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493 results

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Page 1
Genetic insights into biological mechanisms governing human ovarian ageing.
Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, Gonzalez JM, Fontanillas P, Claringbould A, Bakker OB, Sulem P, Walters RG, Terao C, Turon S, Horikoshi M, Lin K, Onland-Moret NC, Sankar A, Hertz EPT, Timshel PN, Shukla V, Borup R, Olsen KW, Aguilera P, Ferrer-Roda M, Huang Y, Stankovic S, Timmers PRHJ, Ahearn TU, Alizadeh BZ, Naderi E, Andrulis IL, Arnold AM, Aronson KJ, Augustinsson A, Bandinelli S, Barbieri CM, Beaumont RN, Becher H, Beckmann MW, Benonisdottir S, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Boomsma DI, Bowker N, Brody JA, Broer L, Buring JE, Campbell A, Campbell H, Castelao JE, Catamo E, Chanock SJ, Chenevix-Trench G, Ciullo M, Corre T, Couch FJ, Cox A, Crisponi L, Cross SS, Cucca F, Czene K, Smith GD, de Geus EJCN, de Mutsert R, De Vivo I, Demerath EW, Dennis J, Dunning AM, Dwek M, Eriksson M, Esko T, Fasching PA, Faul JD, Ferrucci L, Franceschini N, Frayling TM, Gago-Dominguez M, Mezzavilla M, García-Closas M, Gieger C, Giles GG, Grallert H, Gudbjartsson DF, Gudnason V, Guénel P, Haiman CA, Håkansson N, Hall P, Hayward C, He C, He W, Heiss G, Høffding MK, Hopper JL, Hottenga JJ,… See abstract for full author list ➔ Ruth KS, et al. Among authors: pujol a. Nature. 2021 Aug;596(7872):393-397. doi: 10.1038/s41586-021-03779-7. Epub 2021 Aug 4. Nature. 2021. PMID: 34349265 Free PMC article.
Overexpressing high levels of human vaspin limits high fat diet-induced obesity and enhances energy expenditure in a transgenic mouse.
Rapöhn I, Elias I, Weiner J, Pujol A, Kehr S, Chadt A, Al-Hasani H, Burkhardt R, Klöting N, Stumvoll M, Bosch F, Kovacs P, Heiker JT, Breitfeld J. Rapöhn I, et al. Among authors: pujol a. Front Endocrinol (Lausanne). 2023 Apr 19;14:1146454. doi: 10.3389/fendo.2023.1146454. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37152954 Free PMC article.
Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.
Muñoz S, Bertolin J, Jimenez V, Jaén ML, Garcia M, Pujol A, Vilà L, Sacristan V, Barbon E, Ronzitti G, El Andari J, Tulalamba W, Pham QH, Ruberte J, VandenDriessche T, Chuah MK, Grimm D, Mingozzi F, Bosch F. Muñoz S, et al. Among authors: pujol a. Mol Metab. 2024 Mar;81:101899. doi: 10.1016/j.molmet.2024.101899. Epub 2024 Feb 10. Mol Metab. 2024. PMID: 38346589 Free PMC article.
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.
Cabrera-Alarcon JL, Cruz R, Rosa-Moreno M, Latorre-Pellicer A, de Almeida SD; Scourge Cohort Group; Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Sánchez-Cabo F, Carracedo Á, Enriquez JA. Cabrera-Alarcon JL, et al. Commun Biol. 2025 Jan 9;8(1):33. doi: 10.1038/s42003-024-07314-y. Commun Biol. 2025. PMID: 39789223 Free PMC article.
Molecular surveillance of Plasmodium falciparum histidine-rich protein 2/3 gene deletions in Mozambique, 2023.
da Silva C, Tembisse D, Cisteró P, Rovira-Vallbona E, Canana N, da Costa P, Matambisso G, Aranda-Díaz A, Mbeve H, Ndimande N, Timana A, Hunguana A, Boene S, Pujol A, Rafael B, Greenhouse B, Enosse S, Saúte F, Candrinho B, Mayor A. da Silva C, et al. Among authors: pujol a. Malar J. 2024 Dec 26;23(1):402. doi: 10.1186/s12936-024-05230-4. Malar J. 2024. PMID: 39725959 Free PMC article.
Plasmodium falciparum molecular surveillance to inform the Mozambican National Malaria Control Programme strategy: protocol.
da Silva C, Matambisso G, Boene S, Rovira-Vallbona E, Pujol A, Comiche K, Sánchez A, Greenhouse B, Chidimatembue A, Aranda-Díaz A, Arnaldo P, Ariani C, Walker P, Mbeve H, Ndimande N, Tembisse D, Ruybal-Pesántez S, Verity R, Rafael B, Candrinho B, Mayor A. da Silva C, et al. Among authors: pujol a. BMJ Open. 2024 Nov 24;14(11):e092590. doi: 10.1136/bmjopen-2024-092590. BMJ Open. 2024. PMID: 39581722 Free PMC article.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sanc… See abstract for full author list ➔ Bellos E, et al. Among authors: pujol a. J Exp Med. 2024 Dec 2;221(12):e20240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310 Free PMC article.
493 results