Výsledky vyhledávání - "Peter E Thijssen"

Akademický článek

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.

Autor: Yvonne D Krom, Peter E Thijssen, Janet M Young, Bianca den Hamer, Judit Balog, Zizhen Yao, Lisa Maves, Lauren Snider, Paul Knopp, Peter S Zammit, Tonnie Rijkers, Baziel G M van Engelen, George W Padberg, Rune R Frants, Rabi Tawil, Stephen J Tapscott, Silvère M van der Maarel

Publikováno v: PLoS Genetics, Vol 9, Iss 4, p e1003415 (2013)

Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each

Externí odkaz: https://doaj.org/article/83a1bd1783864485aea4de89cfb665bb

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Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome

Publikováno v: Journal of Experimental Medicine, 217(11). ROCKEFELLER UNIV PRESS
The Journal of experimental medicine, 217(11)
The Journal of Experimental Medicine

Mutations in ZBTB24 cause immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome. Helfricht et al. demonstrate that the loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination, proving a molecular basis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0193041240ab8d67e08c4936d5e79ad
https://hdl.handle.net/1887/3182619

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Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2

Publikováno v: Clinical Genetics. 92:380-387

Background Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from recurrent infections caused by reduced levels or absence of serum immun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::266e25536400d64844a4548b1c31296e
https://doi.org/10.1111/cge.12979

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Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

Autor: Judit Balog, Richard J.L.F. Lemmers, Marlinde L. van den Boogaard, Kirsten R. Straasheijm, Peter E. Thijssen, Stephen J. Tapscott, Rabi Tawil, Silvère M. van der Maarel, Sean C. Shadle, Yvonne D. Krom, Patrick J. van der Vliet, Annika de Jong

Publikováno v: Epigenetics

Facioscapulohumeral muscular dystrophy is caused by incomplete epigenetic repression of the transcription factor DUX4 in skeletal muscle. A copy of DUX4 is located within each unit of the D4Z4 macrosatellite repeat array and its derepression in somat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0943770854b226100470a52a8f2f03f
https://doi.org/10.1080/15592294.2015.1113798

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Adipocyte telomere length associates negatively with adipocyte size, whereas adipose tissue telomere length associates negatively with the extent of fibrosis in severely obese women

Autor: Ignace M. C. Janssen, Peter Henneman, Peter E. Thijssen, K. Willems van Dijk, Hanno Pijl, Frits Koning, Annemieke Visser, Mirjam A. Lips, F el Bouazzaoui, Vanessa van Harmelen

Publikováno v: International Journal of Obesity, 38(5), 746-749

Telomere length can be considered as a biological marker for cell proliferation and aging. Obesity is associated with adipocyte hypertrophy and proliferation as well as with shorter telomeres in adipose tissue. As adipose tissue is a mixture of diffe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2284583990400155a383ef70f4bd6704
https://doi.org/10.1038/ijo.2013.175

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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

Publikováno v: Weemaes, C M R, van Tol, M J D, Wang, J, Dam, M, van Eggermond, M C J A, Thijssen, P E, Aytekin, C, Brunetti-Pierri, N, van der Burg, M, Graham Davies, E, Ferster, A, Furthner, D, Gimelli, G, Gennery, A, Kloeckener-Gruissem, B, Meyn, S, Powell, C, Reisli, I, Schuetz, C, Schulz, A, Shugar, A, van den Elsen, P J & van der Maarel, S M 2013, ' Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects ', European Journal of Human Genetics, vol. 21, no. 11, pp. 1219-1225 . https://doi.org/10.1038/ejhg.2013.40
European Journal of Human Genetics, 21(11), 1219-1225. Nature Publishing Group
European Journal of Human Genetics, 21, 11, pp. 1219-25
European Journal of Human Genetics, 21, 1219-25
European Journal of Human Genetics, 21(11), 1219-1225

Item does not contain fulltext Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e388de1df44fcd577ce2b886f253002
https://doi.org/10.1038/ejhg.2013.40

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Correction: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Publikováno v: Nature Communications
Nature Communications, Nature Publishing Group, 2016, 7 (1), ⟨10.1038/ncomms12003⟩
Nature Communications, Vol 7, Iss 1, Pp 1-2 (2016)

Nature Communications 6: Article number: 7870 (2015); Published: 28 July 2015; Updated: 22 June 2016 In Fig. 1b of this Article, the sex of patient 2.1 in family A is incorrect, and should be depicted as male. The correct version of this figure appea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc46c9547ee71324d88ddedf59b49090
https://hal.archives-ouvertes.fr/hal-03081812

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Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals

Autor: Jun Wang, Lucia Daxinger, Eleonora de Klerk, Bianca den Hamer, Kelly K. D. Vonk, Silvère M. van der Maarel, Peter E. Thijssen, Caner Aytekin, Haoyu Wu

Publikováno v: Human Molecular Genetics, 25(18), 4041-4051

For genetically heterogeneous diseases a better understanding of how the underlying gene defects are functionally interconnected will be important for dissecting disease etiology. The Immunodeficiency, Centromeric instability, Facial anomalies (ICF)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75cc982b9a30fc3287f8ac90d02b959d
http://hdl.handle.net/1887/114372

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Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation

Autor: Gonul Ogur, Alisan Yildiran, Ummet Abur, Ayşegül Yılmaz, Peter E. Thijssen, Şeyhan Kutluğ

Publikováno v: American journal of medical genetics. Part A. 170(12)

abur, ummet/0000-0002-4811-9321 WOS: 000388199100030 PubMed: 27604394 ICF syndrome is a primary immunodeficiency disease characterized by hypo-or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57d52df2caa6bf4afdb7e865fcec5e37
https://pubmed.ncbi.nlm.nih.gov/27604394

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