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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1950 1
1951 1
1952 3
1953 3
1954 2
1955 4
1956 4
1957 8
1958 4
1963 1
1965 2
1966 8
1967 7
1968 6
1969 6
1970 6
1971 4
1972 3
1973 2
1974 11
1975 9
1976 6
1977 5
1978 5
1979 2
1980 5
1981 2
1982 3
1983 3
1984 2
1985 3
1986 2
1987 3
1988 10
1989 7
1990 3
1991 4
1993 8
1994 8
1995 4
1996 1
1997 7
1998 6
1999 9
2000 9
2001 12
2002 9
2003 10
2004 5
2005 13
2006 9
2007 10
2008 9
2009 5
2010 15
2011 15
2012 19
2013 26
2014 26
2015 28
2016 39
2017 37
2018 32
2019 36
2020 48
2021 62
2022 69
2023 54
2024 53
2025 3

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784 results

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Page 1
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: kruger e. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. Update in: Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077 PMID: 37398376 Free PMC article. Updated. Preprint.
Immunoproteasome function maintains oncogenic gene expression in KMT2A-complex driven leukemia.
Tubío-Santamaría N, Jayavelu AK, Schnoeder TM, Eifert T, Hsu CJ, Perner F, Zhang Q, Wenge DV, Hansen FM, Kirkpatrick JM, Jyotsana N, Lane SW, von Eyss B, Deshpande AJ, Kühn MWM, Schwaller J, Cammann C, Seifert U, Ebstein F, Krüger E, Hochhaus A, Heuser M, Ori A, Mann M, Armstrong SA, Heidel FH. Tubío-Santamaría N, et al. Among authors: kruger e. Mol Cancer. 2023 Dec 4;22(1):196. doi: 10.1186/s12943-023-01907-7. Mol Cancer. 2023. PMID: 38049829 Free PMC article.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: kruger e. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Proteomic and transcriptomic profiling of brainstem, cerebellum and olfactory tissues in early- and late-phase COVID-19.
Radke J, Meinhardt J, Aschman T, Chua RL, Farztdinov V, Lukassen S, Ten FW, Friebel E, Ishaque N, Franz J, Huhle VH, Mothes R, Peters K, Thomas C, Schneeberger S, Schumann E, Kawelke L, Jünger J, Horst V, Streit S, von Manitius R, Körtvélyessy P, Vielhaber S, Reinhold D, Hauser AE, Osterloh A, Enghard P, Ihlow J, Elezkurtaj S, Horst D, Kurth F, Müller MA, Gassen NC, Melchert J, Jechow K, Timmermann B, Fernandez-Zapata C, Böttcher C, Stenzel W, Krüger E, Landthaler M, Wyler E, Corman V, Stadelmann C, Ralser M, Eils R, Heppner FL, Mülleder M, Conrad C, Radbruch H. Radke J, et al. Among authors: kruger e. Nat Neurosci. 2024 Mar;27(3):409-420. doi: 10.1038/s41593-024-01573-y. Epub 2024 Feb 16. Nat Neurosci. 2024. PMID: 38366144
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F, Latypova X, Sharon Hung KY, Prado MA, Lee BH, Möller S, Wendlandt M, Zieba BA, Florenceau L, Vignard V, Poirier L, Toutain B, Moroni I, Dubucs C, Chassaing N, Horvath J, Prokisch H, Küry S, Bézieau S, Paulo JA, Finley D, Krüger E, Ghezzi D, Isidor B. Ebstein F, et al. Among authors: kruger e. Genet Med. 2024 Jun;26(6):101120. doi: 10.1016/j.gim.2024.101120. Epub 2024 Mar 10. Genet Med. 2024. PMID: 38469793 Free PMC article.
20S proteasome biogenesis.
Krüger E, Kloetzel PM, Enenkel C. Krüger E, et al. Biochimie. 2001 Mar-Apr;83(3-4):289-93. doi: 10.1016/s0300-9084(01)01241-x. Biochimie. 2001. PMID: 11295488 Review.
The proteasome modulates endocytosis specifically in glomerular cells to promote kidney filtration.
Sachs W, Blume L, Loreth D, Schebsdat L, Hatje F, Koehler S, Wedekind U, Sachs M, Zieliniski S, Brand J, Conze C, Florea BI, Heppner F, Krüger E, Rinschen MM, Kretz O, Thünauer R, Meyer-Schwesinger C. Sachs W, et al. Among authors: kruger e. Nat Commun. 2024 Mar 1;15(1):1897. doi: 10.1038/s41467-024-46273-0. Nat Commun. 2024. PMID: 38429282 Free PMC article.
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: kruger e. Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775
Activating the NFE2L1-ubiquitin-proteasome system by DDI2 protects from ferroptosis.
Ofoghi A, Kotschi S, Lemmer IL, Haas DT, Willemsen N, Bayer B, Jung AS, Möller S, Haberecht-Müller S, Krüger E, Krahmer N, Bartelt A. Ofoghi A, et al. Among authors: kruger e. Cell Death Differ. 2024 Oct 9. doi: 10.1038/s41418-024-01398-z. Online ahead of print. Cell Death Differ. 2024. PMID: 39384955
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Deb W, Rosenfelt C, Vignard V, Papendorf JJ, Möller S, Wendlandt M, Studencka-Turski M, Cogné B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katrínardóttir H, Friðriksdóttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, Bézieau S, Krüger E, Küry S, Ebstein F. Deb W, et al. Among authors: kruger e. Am J Hum Genet. 2024 Jul 11;111(7):1352-1369. doi: 10.1016/j.ajhg.2024.05.016. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866022 Free PMC article.
784 results