ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

Autor: Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle, Alice S. Brooks, Robert M. Hofstra, Tomas Wester, Mikko P. Pakarinen

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)

Abstract Background Hirschsprung’s disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and man

Externí odkaz: https://doaj.org/article/42d1cf64455844b6bff3797333ec19d6

The long Filamin-A isoform is required for intestinal development and motility

Autor: Almira Zada, Yuying Zhao, Danny Halim, Jonathan Windster, Herma C van der Linde, Jackleen Glodener, Sander Overkleeft, Bianca M de Graaf, Robert M Verdijk, Alice S Brooks, Iain Shepherd, Ya Gao, Alan J Burns, Robert M W Hofstra, Maria M Alves

Publikováno v: Human Molecular Genetics, 32(1), 151-160. Oxford University Press

Filamin A (FLNA) is a cytoplasmic actin binding protein, recently shown to be expressed as a long and short isoform. Mutations in FLNA are associated with a wide spectrum of disorders, including an X-linked form of chronic intestinal pseudo-obstructi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddd554831ef6b13a7f29c3f597be41f9
https://doi.org/10.1093/hmg/ddac199

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

Autor: Romy van de Putte, Gabriel C. Dworschak, Erwin Brosens, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Marc A. Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen

Publikováno v: Frontiers in Pediatrics, Vol 8 (2020)

Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been ide

Externí odkaz: https://doaj.org/article/8878786ed8f743aab8a58e7142819dab

Defects in KCNJ16 cause a novel tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness

Autor: Detlef Bockenhauer, Aparna Renigunta, Bertrand Knebelmann, Anselm A. Zdebik, Huguette Debaix, Jennifer Lake, Olivier Devuyst, Dorien Lugtenberg, Martin Konrad, Jeroen H. F. de Baaij, Richard Warth, Anna-Lena Forst, Stephanie Tellier, Pascal Houillier, Daan H H M Viering, Sinthura Mahendran, Velko Atanasov, Alexander Staruschenko, Tahsin Stefan Barakat, Valentine Gillion, Stefanie Weber, Ewout J. Hoorn, Christoph Rudin, Oleg Palygin, Caroline Rousset-Rouvière, Nathalie Godefroid, Rosa Vargas-Poussou, Alice S. Brooks, Karl P. Schlingmann, Vijay Renigunta, Robert Kleta

Publikováno v: Journal of the American Society of Nephrology, 32(6), 1498-1512. American Society of Nephrology
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 1498-1512
Journal of the American Society of Nephrology, 32, 6, pp. 1498-1512

Background: The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recyc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a91f68731b071b799d0d4b11a305e1
https://doi.org/10.1681/asn.2020111587

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Autor: Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

Publikováno v: PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex

Externí odkaz: https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4