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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2004 2
2005 1
2006 4
2007 5
2009 3
2010 5
2011 6
2012 7
2013 6
2014 10
2015 6
2016 4
2017 8
2018 5
2019 4
2020 7
2021 10
2022 8
2023 5
2024 1

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98 results

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Page 1
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure.
Daponte V, Tonelli F, Masiero C, Syx D, Exbrayat-Héritier C, Biggiogera M, Willaert A, Rossi A, Coucke PJ, Ruggiero F, Forlino A. Daponte V, et al. Among authors: coucke pj. Matrix Biol. 2023 Aug;121:105-126. doi: 10.1016/j.matbio.2023.06.003. Epub 2023 Jun 17. Matrix Biol. 2023. PMID: 37336269 Free article.
Zebrafish Tric-b is required for skeletal development and bone cells differentiation.
Tonelli F, Leoni L, Daponte V, Gioia R, Cotti S, Fiedler IAK, Larianova D, Willaert A, Coucke PJ, Villani S, Busse B, Besio R, Rossi A, Witten PE, Forlino A. Tonelli F, et al. Among authors: coucke pj. Front Endocrinol (Lausanne). 2023 Jan 23;14:1002914. doi: 10.3389/fendo.2023.1002914. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36755921 Free PMC article.
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
Meerschaut I, Steyaert W, Bové T, François K, Martens T, De Groote K, De Wilde H, Muiño Mosquera L, Panzer J, Vandekerckhove K, Moons L, Vermassen P, Symoens S, Coucke PJ, De Wolf D, Callewaert B. Meerschaut I, et al. Among authors: coucke pj. Genes (Basel). 2022 Jul 7;13(7):1214. doi: 10.3390/genes13071214. Genes (Basel). 2022. PMID: 35885997 Free PMC article.
98 results