Search results for: Anneke B. Oostra

Items from 1 to 8 out of 8 results

article

Sensitivity to chromosomal breakage as risk factor in young adults with oral squamous cell carcinoma

Boudewijn J. M. Braakhuis, Aggie W. M. Nieuwint, Anneke B. Oostra, Hans Joenje, more

Journal of Oral Pathology & Medicine > 45 > 3 > 189 - 192

ObjectiveOral squamous cell carcinoma (OSCC) may develop in young adults. In contrast to older patients, the well‐known etiological factors, exposure to tobacco and alcohol, play a minor role in the carcinogenesis in this patient group. It has been suggested that an intrinsic susceptibility to environmental genotoxic exposures plays a role in the development of OSCC in these patients. The hypothesis...

article

The iron-sulfur cluster assembly network component NARFL is a key element in the cellular defense against oxidative stress

Monique V. Corbin, Davy A.P. Rockx, Anneke B. Oostra, Hans Joenje, more

Free Radical Biology and Medicine > 2015 > 89 > C > 863-872

Aim of this study was to explore cellular changes associated with increased resistance to atmospheric oxygen using high-resolution DNA and RNA profiling combined with functional studies. Two independently selected oxygen-resistant substrains of HeLa cells (capable of proliferating at >80% O₂, i.e. hyperoxia) were compared with their parental cells (adapted to growth at 20% O₂, but unable to grow...

article

A Ubiquitin-Binding Protein, FAAP20, Links RNF8-Mediated Ubiquitination to the Fanconi Anemia DNA Repair Network

Zhijiang Yan, Rong Guo, Manikandan Paramasivam, Weiping Shen, more

Molecular Cell > 2012 > 47 > 1 > 61-75

The Fanconi anemia (FA) protein network is necessary for repair of DNA interstrand crosslinks (ICLs), but its control mechanism remains unclear. Here we show that the network is regulated by a ubiquitin signaling cascade initiated by RNF8 and its partner, UBC13, and mediated by FAAP20, a component of the FA core complex. FAAP20 preferentially binds the ubiquitin product of RNF8-UBC13, and this ubiquitin-binding...

article

Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg

Henri J. van de Vrugt, Mireille Koomen, Sietske Bakker, Mariska A.D. Berns, more

DNA Repair > 2011 > 10 > 12 > 1252-1261

Fanconi anemia (FA) is a heritable disease characterized by bone marrow failure, congenital abnormalities, and cancer predisposition. The 15 identified FA genes operate in a molecular pathway to preserve genomic integrity. Within this pathway the FA core complex operates as an ubiquitin ligase that activates the complex of FANCD2 and FANCI to coordinate DNA repair. The FA core complex is formed by...

article

Fancf‐deficient mice are prone to develop ovarian tumours

Sietske T Bakker, Henri J van de Vrugt, Jenny A Visser, Elly Delzenne‐Goette, more

The Journal of Pathology > 226 > 1 > 28 - 39

Fanconi anaemia (FA) is a rare recessive disorder marked by developmental abnormalities, bone marrow failure, and a high risk for the development of leukaemia and solid tumours. The inactivation of FA genes, in particular FANCF, has also been documented in sporadic tumours in non‐FA patients. To study whether there is a causal relationship between FA pathway defects and tumour development, we have...

article

A Histone-Fold Complex and FANCM Form a Conserved DNA-Remodeling Complex to Maintain Genome Stability

Zhijiang Yan, Mathieu Delannoy, Chen Ling, Danielle Daee, more

Molecular Cell > 2010 > 37 > 6 > 865-878

FANCM remodels branched DNA structures and plays essential roles in the cellular response to DNA replication stress. Here, we show that FANCM forms a conserved DNA-remodeling complex with a histone-fold heterodimer, MHF. We find that MHF stimulates DNA binding and replication fork remodeling by FANCM. In the cell, FANCM and MHF are rapidly recruited to forks stalled by DNA interstrand crosslinks,...

article

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

Petra van der Lelij, Krystyna H. Chrzanowska, Barbara C. Godthelp, Martin A. Rooimans, more

The American Journal of Human Genetics > 2010 > 86 > 2 > 262-266

The iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a small subclass of superfamily 2 helicases. XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. Here, we report a human individual with biallelic mutations in DDX11. Defective DDX11 is associated with a unique cellular phenotype in which features of Fanconi anemia...

article

Evidence for at Least Eight Fanconi Anemia Genes

Hans Joenje, Anneke B. Oostra, Mario Wijker, Franca M. di Summa, more

The American Journal of Human Genetics > 1997 > 61 > 4 > 940-944

Fanconi anemia (FA) is an autosomal recessive chromosomal breakage disorder with diverse clinical symptoms including progressive bone marrow failure and increased cancer risk. FA cells are hypersensitive to crosslinking agents, which has been exploited to assess genetic heterogeneity through complementation analysis. Five complementation groups (FA-A through FA-E) have so far been distinguished among...

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Search results for: Anneke B. Oostra

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