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COPI vesicle formation and N-myristoylation are targetable vulnerabilities of senescent cells.
McHugh D, Sun B, Gutierrez-Muñoz C, Hernández-González F, Mellone M, Guiho R, Duran I, Pombo J, Pietrocola F, Birch J, Kallemeijn WW, Khadayate S, Dharmalingam G, Vernia S, Tate EW, Martínez-Barbera JP, Withers DJ, Thomas GJ, Serrano M, Gil J. McHugh D, et al. Among authors: martinez barbera jp. Nat Cell Biol. 2023 Dec;25(12):1804-1820. doi: 10.1038/s41556-023-01287-6. Epub 2023 Nov 27. Nat Cell Biol. 2023. PMID: 38012402 Free PMC article.
Heterozygous mutations of OTX2 cause severe ocular malformations.
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Ragge NK, et al. Am J Hum Genet. 2005 Jun;76(6):1008-22. doi: 10.1086/430721. Epub 2005 Apr 21. Am J Hum Genet. 2005. PMID: 15846561 Free PMC article.
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P, Martinez-Barbera JP, Guiochon-Mantel A, Brue T. Reynaud R, et al. J Clin Endocrinol Metab. 2012 Jun;97(6):E1068-73. doi: 10.1210/jc.2011-3056. Epub 2012 Mar 30. J Clin Endocrinol Metab. 2012. PMID: 22466334
Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans.
Gaston-Massuet C, Andoniadou CL, Signore M, Jayakody SA, Charolidi N, Kyeyune R, Vernay B, Jacques TS, Taketo MM, Le Tissier P, Dattani MT, Martinez-Barbera JP. Gaston-Massuet C, et al. Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11482-7. doi: 10.1073/pnas.1101553108. Epub 2011 Jun 2. Proc Natl Acad Sci U S A. 2011. PMID: 21636786 Free PMC article.
Molecular genetics of septo-optic dysplasia.
Dattani ML, Martinez-Barbera J, Thomas PQ, Brickman JM, Gupta R, Wales JK, Hindmarsh PC, Beddington RS, Robinson IC. Dattani ML, et al. Horm Res. 2000;53 Suppl 1:26-33. doi: 10.1159/000053201. Horm Res. 2000. PMID: 10895039 Review.
108 results