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Page 1
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.
Kim W, Giannikou K, Dreier JR, Lee S, Tyburczy ME, Silverman EK, Radzikowska E, Wu S, Wu CL, Henske EP, Hunninghake G, Carel H, Roman A, Pujana MA, Moss J, Won S, Kwiatkowski DJ. Kim W, et al. Among authors: pujana ma. Eur Respir J. 2019 Jun 27;53(6):1900329. doi: 10.1183/13993003.00329-2019. Print 2019 Jun. Eur Respir J. 2019. PMID: 31000673 Free article.
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.
Lu Y, Beeghly-Fadiel A, Wu L, Guo X, Li B, Schildkraut JM, Im HK, Chen YA, Permuth JB, Reid BM, Teer JK, Moysich KB, Andrulis IL, Anton-Culver H, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Benitez J, Bjorge L, Brenton J, Butzow R, Caldes T, Caligo MA, Campbell I, Chang-Claude J, Claes KBM, Couch FJ, Cramer DW, Daly MB, deFazio A, Dennis J, Diez O, Domchek SM, Dörk T, Easton DF, Eccles DM, Fasching PA, Fortner RT, Fountzilas G, Friedman E, Ganz PA, Garber J, Giles GG, Godwin AK, Goldgar DE, Goodman MT, Greene MH, Gronwald J, Hamann U, Heitz F, Hildebrandt MAT, Høgdall CK, Hollestelle A, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James P, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Kwong A, Le ND, Leslie G, Lesueur F, Levine DA, Mattiello A, May T, McGuffog L, McNeish IA, Merritt MA, Modugno F, Montagna M, Neuhausen SL, Nevanlinna H, Nielsen FC, Nikitina-Zake L, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson SH, Olsson H, Osorio A, Park SK, Parsons MT, Peeters PHM, Pejovic T, Peterlongo P, Phelan CM, Pujana MA, Ramus SJ, Rennert G, Risch H, Rodriguez GC, Rodríguez-Antona C, Romieu I, Rookus MA, Rossing MA, Rzepecka IK, Sandler DP, Schmutzler RK, Se… See abstract for full author list ➔ Lu Y, et al. Among authors: pujana ma. Cancer Res. 2018 Sep 15;78(18):5419-5430. doi: 10.1158/0008-5472.CAN-18-0951. Epub 2018 Jul 27. Cancer Res. 2018. PMID: 30054336 Free PMC article.
Risk of breast cancer in patients with lymphangioleiomyomatosis.
Nuñez O, Baldi BG, Radzikowska E, Carvalho CRR, Herranz C, Sobiecka M, Torre O, Harari S, Vergeer MAMH, Kolbe J, Pollán M, Pujana MA. Nuñez O, et al. Among authors: pujana ma. Cancer Epidemiol. 2019 Aug;61:154-156. doi: 10.1016/j.canep.2019.06.004. Epub 2019 Jun 28. Cancer Epidemiol. 2019. PMID: 31260937
Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis.
Ogórek B, Hamieh L, Lasseter K, Bagwe S, Machado T, Herranz-Ors C, Thorner AR, Nag A, Gulleman P, Giannikou K, Young LR, Pujana MÀ, Darling TN, El-Chemaly S, Moss J, Henske EP, Kwiatkowski DJ. Ogórek B, et al. Among authors: pujana ma. Eur Respir J. 2019 Oct 10;54(4):1900938. doi: 10.1183/13993003.00938-2019. Print 2019 Oct. Eur Respir J. 2019. PMID: 31273045 Free PMC article. No abstract available.
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Cornelissen S, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Domchek SM, Dörk T, Dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles DM, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes WD, Friedman E, Fritschi L, Frost D… See abstract for full author list ➔ Fachal L, et al. Among authors: pujana ma. Nat Genet. 2020 Jan;52(1):56-73. doi: 10.1038/s41588-019-0537-1. Epub 2020 Jan 7. Nat Genet. 2020. PMID: 31911677 Free PMC article.
Heterogeneity and Cancer-Related Features in Lymphangioleiomyomatosis Cells and Tissue.
Espín R, Baiges A, Blommaert E, Herranz C, Roman A, Saez B, Ancochea J, Valenzuela C, Ussetti P, Laporta R, Rodríguez-Portal JA, van Moorsel CHM, van der Vis JJ, Quanjel MJR, Villar-Piqué A, Diaz-Lucena D, Llorens F, Casanova Á, Molina-Molina M, Plass M, Mateo F, Moss J, Pujana MA. Espín R, et al. Among authors: pujana ma. Mol Cancer Res. 2021 Nov;19(11):1840-1853. doi: 10.1158/1541-7786.MCR-21-0220. Epub 2021 Jul 26. Mol Cancer Res. 2021. PMID: 34312290 Free PMC article.
Histamine signaling and metabolism identify potential biomarkers and therapies for lymphangioleiomyomatosis.
Herranz C, Mateo F, Baiges A, Ruiz de Garibay G, Junza A, Johnson SR, Miller S, García N, Capellades J, Gómez A, Vidal A, Palomero L, Espín R, Extremera AI, Blommaert E, Revilla-López E, Saez B, Gómez-Ollés S, Ancochea J, Valenzuela C, Alonso T, Ussetti P, Laporta R, Xaubet A, Rodríguez-Portal JA, Montes-Worboys A, Machahua C, Bordas J, Menendez JA, Cruzado JM, Guiteras R, Bontoux C, La Motta C, Noguera-Castells A, Mancino M, Lastra E, Rigo-Bonnin R, Perales JC, Viñals F, Lahiguera A, Zhang X, Cuadras D, van Moorsel CHM, van der Vis JJ, Quanjel MJR, Filippakis H, Hakem R, Gorrini C, Ferrer M, Ugun-Klusek A, Billett E, Radzikowska E, Casanova Á, Molina-Molina M, Roman A, Yanes O, Pujana MA. Herranz C, et al. Among authors: pujana ma. EMBO Mol Med. 2021 Sep 7;13(9):e13929. doi: 10.15252/emmm.202113929. Epub 2021 Aug 11. EMBO Mol Med. 2021. PMID: 34378323 Free PMC article.
Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function.
Farré X, Espín R, Baiges A, Blommaert E, Kim W, Giannikou K, Herranz C, Román A, Sáez B, Casanova Á, Ancochea J, Valenzuela C, Ussetti P, Laporta R, Rodríguez-Portal JA, van Moorsel CHM, van der Vis JJ, Quanjel MJR, Tena-Garitaonaindia M, Sánchez de Medina F, Mateo F, Molina-Molina M, Won S, Kwiatkowski DJ, de Cid R, Pujana MA. Farré X, et al. Among authors: pujana ma. ERJ Open Res. 2022 Jan 24;8(1):00375-2021. doi: 10.1183/23120541.00375-2021. eCollection 2022 Jan. ERJ Open Res. 2022. PMID: 35083324 Free PMC article.
Integrating gene expression and epidemiological data for the discovery of genetic interactions associated with cancer risk.
Bonifaci N, Colas E, Serra-Musach J, Karbalai N, Brunet J, Gómez A, Esteller M, Fernández-Taboada E, Berenguer A, Reventós J, Müller-Myhsok B, Amundadottir L, Duell EJ, Pujana MÀ. Bonifaci N, et al. Among authors: pujana ma. Carcinogenesis. 2014 Mar;35(3):578-85. doi: 10.1093/carcin/bgt403. Epub 2013 Dec 2. Carcinogenesis. 2014. PMID: 24296589
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM; ABCTB Investigators; Adams M, Adlard J, Agata S, Ahmed S, Ahsan H, Aittomäki K, Al-Ejeh F, Allen J, Ambrosone CB, Amos CI, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Auber B, Auer PL, Ausems MGEM, Azzollini J, Bacot F, Balmaña J, Barile M, Barjhoux L, Barkardottir RB, Barrdahl M, Barnes D, Barrowdale D, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Bernstein L, Bignon YJ, Blazer KR, Blok MJ, Blomqvist C, Blot W, Bobolis K, Boeckx B, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Børresen-Dale AL, Bozsik A, Bradbury AR, Brand JS, Brauch H, Brenner H, Bressac-de Paillerets B, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Brunet J, Brüning T, Burwinkel B, Buys SS, Byun J, Cai Q, Caldés T, Caligo MA, Campbell I, Canzian F, Caron O, Carracedo A, Carter BD, Castelao JE, Castera L, Caux-Moncoutier V, Chan SB, Chang-Claude J, Chanock SJ, Chen X, Cheng TD, Chiquette J, Christiansen H, Claes KBM, Clarke CL, Conner T, Conroy DM, Cook J, Cordina-Duverger E, Cornelissen … See abstract for full author list ➔ Milne RL, et al. Among authors: pujana ma. Nat Genet. 2017 Dec;49(12):1767-1778. doi: 10.1038/ng.3785. Epub 2017 Oct 23. Nat Genet. 2017. PMID: 29058716 Free PMC article.
157 results