofstra, Robert M.W., Kooi, Krista A., Westra, Jantine L., Berends, Maran J.W., Wu, Ying, ...
Recently we identified a new variant, S845G, in the MLH3 gene in 7 out of 327 patients suspected of hereditary nonpolyposis colorectal cancer but not fulfilling the Amsterdam criteria and in 1 out of...
Oliveira, Carla, Westra, Jantine L., Arango, Diego, Ollikainen, Miina, Domingo, Enric, Ferreira, Ana, ...
In sporadic colorectal tumours the BRAFV600E is associated with microsatellite instability (MSI-H) and inversely associated to KRAS mutations. Tumours from hereditary non-polyposis colorectal cancer...
Low-penetrance Genes and Their Involvement in Colorectal Cancer Susceptibility (2002)
Jong, Mirjam M. De, Nolte, Ilja M., Meerman, Gerard J. Te, Sijmons, Rolf H., ...
This report focuses on low-penetrance genes that are associated with colorectal adenoma and/or cancer or that are in strong linkage disequilibrium with colorectal adenoma and/or cancer causing...
Boon, Maartje, Nolte, Ilja M., Bruinenberg, Marcel, Spijker, Geert T., Terpstra, Peter, Raelson, John, ...
Multiple sclerosis (MS) is a complex disease that is partly genetic in origin. Although an association of MS with specific human leukocyte antigen (HLA) types has been known for almost 30 years, the...
Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...
Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...
Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...
Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...
Wu, Ying, Berends, Maran J. W., Mensink, Rob G. J., Kempinga, Claudia, Sijmons, Rolf H., Van der Zee, Ate G. J., ...
Hereditary nonpolyposis colorectal cancer (HNPCC) (Amsterdam criteria) is often caused by mutations in mismatch repair (MMR) genes, and tumors of patients with HNPCC show microsatellite instability...
Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...
Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...
Berends, Maran J. W., Wu, Ying, Sijmons, Rolf H., Mensink, Rob G. J., Van der Sluis, Tineke, Hordijk-Hos, Jannet M., ...
The MSH6 gene is one of the mismatch-repair genes involved in hereditary nonpolyposis colorectal cancer (HNPCC). Three hundred sixteen individuals who were known or suspected to have HNPCC were...
Identifying Candidate Hirschsprung Disease–Associated RET Variants
Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, ...
Patients with sporadic Hirschsprung disease (HSCR) show increased allele sharing at markers in the 5′ region of the RET locus, indicating the presence of a common ancestral RET mutation. In a...
Brooks, Alice S., Bertoli-Avella, Aida M., Burzynski, Grzegorz M., Breedveld, Guido J., Osinga, Jan, Boven, Ludolf G., ...
We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic features of GOSHS in this inbred family...
Wu, Ying, Berends, Maran J. W., Mensink, Rob G. J., Kempinga, Claudia, Sijmons, Rolf H., Van der Zee, Ate G. J., ...
Hereditary nonpolyposis colorectal cancer (HNPCC) (Amsterdam criteria) is often caused by mutations in mismatch repair (MMR) genes, and tumors of patients with HNPCC show microsatellite instability...
Evidence Based Selection of Housekeeping Genes
Fehrmann, Rudolf S. N., Hofstra, Robert M. W., Gerbens, Frans, Kamps, Willem A., ...
For accurate and reliable gene expression analysis, normalization of gene expression data against housekeeping genes (reference or internal control genes) is required. It is known that commonly used...
A New Perspective on Transcriptional System Regulation (TSR): Towards TSR Profiling
Fehrmann, Rudolf S. N., Ter Elst, Arja, De Vries, André, Crijns, Anne G. P., Weidenaar, Alida C., ...
It has been hypothesized that the net expression of a gene is determined by the combined effects of various transcriptional system regulators (TSRs). However, characterizing the complexity of...
C. elegans Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During Aging
Van Ham, Tjakko J., Thijssen, Karen L., Breitling, Rainer, Hofstra, Robert M. W., Plasterk, Ronald H. A., Nollen, Ellen A. A.
Inclusions in the brain containing α-synuclein are the pathological hallmark of Parkinson's disease, but how these inclusions are formed and how this links to disease is poorly understood. We have...
Survival-Related Profile, Pathways, and Transcription Factors in Ovarian Cancer
Crijns, Anne P. G, Fehrmann, Rudolf S. N, De Jong, Steven, Gerbens, Frans, Meersma, Gert Jan, Klip, Harry G, ...
Ate van der Zee and colleagues analyze the gene expression profiles of ovarian cancer samples from 157 patients, and identify an 86-gene expression profile that seems to predict overall survival.