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Year Number of Results
2004 1
2005 2
2007 2
2008 1
2009 4
2010 4
2011 4
2014 1
2015 4
2016 1
2017 2
2018 2
2019 3
2020 5
2021 5
2022 2
2023 6
2024 0

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45 results

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Page 1
Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage.
Danyukova T, Alimy AR, Velho RV, Yorgan TA, Di Lorenzo G, von Kroge S, Tidow H, Wiegert JS, Hermans-Borgmeyer I, Schinke T, Rolvien T, Pohl S. Danyukova T, et al. Among authors: pohl s. Bone. 2023 Dec;177:116927. doi: 10.1016/j.bone.2023.116927. Epub 2023 Oct 4. Bone. 2023. PMID: 37797712
Publisher Correction: Non-functional ubiquitin C-terminal hydrolase L1 drives podocyte injury through impairing proteasomes in autoimmune glomerulonephritis.
Reichelt J, Sachs W, Frömbling S, Fehlert J, Studencka-Turski M, Betz A, Loreth D, Blume L, Witt S, Pohl S, Brand J, Czesla M, Knop J, Florea BI, Zielinski S, Sachs M, Hoxha E, Hermans-Borgmeyer I, Zahner G, Wiech T, Krüger E, Meyer-Schwesinger C. Reichelt J, et al. Among authors: pohl s. Nat Commun. 2023 Apr 28;14(1):2453. doi: 10.1038/s41467-023-38206-0. Nat Commun. 2023. PMID: 37117182 Free PMC article. No abstract available.
Non-functional ubiquitin C-terminal hydrolase L1 drives podocyte injury through impairing proteasomes in autoimmune glomerulonephritis.
Reichelt J, Sachs W, Frömbling S, Fehlert J, Studencka-Turski M, Betz A, Loreth D, Blume L, Witt S, Pohl S, Brand J, Czesla M, Knop J, Florea BI, Zielinski S, Sachs M, Hoxha E, Hermans-Borgmeyer I, Zahner G, Wiech T, Krüger E, Meyer-Schwesinger C. Reichelt J, et al. Among authors: pohl s. Nat Commun. 2023 Apr 13;14(1):2114. doi: 10.1038/s41467-023-37836-8. Nat Commun. 2023. PMID: 37055432 Free PMC article.
Update on quality assurance in neuropathology: Summary of the round robin trials on TERT promoter mutation, H3-3A mutation, 1p/19q codeletion, and KIAA1549::BRAF fusion testing in Germany in 2020 and 2021.
Pohl S, Dimitrova L, Grassow-Narlik M, Jöhrens K, Acker T, Dohmen H, Herms J, Dorostkar M, Hartmann C, Hasselblatt M, Neumann M, Reifenberger G, Felsberg J, Schüller U, Zoubaa S, Lorenz J, Rothhammer-Hampl T, Mauch-Mücke K, Riemenschneider MJ. Pohl S, et al. Clin Neuropathol. 2023 May-Jun;42(3):112-121. doi: 10.5414/NP301547. Clin Neuropathol. 2023. PMID: 36999511
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Holling T, Bhavani GS, von Elsner L, Shah H, Kausthubham N, Bhattacharyya SS, Shukla A, Mortier GR, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha KM. Holling T, et al. Among authors: pohl s. Hum Mutat. 2022 May;43(5):625-642. doi: 10.1002/humu.24368. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266227
Site-1 and site-2 proteases: A team of two in regulated proteolysis.
Danyukova T, Schöneck K, Pohl S. Danyukova T, et al. Among authors: pohl s. Biochim Biophys Acta Mol Cell Res. 2022 Jan;1869(1):119138. doi: 10.1016/j.bbamcr.2021.119138. Epub 2021 Oct 5. Biochim Biophys Acta Mol Cell Res. 2022. PMID: 34619164 Free article. Review.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. Di Lorenzo G, et al. Among authors: pohl s. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E. Dogterom EJ, et al. Among authors: pohl s. Genet Med. 2021 Nov;23(11):2047-2056. doi: 10.1038/s41436-021-01244-4. Epub 2021 Jun 25. Genet Med. 2021. PMID: 34172897 Free article.
45 results