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Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
Thomson E, Tran M, Robevska G, Ayers K, van der Bergen J, Gopalakrishnan Bhaskaran P, Haan E, Cereghini S, Vash-Margita A, Margetts M, Hensley A, Nguyen Q, Sinclair A, Koopman P, Pelosi E. Thomson E, et al. Among authors: cereghini s. Hum Mol Genet. 2023 Mar 6;32(6):1032-1047. doi: 10.1093/hmg/ddac262. Hum Mol Genet. 2023. PMID: 36282544 Free PMC article.
Hnf1b renal expression directed by a distal enhancer responsive to Pax8.
Goea L, Buisson I, Bello V, Eschstruth A, Paces-Fessy M, Le Bouffant R, Chesneau A, Cereghini S, Riou JF, Umbhauer M. Goea L, et al. Among authors: cereghini s. Sci Rep. 2022 Nov 19;12(1):19921. doi: 10.1038/s41598-022-21171-x. Sci Rep. 2022. PMID: 36402859 Free PMC article.
Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.
Niborski LL, Paces-Fessy M, Ricci P, Bourgeois A, Magalhães P, Kuzma-Kuzniarska M, Lesaulnier C, Reczko M, Declercq E, Zürbig P, Doucet A, Umbhauer M, Cereghini S. Niborski LL, et al. Among authors: cereghini s. Dis Model Mech. 2021 May 1;14(5):dmm047498. doi: 10.1242/dmm.047498. Epub 2021 May 4. Dis Model Mech. 2021. PMID: 33737325 Free PMC article.
Pancreatic Ductal Deletion of Hnf1b Disrupts Exocrine Homeostasis, Leads to Pancreatitis, and Facilitates Tumorigenesis.
Quilichini E, Fabre M, Dirami T, Stedman A, De Vas M, Ozguc O, Pasek RC, Cereghini S, Morillon L, Guerra C, Couvelard A, Gannon M, Haumaitre C. Quilichini E, et al. Among authors: cereghini s. Cell Mol Gastroenterol Hepatol. 2019;8(3):487-511. doi: 10.1016/j.jcmgh.2019.06.005. Epub 2019 Jun 21. Cell Mol Gastroenterol Hepatol. 2019. PMID: 31229598 Free PMC article.
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
Ricci P, Magalhães P, Krochmal M, Pejchinovski M, Daina E, Caruso MR, Goea L, Belczacka I, Remuzzi G, Umbhauer M, Drube J, Pape L, Mischak H, Decramer S, Schaefer F, Schanstra JP, Cereghini S, Zürbig P. Ricci P, et al. Among authors: cereghini s. Sci Rep. 2019 Feb 18;9(1):2225. doi: 10.1038/s41598-019-38713-5. Sci Rep. 2019. PMID: 30778115 Free PMC article.
Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice.
Torell F, Bennett K, Cereghini S, Fabre M, Rännar S, Lundstedt-Enkel K, Moritz T, Haumaitre C, Trygg J, Lundstedt T. Torell F, et al. Among authors: cereghini s. J Proteome Res. 2018 Jul 6;17(7):2293-2306. doi: 10.1021/acs.jproteome.7b00821. Epub 2018 Jun 15. J Proteome Res. 2018. PMID: 29873499
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