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Page 1
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group. Cornelis SS, et al. JAMA Ophthalmol. 2024 May 1;142(5):463-471. doi: 10.1001/jamaophthalmol.2024.0660. JAMA Ophthalmol. 2024. PMID: 38602673
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: weber bhf. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
Advani J, Mehta PA, Hamel AR, Mehrotra S, Kiel C, Strunz T, Corso-Díaz X, Kwicklis M, van Asten F, Ratnapriya R, Chew EY, Hernandez DG, Montezuma SR, Ferrington DA, Weber BHF, Segrè AV, Swaroop A. Advani J, et al. Among authors: weber bhf. Nat Commun. 2024 Mar 4;15(1):1972. doi: 10.1038/s41467-024-46063-8. Nat Commun. 2024. PMID: 38438351 Free PMC article.
The glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice.
Pfaller AM, Kaplan L, Carido M, Grassmann F, Díaz-Lezama N, Ghaseminejad F, Wunderlich KA, Glänzer S, Bludau O, Pannicke T, Weber BHF, Koch SF, Bonev B, Hauck SM, Grosche A. Pfaller AM, et al. Among authors: weber bhf. J Neuroinflammation. 2024 Jan 25;21(1):33. doi: 10.1186/s12974-024-03021-x. J Neuroinflammation. 2024. PMID: 38273366 Free PMC article.
Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease.
Cardon I, Grobecker S, Kücükoktay S, Bader S, Jahner T, Nothdurfter C, Koschitzki K, Berneburg M, Weber BHF, Stöhr H, Höring M, Liebisch G, Braun F, Rothammer-Hampl T, Riemenschneider MJ, Rupprecht R, Milenkovic VM, Wetzel CH. Cardon I, et al. Among authors: weber bhf. Int J Mol Sci. 2024 Jan 12;25(2):963. doi: 10.3390/ijms25020963. Int J Mol Sci. 2024. PMID: 38256041 Free PMC article.
Polarized Desmosome and Hemidesmosome Shedding via Small Extracellular Vesicles is an Early Indicator of Outer Blood-Retina Barrier Dysfunction.
Hernandez BJ, Skiba NP, Plössl K, Strain M, Liu Y, Grigsby D, Kelly U, Cady MA, Manocha V, Maminishkis A, Watkins T, Miller SS, Ashley-Koch A, Stamer WD, Weber BHF, Bowes Rickman C, Klingeborn M. Hernandez BJ, et al. Among authors: weber bhf. J Extracell Biol. 2023 Oct;2(10):e116. doi: 10.1002/jex2.116. Epub 2023 Oct 11. J Extracell Biol. 2023. PMID: 38108061 Free PMC article.
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z, Khan M, Hitti-Malin R, Mishra K, Whelan L, Cornelis SS; ABCA4-Study Group; Hoyng CB, Kämpjärvi K, Klaver CCW, Liskova P, Stöhr H, Weber BHF, Banfi S, Farrar GJ, Sharon D, Zernant J, Allikmets R, Dhaenens CM, Cremers FPM. Corradi Z, et al. Among authors: weber bhf. HGG Adv. 2023 Oct 12;4(4):100237. doi: 10.1016/j.xhgg.2023.100237. Epub 2023 Sep 12. HGG Adv. 2023. PMID: 37705246 Free PMC article.
Polarized Desmosome and Hemidesmosome Shedding via Exosomes is an Early Indicator of Outer Blood-Retina Barrier Dysfunction.
Hernandez BJ, Skiba NP, Plößl K, Strain M, Grigsby D, Kelly U, Cady MA, Manocha V, Maminishkis A, Watkins T, Miller SS, Ashley-Koch A, Stamer WD, Weber BHF, Rickman CB, Klingeborn M. Hernandez BJ, et al. Among authors: weber bhf. bioRxiv [Preprint]. 2023 Jun 13:2023.06.12.544677. doi: 10.1101/2023.06.12.544677. bioRxiv. 2023. PMID: 37398366 Free PMC article. Updated. Preprint.
Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer.
Rhiem K, Zachariae S, Waha A, Grill S, Hester A, Golatta M, van Mackelenbergh M, Fehm T, Schlaiß T, Ripperger T, Ledig S, Meisel C, Speiser D, Veselinovic K, Schröder C, Witzel I, Gallwas J, Weber BHF, Solbach C, Aktas B, Hahnen E, Engel C, Schmutzler R. Rhiem K, et al. Among authors: weber bhf. Breast Care (Basel). 2023 May;18(2):106-112. doi: 10.1159/000528972. Epub 2023 Jan 6. Breast Care (Basel). 2023. PMID: 37261134 Free PMC article.
247 results