Induced pluripotent stem cells from subjects with Lesch-Nyhan disease

Autor: Diane J. Sutcliffe, Ashok R. Dinasarapu, Jasper E. Visser, Joery den Hoed, Fatemeh Seifar, Piyush Joshi, Irene Ceballos-Picot, Tejas Sardar, Ellen J. Hess, Yan V. Sun, Zhexing Wen, Michael E. Zwick, H. A. Jinnah

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)

Abstract Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem c

Externí odkaz: https://doaj.org/article/957b5bb790da4d86aa190f7843f35d1e

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Autor: Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra

Publikováno v: Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine

PURPOSE: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c634fbbfbfe9fc61dcffebf9b78acf3
https://doi.org/10.1016/j.gim.2022.02.014

The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour

Autor: Alberto Cebrian-Serrano, Benjamin Davies, Enrico Castroflorio, Andrew R. Bassett, Peter L. Oliver, Daria M. Svistunova, Mattéa J. Finelli, Joery den Hoed, Silvia Corrochano

Publikováno v: Cellular and Molecular Life Sciences

Abstract Members of the Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) protein family are associated with multiple neurodevelopmental disorders, although their exact roles in disease remain unclear. For example, nuclear receptor c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edccdc3abdd5f2f52cf112f87581e511
https://doi.org/10.1007/s00018-020-03721-6

Molecular networks of the FOXP2 transcription factor in the brain

Autor: Simon E. Fisher, Joery den Hoed, Karthikeyan Devaraju

Publikováno v: EMBO Reports
EMBO Reports, 22, 8, pp. 1-15
EMBO Reports, 22, 1-15

The discovery of the FOXP2 transcription factor, and its implication in a rare severe human speech and language disorder, has led to two decades of empirical studies focused on uncovering its roles in the brain using a range of in vitro and in vivo m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66df26e711ab15ee99699ffdc04a0baf
http://europepmc.org/articles/PMC8339667

Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits

Autor: Anton V. Sidoroff-Dorso, Joery den Hoed, Duncan Carmichael, Jamie Ward, Beate St Pourcain, Simon E. Fisher, Loes van den Heuvel, Julia Simner, Arianna Vino, Amanda K. Tilot, Romke Rouw, Archie Campbell, Tessa M. van Leeuwen, David J. Porteous, Katerina S. Kucera

Publikováno v: Tilot, A K, Vino, A, Kucera, K S, Carmichael, D A, van den Heuvel, L, den Hoed, J, Sidoroff-Dorso, A V, Campbell, A, Porteous, D J, St Pourcain, B, van Leeuwen, T M, Ward, J, Rouw, R, Simner, J & Fisher, S E 2019, ' Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits ', Philosophical Transactions B: Biological Sciences, vol. 374, no. 1787 . https://doi.org/10.1098/rstb.2019.0026
Philosophical Transactions of the Royal Society B-Biological Sciences, 374(1787):20190026. Royal Society of London
Philosophical Transactions of the Royal Society B: Biological Sciences, 374(1787), 1-11. ROYAL SOC
Philosophical Transactions-Royal Society. Biological Sciences, 374, 1-11
Tilot, A K, Vino, A, Kucera, K S, Carmichael, D A, van den Heuvel, L, den Hoed, J, Sidoroff-Dorso, A V, Campbell, A, Porteous, D J, St Pourcain, B, van Leeuwen, T M, Ward, J, Rouw, R, Simner, J & Fisher, S E 2019, ' Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits ', Philosophical Transactions of the Royal Society B: Biological Sciences, vol. 374, no. 1787, pp. 20190026 . https://doi.org/10.1098/rstb.2019.0026
Philosophical Transactions-Royal Society. Biological Sciences, 374, 1787, pp. 1-11
Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences

Synaesthesia is a neurological phenomenon affecting perception, where triggering stimuli (e.g. letters and numbers) elicit unusual secondary sensory experiences (e.g. colours). Family-based studies point to a role for genetic factors in the developme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0896e4b2da5b3be4a3c1ec15bc26de5
https://hdl.handle.net/1983/41f5bebc-d4ee-45a6-97c1-c1749431e9b4