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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.
García M, Barrio R, García-Lavandeira M, Garcia-Rendueles AR, Escudero A, Díaz-Rodríguez E, Gorbenko Del Blanco D, Fernández A, de Rijke YB, Vallespín E, Nevado J, Lapunzina P, Matre V, Hinkle PM, Hokken-Koelega AC, de Miguel MP, Cameselle-Teijeiro JM, Nistal M, Alvarez CV, Moreno JC. García M, et al. Among authors: gorbenko del blanco d. Sci Rep. 2017 Mar 6;7:42937. doi: 10.1038/srep42937. Sci Rep. 2017. PMID: 28262687 Free PMC article.
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.
Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE. Aza-Carmona M, et al. Among authors: gorbenko del blanco d. PLoS One. 2014 Jan 8;9(1):e83104. doi: 10.1371/journal.pone.0083104. eCollection 2014. PLoS One. 2014. PMID: 24421874 Free PMC article.
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: gorbenko del blanco d. Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175500 Free PMC article.
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M, Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Among authors: gorbenko del blanco d. Am J Hum Genet. 2006 Aug;79(2):409-14; author reply 414. doi: 10.1086/506390. Am J Hum Genet. 2006. PMID: 16826534 Free PMC article. No abstract available.
Vascular smooth muscle cell phenotypic changes in patients with Marfan syndrome.
Crosas-Molist E, Meirelles T, López-Luque J, Serra-Peinado C, Selva J, Caja L, Gorbenko Del Blanco D, Uriarte JJ, Bertran E, Mendizábal Y, Hernández V, García-Calero C, Busnadiego O, Condom E, Toral D, Castellà M, Forteza A, Navajas D, Sarri E, Rodríguez-Pascual F, Dietz HC, Fabregat I, Egea G. Crosas-Molist E, et al. Among authors: gorbenko del blanco d. Arterioscler Thromb Vasc Biol. 2015 Apr;35(4):960-72. doi: 10.1161/ATVBAHA.114.304412. Epub 2015 Jan 15. Arterioscler Thromb Vasc Biol. 2015. PMID: 25593132
Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome.
Busnadiego O, Gorbenko Del Blanco D, González-Santamaría J, Habashi JP, Calderon JF, Sandoval P, Bedja D, Guinea-Viniegra J, Lopez-Cabrera M, Rosell-Garcia T, Snabel JM, Hanemaaijer R, Forteza A, Dietz HC, Egea G, Rodriguez-Pascual F. Busnadiego O, et al. Among authors: gorbenko del blanco d. J Mol Cell Cardiol. 2015 Aug;85:48-57. doi: 10.1016/j.yjmcc.2015.05.008. Epub 2015 May 16. J Mol Cell Cardiol. 2015. PMID: 25988230 Free article.
15 results