Search Results - "JOENJE, Hans"

Update of the human and mouse Fanconi anemia genes by Dong, Hongbin, Nebert, Daniel W, Bruford, Elspeth A, Thompson, David C, Joenje, Hans, Vasiliou, Vasilis

“…Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies…”
Get full text

BIRC2–BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia by Roohollahi, Khashayar, de Jong, Yvonne, Pai, Govind, Zaini, Mohamad Amr, de Lint, Klaas, Sie, Daoud, Rooimans, Martin A., Rockx, Davy, Hoskins, Elizabeth E., Ameziane, Najim, Wolthuis, Rob, Joenje, Hans, Wells, Susanne I., Dorsman, Josephine

“…Head-and-neck squamous cell carcinomas (HNSCCs) are relatively common in patients with Fanconi anemia (FA), a hereditary chromosomal instability disorder…”
Get full text

Publisher Correction: BIRC2–BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia by Roohollahi, Khashayar, de Jong, Yvonne, Pai, Govind, Zaini, Mohamad Amr, de Lint, Klaas, Sie, Daoud, Rooimans, Martin A., Rockx, Davy, Hoskins, Elizabeth E., Ameziane, Najim, Wolthuis, Rob, Joenje, Hans, Wells, Susanne I., Dorsman, Josephine

Get full text

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype by Schindler, Detlev, Rouse, John, de Winter, Johan P, Stoepker, Chantal, Hain, Karolina, Schuster, Beatrice, Hilhorst-Hofstee, Yvonne, Rooimans, Martin A, Steltenpool, Jurgen, Oostra, Anneke B, Eirich, Katharina, Korthof, Elisabeth T, Nieuwint, Aggie W M, Jaspers, Nicolaas G J, Bettecken, Thomas, Joenje, Hans

“…DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which…”
Get full text

Loss of Rb proteins causes genomic instability in the absence of mitogenic signaling by van Harn, Tanja, Foijer, Floris, van Vugt, Marcel, Banerjee, Ruby, Yang, Fentang, Oostra, Anneke, Joenje, Hans, te Riele, Hein

“…Loss of G1/S control is a hallmark of cancer, and is often caused by inactivation of the retinoblastoma pathway. However, mouse embryonic fibroblasts lacking…”
Get full text

A Histone-Fold Complex and FANCM Form a Conserved DNA-Remodeling Complex to Maintain Genome Stability by Yan, Zhijiang, Delannoy, Mathieu, Ling, Chen, Daee, Danielle, Osman, Fekret, Muniandy, Parameswary A., Shen, Xi, Oostra, Anneke B., Du, Hansen, Steltenpool, Jurgen, Lin, Ti, Schuster, Beatrice, Décaillet, Chantal, Stasiak, Andrzej, Stasiak, Alicja Z., Stone, Stacie, Hoatlin, Maureen E., Schindler, Detlev, Woodcock, Christopher L., Joenje, Hans, Sen, Ranjan, de Winter, Johan P., Li, Lei, Seidman, Michael M., Whitby, Matthew C., Myung, Kyungjae, Constantinou, Angelos, Wang, Weidong

“…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…”
Get full text

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa by van den Akker, Peter C, Pasmooij, Anna M G, Joenje, Hans, Hofstra, Robert M W, Te Meerman, Gerard J, Jonkman, Marcel F

“…Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant…”
Get full text

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M by de Winter, Johan P, Wang, Weidong, Meetei, Amom Ruhikanta, Medhurst, Annette L, Ling, Chen, Xue, Yutong, Singh, Thiyam Ramsing, Bier, Patrick, Steltenpool, Jurgen, Stone, Stacie, Dokal, Inderjeet, Mathew, Christopher G, Hoatlin, Maureen, Joenje, Hans

“…Fanconi anemia is a genetic disease characterized by genomic instability and cancer predisposition. Nine genes involved in Fanconi anemia have been identified;…”
Get full text

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J by Wiegant, Wouter W, De Winter, Johan P, Rooimans, Martin A, Waisfisz, Quinten, Pals, Gerard, Hiom, Kevin, Elghalbzouri-Maghrani, Elhaam, Levitus, Marieke, Joenje, Hans, Vries, Yne de, Hussain, Shobbir, Zdzienicka, Ma gorzata Z, Steltenpool, Jûrgen, Godthelp, Barbara C, Mathew, Christopher G, Arwert, Fré

“…The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia…”
Get full text

Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors by D'Andrea, Alan D, Taniguchi, Toshiyasu, Tischkowitz, Marc, Ameziane, Najim, Hodgson, Shirley V, Mathew, Christopher G, Joenje, Hans, Mok, Samuel C

“…Ovarian tumor cells are often genomically unstable and hypersensitive to cisplatin. To understand the molecular basis for this phenotype, we examined the…”
Get full text

Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M by Singh, Thiyam Ramsing, Bakker, Sietske T., Agarwal, Sheba, Jansen, Michael, Grassman, Elke, Godthelp, Barbara C., Ali, Abdullah Mahmood, Du, Chang-hu, Rooimans, Martin A., Fan, Qiang, Wahengbam, Kebola, Steltenpool, Jurgen, Andreassen, Paul R., Williams, David A., Joenje, Hans, de Winter, Johan P., Meetei, Amom Ruhikanta

“…FANCM is a component of the Fanconi anemia (FA) core complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described. Strikingly, we…”
Get full text

A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome by Meetei, Amom Ruhikanta, Sechi, Salvatore, Wallisch, Michael, Yang, Dafeng, Young, Mary K., Joenje, Hans, Hoatlin, Maureen E., Wang, Weidong

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
Get full text

Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis by de Winter, Johan P., Joenje, Hans, Nieuwint, Aggie W. M., Oostra, Anneke B.

“…Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high…”
Get full text

Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients by Ceccaldi, Raphael, Briot, Delphine, Larghero, Jérôme, Vasquez, Nadia, Dubois d’Enghien, Catherine, Chamousset, Delphine, Noguera, Maria-Elena, Waisfisz, Quinten, Hermine, Olivier, Pondarre, Corinne, Leblanc, Thierry, Gluckman, Eliane, Joenje, Hans, Stoppa-Lyonnet, Dominique, Socié, Gérard, Soulier, Jean

“…DNA damage checkpoints in the cell cycle may be important barriers against cancer progression in human cells. Fanconi anemia (FA) is an inherited DNA…”
Get full text

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway by Ling, Chen, Ishiai, Masamichi, Ali, Abdullah Mahmood, Medhurst, Annette L, Neveling, Kornelia, Kalb, Reinhard, Yan, Zhijiang, Xue, Yutong, Oostra, Anneke B, Auerbach, Arleen D, Hoatlin, Maureen E, Schindler, Detlev, Joenje, Hans, de Winter, Johan P, Takata, Minoru, Meetei, Amom Ruhikanta, Wang, Weidong

“…The Fanconi anemia (FA) core complex plays a central role in the DNA damage response network involving breast cancer susceptibility gene products, BRCA1 and…”
Get full text

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes by Levitus, Marieke, Rooimans, Martin A., Steltenpool, Jûrgen, Cool, Nicolle F.C., Oostra, Anneke B., Mathew, Christopher G., Hoatlin, Maureen E., Waisfisz, Quinten, Arwert, Fré, de Winter, Johan P., Joenje, Hans

“…Fanconi anemia (FA) is an autosomal recessive syndrome featuring diverse symptoms including progressive bone marrow failure and early occurrence of acute…”
Get full text

The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2 by van der Lelij, Petra, Godthelp, Barbara C, van Zon, Wouter, van Gosliga, Djoke, Oostra, Anneke B, Steltenpool, Jûrgen, de Groot, Jan, Scheper, Rik J, Wolthuis, Rob M, Waisfisz, Quinten, Darroudi, Firouz, Joenje, Hans, de Winter, Johan P

“…Cohesion between sister chromatids is essential for faithful chromosome segregation. In budding yeast, the acetyltransferase Eco1/Ctf7 establishes cohesion…”
Get full text

Evidence for subcomplexes in the Fanconi anemia pathway by Medhurst, Annette L., Laghmani, El Houari, Steltenpool, Jurgen, Ferrer, Miriam, Fontaine, Chantal, de Groot, Jan, Rooimans, Martin A., Scheper, Rik J., Meetei, Amom Ruhikanta, Wang, Weidong, Joenje, Hans, de Winter, Johan P.

“…Fanconi anemia (FA) is a genomic instability disorder, clinically characterized by congenital abnormalities, progressive bone marrow failure, and…”
Get full text

The Fanconi anemia pathway of genomic maintenance by Levitus, Marieke, Joenje, Hans, de Winter, Johan P

“…Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow…”
Get full text

A protein prioritization approach tailored for the FA/BRCA pathway by Haitjema, Anneke, Brandt, Bernd W, Ameziane, Najim, May, Patrick, Heringa, Jaap, de Winter, Johan P, Joenje, Hans, Dorsman, Josephine C

“…Fanconi anemia (FA) is a heterogeneous recessive disorder associated with a markedly elevated risk to develop cancer. To date sixteen FA genes have been…”
Get full text