Search Results - "Kouwenhoven, Evelyn N."

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability by Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis, André, Zhou, Huiqing, Zweier, Christiane

“…An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often…”
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Transcription factor p63 bookmarks and regulates dynamic enhancers during epidermal differentiation by Kouwenhoven, Evelyn N, Oti, Martin, Niehues, Hanna, van Heeringen, Simon J, Schalkwijk, Joost, Stunnenberg, Hendrik G, van Bokhoven, Hans, Zhou, Huiqing

“…The transcription factor p63 plays a pivotal role in keratinocyte proliferation and differentiation in the epidermis. However, how p63 regulates epidermal…”
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p63 exerts spatio-temporal control of palatal epithelial cell fate to prevent cleft palate by Richardson, Rose, Mitchell, Karen, Hammond, Nigel L, Mollo, Maria Rosaria, Kouwenhoven, Evelyn N, Wyatt, Niki D, Donaldson, Ian J, Zeef, Leo, Burgis, Tim, Blance, Rognvald, van Heeringen, Simon J, Stunnenberg, Hendrik G, Zhou, Huiqing, Missero, Caterina, Romano, Rose Anne, Sinha, Satrajit, Dixon, Michael J, Dixon, Jill

“…Cleft palate is a common congenital disorder that affects up to 1 in 2500 live births and results in considerable morbidity to affected individuals and their…”
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Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape by Qu, Jieqiong, Tanis, Sabine E.J., Smits, Jos P.H., Kouwenhoven, Evelyn N., Oti, Martin, van den Bogaard, Ellen H., Logie, Colin, Stunnenberg, Hendrik G., van Bokhoven, Hans, Mulder, Klaas W., Zhou, Huiqing

“…Transcription factor p63 is a key regulator of epidermal keratinocyte proliferation and differentiation. Mutations in the p63 DNA-binding domain are associated…”
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Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice by Thomason, Helen A, Zhou, Huiqing, Kouwenhoven, Evelyn N, Dotto, Gian-Paolo, Restivo, Gaia, Nguyen, Bach-Cuc, Little, Hayley, Dixon, Michael J, van Bokhoven, Hans, Dixon, Jill

“…Cleft palate is a common congenital disorder that affects up to 1 in 2,500 live human births and results in considerable morbidity to affected individuals and…”
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Genome-wide p63-regulated gene expression in differentiating epidermal keratinocytes by Oti, Martin, Kouwenhoven, Evelyn N., Zhou, Huiqing

“…The transcription factor p63 is a key regulator in epidermal keratinocyte proliferation and differentiation. However, the role of p63 in gene regulation during…”
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Gene regulatory mechanisms orchestrated by p63 in epithelial development and related disorders by Kouwenhoven, Evelyn N., van Bokhoven, Hans, Zhou, Huiqing

“…The transcription factor p63 belongs to the p53 family and is a key regulator in epithelial commitment and development. Mutations in p63 give rise to several…”
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Mutant Ras and inflammation-driven skin tumorigenesis is suppressed via a JNK-iASPP-AP1 axis by Al Moussawi, Khatoun, Chung, Kathryn, Carroll, Thomas M., Osterburg, Christian, Smirnov, Artem, Lotz, Rebecca, Miller, Paul, Dedeić, Zinaida, Zhong, Shan, Oti, Martin, Kouwenhoven, Evelyn N., Asher, Ruth, Goldin, Robert, Tellier, Michael, Murphy, Shona, Zhou, Huiqing, Dötsch, Volker, Lu, Xin

“…Concurrent mutation of a RAS oncogene and the tumor suppressor p53 is common in tumorigenesis, and inflammation can promote RAS-driven tumorigenesis without…”
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An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature by Karjosukarso, Dyah W, van Gestel, Sebastianus H C, Qu, Jieqiong, Kouwenhoven, Evelyn N, Duijkers, Lonneke, Garanto, Alejandro, Zhou, Huiqing, Collin, Rob W J

“…Abstract Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder hallmarked by an abnormal development of retinal vasculature. A missense…”
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Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus by Kouwenhoven, Evelyn N, van Heeringen, Simon J, Tena, Juan J, Oti, Martin, Dutilh, Bas E, Alonso, M Eva, de la Calle-Mustienes, Elisa, Smeenk, Leonie, Rinne, Tuula, Parsaulian, Lilian, Bolat, Emine, Jurgelenaite, Rasa, Huynen, Martijn A, Hoischen, Alexander, Veltman, Joris A, Brunner, Han G, Roscioli, Tony, Oates, Emily, Wilson, Meredith, Manzanares, Miguel, Gómez-Skarmeta, José Luis, Stunnenberg, Hendrik G, Lohrum, Marion, van Bokhoven, Hans, Zhou, Huiqing

“…Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. Elucidation of the…”
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An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects by Fakhouri, Walid D., Rahimov, Fedik, Attanasio, Catia, Kouwenhoven, Evelyn N., Ferreira De Lima, Renata L., Felix, Temis Maria, Nitschke, Larissa, Huver, David, Barrons, Julie, Kousa, Youssef A., Leslie, Elizabeth, Pennacchio, Len A., Van Bokhoven, Hans, Visel, Axel, Zhou, Huiqing, Murray, Jeffrey C., Schutte, Brian C.

“…DNA variation in Interferon Regulatory Factor 6 (IRF6) causes Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate (CLP)…”
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APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations by Shen, Jinfeng, van den Bogaard, Ellen H, Kouwenhoven, Evelyn N, Bykov, Vladimir J N, Rinne, Tuula, Zhang, Qiang, Tjabringa, Geuranne S, Gilissen, Christian, van Heeringen, Simon J, Schalkwijk, Joost, van Bokhoven, Hans, Wiman, Klas G, Zhou, Huiqing

“…p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders…”
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The contribution of the nonhomologous region of Prs1 to the maintenance of cell wall integrity and cell viability by Ugbogu, Eziuche A., Wippler, Sonja, Euston, Matthew, Kouwenhoven, Evelyn N., de Brouwer, Arjan P.M., Schweizer, Lilian M., Schweizer, Michael

“…Abstract The gene products of the five-membered PRS gene family in Saccharomyces cerevisiae have been shown to exist as three minimal functional entities,…”
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APR-246/PRIMA-1ᴹᴱᵀ rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations by Shen, Jinfeng, van den Bogaard, Ellen H., Kouwenhoven, Evelyn N., Bykov, Vladimir J. N., Rinne, Tuula, Zhang, Qiang, Tjabringa, Geuranne S., Gilissen, Christian, van Heeringen, Simon J., Schalkwijk, Joost, van Bokhoven, Hans, Wiman, Klas G., Zhou, Huiqing

“…p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders…”
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The contribution of the nonhomologous region of P rs1 to the maintenance of cell wall integrity and cell viability by Ugbogu, Eziuche A, Wippler, Sonja, Euston, Matthew, Kouwenhoven, Evelyn N, Brouwer, Arjan PM, Schweizer, Lilian M, Schweizer, Michael

“…The gene products of the five-membered PRS gene family in S accharomyces cerevisiae have been shown to exist as three minimal functional entities, P rs1/ P…”
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APR-246/PRIMA-1METrescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations by Shen, Jinfeng, van den Bogaard, Ellen H., Kouwenhoven, Evelyn N., Bykov, Vladimir J. N., Rinne, Tuula, Zhang, Qiang, Tjabringa, Geuranne S., Gilissen, Christian, van Heeringen, Simon J., Schalkwijk, Joost, van Bokhoven, Hans, Wiman, Klas G., Zhou, Huiqing

“…p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders…”
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APR-246/PRIMA-1^sup MET^ rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations by Shen, Jinfeng, van den Bogaard, Ellen H, Kouwenhoven, Evelyn N, Bykov, Vladimir J N, Rinne, Tuula, Zhang, Qiang, Tjabringa, Geuranne S, Gilissen, Christian, van Heeringen, Simon J, Schalkwijk, Joost, van Bokhoven, Hans, Wiman, Klas G, Zhou, Huiqing

“…p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders…”
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APR-246/PRIMA-1 MET rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations by Shen, Jinfeng, van den Bogaard, Ellen H., Kouwenhoven, Evelyn N., Bykov, Vladimir J. N., Rinne, Tuula, Zhang, Qiang, Tjabringa, Geuranne S., Gilissen, Christian, van Heeringen, Simon J., Schalkwijk, Joost, van Bokhoven, Hans, Wiman, Klas G., Zhou, Huiqing

“…p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders…”
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Genome-Wide Profiling of p63 DNA-Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus: e1001065 by Kouwenhoven, Evelyn N, Heeringen, Simon Jvan, Tena, Juan J, Oti, Martin, Dutilh, Bas E, Alonso, M Eva, Calle-Mustienes, Elisa dela, Smeenk, Leonie, Rinne, Tuula, Parsaulian, Lilian, Bolat, Emine, Jurgelenaite, Rasa, Huynen, Martijn A, Hoischen, Alexander, Veltman, Joris A, Brunner, Han G, Roscioli, Tony, Oates, Emily, Wilson, Meredith, Manzanares, Miguel, Gómez-Skarmeta, José Luis, Stunnenberg, Hendrik G, Lohrum, Marion, Bokhoven, Hans van, Zhou, Huiqing

“…Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. Elucidation of the…”
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Cloning, sequence analysis and phylogeny of connexin43 isolated from American black bear heart by Van Der Heyden, Marcel A G, Kok, Bart, Kouwenhoven, Evelyn N, Tøien, Øivind, Barnes, Brian M, Fedorov, Vadim G, Efimov, Igor R, Opthof, Tobias

“…Conduction in the heart requires gap junctions. In mammalian ventricular myocytes these consist of connexin43 (Cx43). Hearts of non-hibernating species display…”
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