Células madre y terapias avanzadas

Alcorta Sevillano N, Infante A, Macias I, I. Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life. Int J Mol Sci. 2023; 24(1). DOI:10.3390/ijms24010184.

Mustafa N, Mitxelena J, Infante A, Zenarruzabeitia O, Eriz A, Iglesias Ara A, et al. E2f2 Attenuates Apoptosis of Activated T Lymphocytes and Protects from Immune-Mediated Injury through Repression of Fas and FasL. Int J Mol Sci. 2022; 23(1). DOI:10.3390/ijms23010311.

Infante A, Alcorta Sevillano N, Macias I, Rodriguez CI. Educating EVs to Improve Bone Regeneration: Getting Closer to the Clinic. Int J Mol Sci. 2022; 23(3). DOI:10.3390/ijms23031865.

Bayat A, de Valles Ibanez G, Pendziwiat M, Knaus A, Alt K, Biamino E, et al. PIGN encephalopathy: Characterizing the epileptology. Epilepsia. 2022; 63(4): 974-991. DOI:10.1111/epi.17173.

Infante A, Cabodevilla L, Gener B, Rodriguez CI. Circulating TGF-beta Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy. Front Cell Dev Biol. 2022; 10. DOI:10.3389/fcell.2022.830928.

Nevado J, Garcia Minaur S, Palomares Bralo M, Vallespin E, Guillen Navarro E, Rosell J, et al. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals. Front Genet. 2022; 13. DOI:10.3389/fgene.2022.652454.

Cospain A, Rivera Barahona A, Dumontet E, Gener B, Bailleul Forestier I, Meyts I, et al. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects. Genet Med. 2022; 24(12): 2475-2486. DOI:10.1016/j.gim.2022.09.002.

Infante A, Gener B, Vazquez M, Olivares N, Arrieta A, Grau G et al. Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial. Clin Transl Med. 2021; 11(1): 265-265. DOI:10.1002/ctm2.265.

Tarilonte M, Ramos P, Moya J, Fernandez Sanz G, Blanco Kelly F, Swafiri ST et al. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. J Med Genet. 2021; 59(5): 428-437. DOI:10.1136/jmedgenet-2020-106932.

Gil Martinez J, Macias I, Unione L, Bernardo Seisdedos G, Lopitz Otsoa F, Fernandez Ramos D et al. Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. Int J Mol Sci. 2021; 22(4). DOI:10.3390/ijms22041789.

Lopes LR, Garcia Hernandez S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D et al. Alpha-protein kinase 3 (ALPK3)-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. Eur Heart J. 2021; 42(32). DOI:10.1093/eurheartj/ehab424.

Macias I, Alcorta Sevillano N, Infante A, Rodriguez CI. Cutting Edge Endogenous Promoting and Exogenous Driven Strategies for Bone Regeneration. Int J Mol Sci. 2021; 22(14). DOI:10.3390/ijms22147724.

Stephens M, Lopez Linares K, Aldazabal J, Macias I, Ortuzar N, Bengoetxea H et al. Murine femur micro-computed tomography and biomechanical datasets for an ovariectomy-induced osteoporosis model. Sci Data. 2021; 8(1): 240-240. DOI:10.1038/s41597-021-01012-8.

Mustafa N, Infante A, Zenarruzabeitia O, Mitxelena J, Iglesias Ara A, Zubiaga AM. E2F2 protects activated T-lymphocytes from apoptosis through repression of Fas/FasL-dependent mechanisms. FEBS Open Bio. 2021; 11: 457-458

Infante A, Rodriguez CI. Cell and Cell-Free Therapies to Counteract Human Premature and Physiological Aging: MSCs Come to Light. J Pers Med. 2021; 11(10). DOI:10.3390/jpm11101043.

Gil Martinez J, Macias I, Unione L, Bernardo Seisdedos G, Ramos DF, Lopitz Otsoa F et al. PHARMACOLOGICAL CHAPERONES AS A NOVEL THERAPY AGAINST TYROSINEMIA TYPE I. Hepatology. 2021; 74: 731-732

Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, et al. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability. Genes. 2020; 11(1). DOI:10.3390/genes11010051.

Macias I, Alcorta Sevillano N, Rodriguez CI, Infante A. Osteoporosis and the Potential of Cell-Based Therapeutic Strategies. Int J Mol Sci. 2020; 21(5). DOI:10.3390/ijms21051653.

Melis D, Carvalho D, Barbaro Dieber T, Espay AJ, Gambello MJ, Gener B, et al. Primrose syndrome: Characterization of the phenotype in 42 patients. Clin Genet. 2020; 97(6): 890-901. DOI:10.1111/cge.13749.

Tenorio J, Alarcon P, Arias P, Dapia I, Garcia Minaur S, Bralo MP, et al. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Eur J Hum Genet. 2020; 28(4): 469-479. DOI:10.1038/s41431-019-0485-3.

Castro LP, Sahbatou M, Kehdy FSG, Farias AA, Yurchenko AA, de Souza TA, et al. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil. Mutat Res. 2020; 852: 503164-503164. DOI:10.1016/j.mrgentox.2020.503164.

Alcorta Sevillano N, Macias I, Rodriguez CI, Infante A. Crucial Role of Lamin A/C in the Migration and Differentiation of MSCs in Bone. Cells. 2020; 9(6). DOI:10.3390/cells9061330.

Alcorta Sevillano N, Macias I, Infante A, I. Deciphering the Relevance of Bone ECM Signaling. Cells. 2020; 9(12). DOI:10.3390/cells9122630.

Costa Roger M, Lopez Sanchez M, Vendrell T, Munoz Cabello P, Gener B, Gabau E, et al. Transcriptomic analysis unveils functional consequences of complex rearrangements associated to autism spectrum disorder. Eur J Hum Genet. 2020; 28(SUPPL 1): 376-377

Catalli C, Olabe HM, Bouzas MG, Naveda LG, Rivas IL, Querol BG, et al. Homozygous frameshift mutation in CHDH associated with adult-onset Spastic Ataxia. Eur J Hum Genet. 2020; 28(SUPPL 1): 383-384

van der Sluijs PJ, Jansen S, Vergano SA, Adachi Fukuda M, Alanay Y, AlKindy A, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019; 21(6): 1295-1307. DOI:10.1038/s41436-018-0330-z.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi Fukuda M, Alanay Y, AlKindy A, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019). Genet Med. 2019; 21(9): 2160-2161. DOI:10.1038/s41436-018-0368-y.

Alba Pavon P, Astigarraga I, Garcia Obregon S, Echebarria A, Garcia Ariza M, Lopez Almaraz R, et al. Identification of Gardner Syndrome Among Paediatric Fibroblastic and Myofibroblastic Tumours: A Study of 7 Cases. Pediatr Blood Cancer. 2019; 66: 347-348

Mitxitorena I, Infante A, Gener B, Rodriguez CI. Suitability and limitations of mesenchymal stem cells to elucidate human bone illness. World J Stem Cells. 2019; 11(9): 578-593. DOI:10.4252/wjsc.v11.i9.578.

Medhat D, Rodriguez CI, Infante A. Immunomodulatory Effects of MSCs in Bone Healing. Int J Mol Sci. 2019; 20(21). DOI:10.3390/ijms20215467.

Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton Smith J, et al. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. Am J Med Genet C Semin Med Genet. 2019; 181(4): 502-508. DOI:10.1002/ajmg.c.31738.

Pereda A, Garin I, Perez de Nanclares G, Anda E, Berrade S, Ramos Arroyo MA, et al. What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis. BMC Med Genet. 2018; 19(1): 32-32. DOI:10.1186/s12881-018-0530-z.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, et al. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018; 103(5): 786-793. DOI:10.1016/j.ajhg.2018.09.012.

Tarilonte M, Morin M, Ramos P, Galdos M, Blanco Kelly F, Villaverde C, et al. Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. Front Genet. 2018; 9. DOI:10.3389/fgene.2018.00479.

Infante A, Rodriguez CI. Osteogenesis and aging: lessons from mesenchymal stem cells. Stem Cell Res Ther. 2018; 9. DOI:10.1186/s13287-018-0995-x.

Infante A, Rodriguez CI. Secretome analysis of in vitro aged human mesenchymal stem cells reveals IGFBP7 as a putative factor for promoting osteogenesis. Sci Rep. 2018; 8. DOI:10.1038/s41598-018-22855-z.

Vado Y, Errea Dorronsoro J, Llano Rivas I, Gorria N, Pereda A, Gener B, et al. Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. BMC Med Genomics. 2018; 11(1): 124-124. DOI:10.1186/s12920-018-0441-z.

Tatton Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, et al. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res. 2018; 3: 46-46. DOI:10.12688/wellcomeopenres.14430.1.

Infante A, Rubio Azpeitia E, Sanchez P, Alberdi R, Rodriguez CI, Andia I. Platelet Rich Plasma and Culture Configuration Affect the Matrix Forming Phenotype of Bone Marrow Stromal Cells. Tissue Eng Regen Med. 2017; 14(5): 567-577. DOI:10.1007/s13770-017-0062-1.

[. Looking Back: Aging and Regeneration. Cell Stem Cell. 2017; 20(6): 757-757

Klionsky DJ, Abdelmohsen K, Abe A, Abedin MDJ, Abeliovich H, Arozena AA, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016; 12(1): 1-222. DOI:10.1080/15548627.2015.1100356.

Gago Martinez A, Escontrela Rodriguez B, Planas Roca A, Martiez Ruiz A. Intravenous Ibuprofen for Treatment of Post-Operative Pain: A Multicenter, Double Blind, Placebo-Controlled, Randomized Clinical Trial. PLoS One. 2016; 11(5). DOI:10.1371/journal.pone.0154004.

Infante A, Rodríguez CI. Pathologically Relevant Prelamin A Interactions with Transcription Factors. Methods Enzymol. 2016; 569: 485-501. DOI:10.1016/bs.mie.2015.08.032.

Escontrela Rodríguez B, Gago Martínez A, Merino Julián I, Martínez Ruiz A. Spectral entropy in monitoring anesthetic depth. Rev Esp Anestesiol Reanim. 2016; 63(8): 471-478. DOI:10.1016/j.redar.2015.07.005.

Infante A, Rodriguez CI. Prelamin A and Oct-1: a puzzle of aging. Oncotarget. 2015; 6(6): 3475-3476. DOI:10.18632/oncotarget.3422.

Sánchez P, Infante A, de Eguino GR, Fuentes Maestre JA, García Verdugo JM, Rodríguez CI. Age-Related Lipid Metabolic Signature in Human LMNA-Lipodystrophic Stem Cell-Derived Adipocytes. J Clin Endocrinol Metab. 2015; 100(7): 964-973. DOI:10.1210/jc.2014-4528.

Infante A, Gago A, de Eguino GR, Calvo Fernández T, Gómez Vallejo V, Llop J, et al. Prelamin A accumulation and stress conditions induce impaired Oct-1 activity and autophagy in prematurely aged human mesenchymal stem cell. Aging (Albany NY). 2014; 6(4): 264-280. DOI:10.18632/aging.100651.

Gomez Sanchez C, Kowalczyk T, Ruiz De Eguino G, Lopez Arraiza A, Infante A, Rodriguez CI, et al. Electrospinning of poly(lactic acid)/polyhedral oligomeric silsesquioxane nanocomposites and their potential in chondrogenic tissue regeneration. J Biomater Sci-Polym Ed. 2014; 25(8): 802-825. DOI:10.1080/09205063.2014.910151.