Weber BHF - Search Results

1

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

Nachtigal AL, Milenkovic A, Brandl C, Schulz HL, Duerr LMJ, Lang GE, Reiff C, Herrmann P, Kellner U, Weber BHF. Nachtigal AL, et al. Among authors: weber bhf. Int J Mol Sci. 2020 Feb 26;21(5):1597. doi: 10.3390/ijms21051597. Int J Mol Sci. 2020. PMID: 32111077 Free PMC article.

2

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.

Hufendiek K, Hufendiek K, Jägle H, Stöhr H, Book M, Spital G, Rustambayova G, Framme C, Weber BHF, Renner AB, Kellner U. Hufendiek K, et al. Among authors: weber bhf. Int J Mol Sci. 2020 Dec 8;21(24):9353. doi: 10.3390/ijms21249353. Int J Mol Sci. 2020. PMID: 33302512 Free PMC article.

3

[Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].

Milenkovic A, Brandl C, Nachtigal AL, Kellner U, Weber BHF. Milenkovic A, et al. Among authors: weber bhf. Klin Monbl Augenheilkd. 2020 Mar;237(3):259-266. doi: 10.1055/a-1065-2129. Epub 2020 Mar 2. Klin Monbl Augenheilkd. 2020. PMID: 32120431 Review. German.

4

In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC).

Brandl C, Zimmermann SJ, Milenkovic VM, Rosendahl SM, Grassmann F, Milenkovic A, Hehr U, Federlin M, Wetzel CH, Helbig H, Weber BH. Brandl C, et al. Neuromolecular Med. 2014 Sep;16(3):551-64. doi: 10.1007/s12017-014-8308-8. Epub 2014 May 7. Neuromolecular Med. 2014. PMID: 24801942 Free PMC article.

5

Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.

Milenkovic A, Brandl C, Milenkovic VM, Jendryke T, Sirianant L, Wanitchakool P, Zimmermann S, Reiff CM, Horling F, Schrewe H, Schreiber R, Kunzelmann K, Wetzel CH, Weber BH. Milenkovic A, et al. Proc Natl Acad Sci U S A. 2015 May 19;112(20):E2630-9. doi: 10.1073/pnas.1418840112. Epub 2015 May 4. Proc Natl Acad Sci U S A. 2015. PMID: 25941382 Free PMC article.

6

Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.

Kellner S, Stöhr H, Fiebig B, Weinitz S, Farmand G, Kellner U, Weber BH. Kellner S, et al. Ophthalmic Genet. 2016 Jun;37(2):201-8. doi: 10.3109/13816810.2015.1033556. Epub 2016 Jan 15. Ophthalmic Genet. 2016. PMID: 26771239

7

[Personalized Ophthalmology - Induced Pluripotent Stem Cells for In Vitro Modelling of Retinal Degenerative Diseases].

Brandl C, Weber BHF. Brandl C, et al. Among authors: weber bhf. Klin Monbl Augenheilkd. 2018 Mar;235(3):301-308. doi: 10.1055/s-0043-125081. Epub 2018 Feb 16. Klin Monbl Augenheilkd. 2018. PMID: 29452453 Review. German.

8

BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.

Milenkovic A, Milenkovic VM, Wetzel CH, Weber BHF. Milenkovic A, et al. Among authors: weber bhf. Hum Mol Genet. 2018 May 1;27(9):1630-1641. doi: 10.1093/hmg/ddy070. Hum Mol Genet. 2018. PMID: 29668979 Free PMC article.

9

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).

Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH. Grassmann F, et al. Neuromolecular Med. 2015 Jun;17(2):111-20. doi: 10.1007/s12017-015-8342-1. Epub 2015 Feb 14. Neuromolecular Med. 2015. PMID: 25680934 Free PMC article.

10

[Hereditary retinal dystrophies].

Kellner U, Renner AB, Herbst SM, Kellner S, Weinitz S, Weber BH. Kellner U, et al. Klin Monbl Augenheilkd. 2012 Feb;229(2):171-93; quiz 194-6. doi: 10.1055/s-0031-1280461. Epub 2012 Jan 12. Klin Monbl Augenheilkd. 2012. PMID: 22241577 Review. German. No abstract available.

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