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β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Dobritzsch D, Meijer J, Meinsma R, Maurer D, Monavari AA, Gummesson A, Reims A, Cayuela JA, Kuklina N, Benoist JF, Perrin L, Assmann B, Hoffmann GF, Bierau J, Kaindl AM, van Kuilenburg ABP. Dobritzsch D, et al. Among authors: cayuela ja. Mol Genet Metab. 2022 Jul;136(3):177-185. doi: 10.1016/j.ymgme.2022.01.102. Epub 2022 Feb 1. Mol Genet Metab. 2022. PMID: 35151535 Free article.
Incidence and prognostic impact of U2AF1 mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion.
Castillo MI, Ribate VE, Muñoz CM, Santillana SG, Taboada SE, Casterá ME, Abinzano CMJ, Barranco IA, Nieto CR, Pampliega VM, Blanco ML, de Andrés ÁS, de Oteyza PJ, Del Castillo BT, Font GI, Cayuela JA, Díez-Campelo M, Sánchez AR, Vercet SC, Díaz TM; Grupo Español de Síndromes Mielodisplásicos (GESMD). Castillo MI, et al. Among authors: cayuela ja. Cancer Med. 2023 Aug;12(16):16788-16792. doi: 10.1002/cam4.6300. Epub 2023 Jul 5. Cancer Med. 2023. PMID: 37403747 Free PMC article.
Prevention of type 2 diabetes in prediabetic patients by using functional olive oil enriched in oleanolic acid: The PREDIABOLE study, a randomized controlled trial.
Santos-Lozano JM, Rada M, Lapetra J, Guinda Á, Jiménez-Rodríguez MC, Cayuela JA, Ángel-Lugo A, Vilches-Arenas Á, Gómez-Martín AM, Ortega-Calvo M, Castellano JM. Santos-Lozano JM, et al. Among authors: cayuela ja. Diabetes Obes Metab. 2019 Nov;21(11):2526-2534. doi: 10.1111/dom.13838. Epub 2019 Aug 28. Diabetes Obes Metab. 2019. PMID: 31364228 Free article. Clinical Trial.
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Döbeln U, Gustafsson CM, Lundeberg J, Wedell A. Bjursell MK, et al. Among authors: cayuela ja. Am J Hum Genet. 2011 Oct 7;89(4):507-15. doi: 10.1016/j.ajhg.2011.09.004. Epub 2011 Sep 28. Am J Hum Genet. 2011. PMID: 21963049 Free PMC article.
[Cervical spine in progressive chronic polyarthritis].
Batalla E, De Vega S, Cayuela JA. Batalla E, et al. Among authors: cayuela ja. Rev Esp Reum Enferm Osteoartic. 1968 Oct;12(8):26-41. Rev Esp Reum Enferm Osteoartic. 1968. PMID: 5736094 Spanish. No abstract available.