Search Results - "Bronk, Marieke"

Constitutive E2F1 Overexpression Delays Endochondral Bone Formation by Inhibiting Chondrocyte Differentiation by Scheijen, Blanca, Bronk, Marieke, van der Meer, Tiffany, Bernards, René

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High Incidence of Thymic Epithelial Tumors in E2F2 Transgenic Mice by Scheijen, Blanca, Bronk, Marieke, van der Meer, Tiffany, De Jong, Daphne, Bernards, René

“…In virtually all human tumors, genetic and epigenetic alterations have been found which affect the INK4/-CYCLIN D/RB pathway, which regulates cell cycle entry…”
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Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy by Jansweijer, Joeri A., Nieuwhof, Karin, Russo, Francesco, Hoorntje, Edgar T., Jongbloed, Jan D.H., Lekanne Deprez, Ronald H., Postma, Alex V., Bronk, Marieke, van Rijsingen, Ingrid A.W., de Haij, Simone, Biagini, Elena, van Haelst, Paul L., van Wijngaarden, Jan, van den Berg, Maarten P., Wilde, Arthur A.M., Mannens, Marcel M.A.M., de Boer, Rudolf A., van Spaendonck‐Zwarts, Karin Y., van Tintelen, J. Peter, Pinto, Yigal M.

“…Aims Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet…”
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Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities by Weterman, Marian A J, Kuo, Molly, Kenter, Susan B, Gordillo, Sara, Karjosukarso, Dyah W, Takase, Ryuichi, Bronk, Marieke, Oprescu, Stephanie, van Ruissen, Fred, Witteveen, Ron J W, Bienfait, Henriette M E, Breuning, Martijn, Verhamme, Camiel, Hou, Ya-Ming, de Visser, Marianne, Antonellis, Anthony, Baas, Frank

“…Abstract Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical…”
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Pathogenic variants in three families with distal muscle involvement by Weterman, Marian A.J., Bronk, Marieke, Jongejan, Aldo, Hoogendijk, Jessica E., Krudde, Judith, Karjosukarso, Dyah, Goebel, Hans H., Aronica, Eleonora, Jöbsis, G. Joost, van Ruissen, Fred, van Spaendonck-Zwarts, Karin Y., de Visser, Marianne, Baas, Frank

“…•Identification of the cause of disease in three large families with distal muscle involvement.•MYH7 tail mutations cause a neuropathy-like phenotype.•MYH7…”
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Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy by Kapferer-Seebacher, Ines, Waisfisz, Quinten, Boesch, Sylvia, Bronk, Marieke, van Tintelen, Peter, Gizewski, Elke R., Groebner, Rebekka, Zschocke, Johannes, van der Knaap, Marjo S.

“…Here, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers–Danlos syndrome, a rare disease…”
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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations by van Paassen, Barbara W., Bronk, Marieke, Verhamme, Camiel, van Ruissen, Fred, Baas, Frank, van Spaendonck‐Zwarts, Karin Y., de Visser, Marianne

“…We report a family in which an autosomal dominantly inherited Charcot‐Marie‐Tooth (CMT) disease type 2 was suspected. The affected family members (proband,…”
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Identification of Bmi1-interacting proteins as constituents of a multimeric mammalian polycomb complex by Alkema, M J, Bronk, M, Verhoeven, E, Otte, A, van 't Veer, L J, Berns, A, van Lohuizen, M

“…The Bmi1 gene has been identified as a mouse Polycomb group (Pc-G) gene implicated in the regulation of Hox gene expression. Here we describe the…”
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The use of DNA-microarray technology to research the cell cycle and tumour-specific expression profiles by Kerkhoven, Ron M., Scheijen, Blanca, Bronk, Marieke, Hijmans, Marielle, Kortekaas, Remi, Bernards, Rene

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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations by van Paassen, Barbara W, Bronk, Marieke, Verhamme, Camiel, van Ruissen, Fred, Baas, Frank, van Spaendonck-Zwarts, Karin Y, de Visser, Marianne

“…We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband,…”
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