Zobrazeno 1 - 10 of 108 pro vyhledávání: '"H. Arts"'
1
Akademický článek
Prognostic image-based quantification of CD8CD103 T cell subsets in high-grade serous ovarian cancer patients
Autor: S. T. Paijens, A. Vledder, D. Loiero, E. W. Duiker, J. Bart, A. M. Hendriks, M. Jalving, H. H. Workel, H. Hollema, N. Werner, A. Plat, G. B. A. Wisman, R. Yigit, H. Arts, A. J. Kruse, N.M. de Lange, V. H. Koelzer, M. de Bruyn, H. W. Nijman
Publikováno v: OncoImmunology, Vol 10, Iss 1 (2021)
CD103-positive tissue resident memory-like CD8+ T cells (CD8CD103 TRM) are associated with improved prognosis across malignancies, including high-grade serous ovarian cancer (HGSOC). However, whether quantification of CD8, CD103 or both is required t
Externí odkaz: https://doaj.org/article/4818c953f2ba48078fb49ed6224cdb2a
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4
Akademický článek
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis
Autor: Kirsten Y. Renkema, Rachel H. Giles, Marc R. Lilien, Philip L. Beales, Ronald Roepman, Machteld M. Oud, Heleen H. Arts, Nine V. A. M. Knoers
Publikováno v: Frontiers in Pediatrics, Vol 6 (2018)
Nephronophthisis (NPH) is the most common monogenic cause of renal failure in children. Treatment options are limited to dialysis and transplantation. Therapeutics to significantly delay or prevent end-stage renal disease (ESRD) in children are curre
Externí odkaz: https://doaj.org/article/590e498d10ab4fd8b983ff27a9f4a513
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5
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype
Autor: Marie Véronique Gaudet, Eric Pierre Allain, Lynne M Gallant, Heleen H Arts, Mouna Ben Amor
Publikováno v: Journal of Medical Genetics. 60:134-136
BackgroundImprinting centre 2 (IC2) in the chromosomal region 11p15.5 regulates the monoallelic expression of imprinted genes by differential methylation of paternal and maternal chromosomes. Copy number variants in IC2 are associated with Beckwith-W
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a1c6f6ea268b0883bd3622247963dbff
https://doi.org/10.1136/jmedgenet-2021-108288
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6
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35
Autor: Heleen H. Arts, Boyana Mikulska, Maciej R Krawczyński, Beata Leszczyńska, Maria Daniel, Anna Wawrocka, Ewelina Bukowska-Olech, Anna Latos-Bielenska, Ewa Obersztyn, Joanna Walczak-Sztulpa
Publikováno v: American Journal of Medical Genetics Part A. 182:2417-2425
The ciliary chondrodysplasias represent a group of clinically and genetically heterogeneous disorders that affect skeleton development. Cilia are organelles that project from the surface of many cell types and play an important role during prenatal a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1f30460e4cc44b92402c782f45f3e3e0
https://doi.org/10.1002/ajmg.a.61785
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7
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Autor: Ewelina Bukowska-Olech, Aleksander Jamsheer, Machteld M. Oud, Anna Wasilewska, Heleen H. Arts, Anna Wawrocka, Anna Latos-Bielenska, Joanna Walczak-Sztulpa, Renata Posmyk, Miriam Schmidts
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases
Background Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearance as wel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96030fa26cd1c1227e617086f7fd3562
https://doaj.org/article/3a057c1244e44416b324608e85beb311
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9
A 132 bp deletion affecting the
Autor: Marie Véronique, Gaudet, Eric Pierre, Allain, Lynne M, Gallant, Heleen H, Arts, Mouna, Ben Amor
Publikováno v: Journal of medical genetics.
Imprinting centre 2 (IC2) in the chromosomal region 11p15.5 regulates the monoallelic expression of imprinted genes by differential methylation of paternal and maternal chromosomes. Copy number variants in IC2 are associated with Beckwith-Wiedemann s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::db4ded8ac1a41b5a76656b533268c89d
https://pubmed.ncbi.nlm.nih.gov/35772847
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10
Akademický článek
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
Autor: Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk
Publikováno v: PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of extra-cellular signals to the cell. This function requires the concentration of receptors and chan
Externí odkaz: https://doaj.org/article/08a6b296c08e4098b69576d26dadd7af
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