Works matching DE "MEDICAL genetics"

Results: 5000
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    Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-08272-z
    By:
    • Heutinck, Pam A.T.;
    • Iglesias, Adriana I.;
    • Farhud, Dariush D.;
    • van Tienhoven, Marianne;
    • Khoshraftar, Atiyeh;
    • Zarif-Yeganeh, Marjan;
    • Kia, Sima Kheradmand;
    • Ghanbari, Mohsen;
    • Smoor, Magda A.;
    • Klaver, Caroline C.W.;
    • Hoefsloot, Lies H.;
    • Thiadens, Alberta A.H.J.;
    • Verhoeven, Virginie J.M.
    Publication type:
    Article
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    Overexpression of the STOX1B isoform of STOX1 triggers preeclampsia-like symptoms through HNF4α-dependent alterations of coagulation cascades in mice.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-07731-x
    By:
    • Collinot, Hélène;
    • Strubé, Louise;
    • Benouda, Ikram;
    • Castille, Johan;
    • Floriot, Sandrine;
    • Daniel-Carlier, Nathalie;
    • Passet, Bruno;
    • Lager, Franck;
    • Lagoutte, Isabelle;
    • Renault, Gilles;
    • Saintpierre, Benjamin;
    • Favier, Maryline;
    • Djeridane, Djihane;
    • Méhats, Céline;
    • Miralles, Francisco;
    • Vilotte, Jean-Luc;
    • Vaiman, Daniel
    Publication type:
    Article
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    A dynamic molecular landscape in colorectal cancer progression at single-cell resolution.

    Published in:
    Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06785-9
    By:
    • Sheng, Jianwen;
    • Li, Nianshuang;
    • Li, Shuai;
    • Ye, Yuman;
    • Liao, Yuanhang;
    • Zhang, Yupeng;
    • Chen, Huan;
    • Tu, Mengxian;
    • Zhong, Guping;
    • Xiong, Chaoliang;
    • Zheng, Pan;
    • Lei, Yuting;
    • He, Zekun;
    • He, Xingxing;
    • Zhang, Yao;
    • Wang, Lei;
    • Gao, Xiaolin;
    • Zhu, Yin;
    • Liu, Jianping;
    • Fan, Huizhen
    Publication type:
    Article
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    O-GlcNAcylation of FOXK1 co-opts BAP1 to orchestrate the E2F pathway and promotes oncogenesis.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61022-7
    By:
    • Ahmed, Oumaima;
    • Masclef, Louis;
    • Iannantuono, Nicholas;
    • Gagnon, Jessica;
    • Gushul-Leclaire, Mila;
    • Boulay, Karine;
    • Estavoyer, Benjamin;
    • Echbicheb, Mohamed;
    • Ali Boubacar, Kalidou;
    • Poy, Marty;
    • Boubekeur, Amina;
    • Menggad, Saad;
    • Schcolnik-Cabrera, Alejandro;
    • Balsalobre, Aurelio;
    • Bonneil, Eric;
    • Thibault, Pierre;
    • Hulea, Laura;
    • Mallette, Frédérick A.;
    • Drouin, Jacques;
    • Tanaka, Yoshiaki
    Publication type:
    Article
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    Divergent trajectories to structural diversity impact patient survival in high grade serous ovarian cancer.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60655-y
    By:
    • Ewing, Ailith;
    • Meynert, Alison;
    • Silk, Ryan;
    • Aitken, Stuart;
    • Bendixsen, Devin P.;
    • Churchman, Michael;
    • Brown, Stuart L.;
    • Hamdan, Alhafidz;
    • Mattocks, Joanne;
    • Grimes, Graeme R.;
    • Ballinger, Tracy;
    • Hollis, Robert L.;
    • Simon Herrington, C.;
    • Thomson, John P.;
    • Sherwood, Kitty;
    • Parry, Thomas;
    • Esiri-Bloom, Edward;
    • Bartos, Clare;
    • Croy, Ian;
    • Ferguson, Michelle
    Publication type:
    Article
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    Intraindividual epigenetic heterogeneity underlying phenotypic subtypes of advanced prostate cancer.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60654-z
    By:
    • Mizuno, Kei;
    • Ku, Sheng-Yu;
    • Venkadakrishnan, Varadha Balaji;
    • Bakht, Martin K.;
    • Sigouros, Michael;
    • Chan, Joanna;
    • Trigos, Anna;
    • Driskill, Jordan H.;
    • Manohar, Jyothi;
    • King, Abigail;
    • Presser, Adam G.;
    • Kim, Min Jin;
    • Tewari, Alok K.;
    • Long, Henry W.;
    • Quigley, David;
    • Choueiri, Toni K.;
    • Balk, Steven;
    • Hill, Sarah;
    • Mosquera, Juan Miguel;
    • Einstein, David
    Publication type:
    Article
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    Opposing role of phagocytic receptors MERTK and AXL in Progranulin deficient FTD.

    Published in:
    Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08368-2
    By:
    • Clelland, Claire Dudley;
    • Fan, Li;
    • Saloner, Rowan;
    • Etchegaray, Jon Iker;
    • Altobelli, Chad Richard;
    • Salomonsson, Sally;
    • Maltos, Alisha M.;
    • Sachdev, Aradhana;
    • Zhu, Jingjie;
    • Lee, Se-In;
    • Li, Yaqiao;
    • Zhou, Yungui;
    • Le, David;
    • Wang, Chao;
    • Carling, Gillian;
    • Kodama, Lay;
    • Sayed, Faten;
    • Perez-Bermejo, Jaun A.;
    • Geier, Ethan G.;
    • Yokoyama, Jennifer S.
    Publication type:
    Article
    20

    FAM72A promotes UNG2 degradation and mutagenesis in human cancer cells.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-07723-x
    By:
    • Feng, Yuqing;
    • Barbulescu, Philip;
    • Chana, Chetan K.;
    • Shirdarreh, Melika;
    • Yang, Hong;
    • Wu, Lizhen;
    • Mamand, Sami;
    • Kashem, Mohammad;
    • Zia, Amin;
    • Han, Ming;
    • Tsao, Julissa;
    • Pugh, Trevor;
    • Cescon, David;
    • Schatz, David G.;
    • Sicheri, Frank;
    • Martin, Alberto;
    • Pezo, Rossanna C.
    Publication type:
    Article
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    Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00508-1
    By:
    • Lucas Beckett, Isabelle A.;
    • Emery, Kate R.;
    • Wagner, Josiah T.;
    • Jade, Kathleen;
    • Cosgrove, Benjamin A.;
    • Welle, John;
    • Rinaldi, JB;
    • Dickey, Lindsay;
    • Jones, Kyle;
    • Wagner, Nick;
    • Shull, Eric M.;
    • Clemens, Jon;
    • Trachana, Kalliopi;
    • Anderson, Lance;
    • Kudla, Allison;
    • Smith, Brett;
    • Verespej, Hakon;
    • Yuan, Li Chi;
    • Denne, Elizabeth;
    • Ramos, Erica
    Publication type:
    Article
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