Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

Autor: Fahad A. Alghaith, Heleen H. Arts, Francois J. Plourde, Andrew Boswall, Partima Gulati, P. Daniel McNeely, Philip D. Acott, Kenny K. Wong, Sarah Dyack

Publikováno v: American Journal of Medical Genetics Part A. 191:554-558

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3e18a173d35ea8dfa856a226b9c1c98c
https://doi.org/10.1002/ajmg.a.63023

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Autor: Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)

Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new in

Externí odkaz: https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0

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

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

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