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Page 1
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: sticht h. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, Feldman HB, Horn AHC, Hurst ACE, Kelly MA, Kruer MC, Kurolap A, Laquerriere A, Li M, Mark PR, Morawski M, Nizon M, Pastinen T, Polster T, Saugier-Veber P, SeSong J, Sticht H, Stieler JT, Thifffault I, van Eyk CL, Marcorelles P, Vezain-Mouchard M, Abou Jamra R, Oppermann H. Herbst C, et al. Among authors: sticht h. Hum Genet. 2024 Mar;143(3):455-469. doi: 10.1007/s00439-024-02655-4. Epub 2024 Mar 25. Hum Genet. 2024. PMID: 38526744 Free PMC article.
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: sticht h. Brain. 2024 Mar 15:awae085. doi: 10.1093/brain/awae085. Online ahead of print. Brain. 2024. PMID: 38489591
Cancer-associated SNPs in bacteria: lessons from Helicobacter pylori.
Linz B, Sticht H, Tegtmeyer N, Backert S. Linz B, et al. Among authors: sticht h. Trends Microbiol. 2024 Mar 13:S0966-842X(24)00041-6. doi: 10.1016/j.tim.2024.02.001. Online ahead of print. Trends Microbiol. 2024. PMID: 38485609 Free article. Review.
Light-dependent regulation of neurotransmitter release from rod photoreceptor ribbon synapses involves an interplay of Complexin 4 and Transducin with the SNARE complex.
Lux UT, Meyer J, Jahn O, Davison A, Babai N, Gießl A, Wartenberg A, Sticht H, Brose N, Reim K, Brandstätter JH. Lux UT, et al. Among authors: sticht h. Front Mol Neurosci. 2024 Feb 28;17:1308466. doi: 10.3389/fnmol.2024.1308466. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38481472 Free PMC article.
Cytomegalovirus cyclin-dependent kinase ortholog vCDK/pUL97 undergoes regulatory interaction with human cyclin H and CDK7 to codetermine viral replication efficiency.
Schütz M, Wangen C, Sommerer M, Kögler M, Eickhoff J, Degenhart C, Klebl B, Naing Z, Egilmezer E, Hamilton ST, Rawlinson WD, Sticht H, Marschall M. Schütz M, et al. Among authors: sticht h. Virus Res. 2023 Oct 2;335:199200. doi: 10.1016/j.virusres.2023.199200. Epub 2023 Aug 19. Virus Res. 2023. PMID: 37591314 Free PMC article.
332 results