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Page 1
Tuning the 3D microenvironment of reprogrammed tubule cells enhances biomimetic modeling of polycystic kidney disease.
Pichler R, Rizzo L, Tröndle K, Bühler M, Brucker H, Müller AL, Grand K, Farè S, Viau A, Kaminski MM, Kuehn EW, Koch F, Zimmermann S, Koltay P, Lienkamp SS. Pichler R, et al. Among authors: grand k. Biomaterials. 2022 Dec;291:121910. doi: 10.1016/j.biomaterials.2022.121910. Epub 2022 Nov 8. Biomaterials. 2022. PMID: 36403325 Free article.
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.
Marchesin V, Pérez-Martí A, Le Meur G, Pichler R, Grand K, Klootwijk ED, Kesselheim A, Kleta R, Lienkamp S, Simons M. Marchesin V, et al. Among authors: grand k. Cell Rep. 2019 Dec 24;29(13):4407-4421.e5. doi: 10.1016/j.celrep.2019.11.066. Cell Rep. 2019. PMID: 31875549 Free PMC article.
Deep learning is widely applicable to phenotyping embryonic development and disease.
Naert T, Çiçek Ö, Ogar P, Bürgi M, Shaidani NI, Kaminski MM, Xu Y, Grand K, Vujanovic M, Prata D, Hildebrandt F, Brox T, Ronneberger O, Voigt FF, Helmchen F, Loffing J, Horb ME, Willsey HR, Lienkamp SS. Naert T, et al. Among authors: grand k. Development. 2021 Nov 1;148(21):dev199664. doi: 10.1242/dev.199664. Epub 2021 Nov 5. Development. 2021. PMID: 34739029 Free PMC article.
SCD5 Regulation by VHL Affects Cell Proliferation and Lipid Homeostasis in ccRCC.
Ganner A, Philipp A, Lagies S, Wingendorf L, Wang L, Pilz F, Welte T, Grand K, Lienkamp SS, Klein M, Kammerer B, Frew IJ, Walz G, Neumann-Haefelin E. Ganner A, et al. Among authors: grand k. Cells. 2023 Mar 8;12(6):835. doi: 10.3390/cells12060835. Cells. 2023. PMID: 36980176 Free PMC article.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quelin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean S, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. Lavillaureix A, et al. Among authors: grand k. Genet Med. 2024 Mar 23:101126. doi: 10.1016/j.gim.2024.101126. Online ahead of print. Genet Med. 2024. PMID: 38529886 Free article.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: grand k. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
Listening to patients with suspected genetic diagnoses: A narrative perspective.
Slocum RB, Hurst ACE, Shelley E, Berry L, Hopkin RJ, Rippert AL, Bhoj E, Graham JM Jr, Grand K, Gonzalez A, Zarate YA. Slocum RB, et al. Among authors: grand k. Am J Med Genet C Semin Med Genet. 2023 Dec 4:e32079. doi: 10.1002/ajmg.c.32079. Online ahead of print. Am J Med Genet C Semin Med Genet. 2023. PMID: 38050656 No abstract available.
58 results