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Herbert Jägle
Herbert Jägle
Professor of Pediatric Ophthalmology, University Eye Clinic, University Regensburg
在 ukr.de 的电子邮件经过验证
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Opsin genes, cone photopigments, color vision, and color blindness
LT Sharpe, A Stockman, H Jägle, J Nathans
Color vision: From genes to perception 351, 3-52, 1999
5281999
Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
S Kohl, T Marx, I Giddings, H Jägle, SG Jacobson, E Apfelstedt-Sylla, ...
Nature genetics 19 (3), 257-259, 1998
4181998
CNGA3 mutations in hereditary cone photoreceptor disorders
B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ...
The American Journal of Human Genetics 69 (4), 722-737, 2001
3632001
Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to …
S Kohl, B Baumann, M Broghammer, H Jägle, P Sieving, U Kellner, ...
Human molecular genetics 9 (14), 2107-2116, 2000
3622000
A luminous efficiency function, V*(λ), for daylight adaptation
LT Sharpe, A Stockman, W Jagla, H Jägle
Journal of vision 5 (11), 3-3, 2005
3172005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
S Kohl, B Varsanyi, GA Antunes, B Baumann, CB Hoyng, H Jägle, ...
European Journal of Human Genetics 13 (3), 302-308, 2005
2782005
Reorganization of human cortical maps caused by inherited photoreceptor abnormalities
HA Baseler, AA Brewer, LT Sharpe, AB Morland, H Jägle, BA Wandell
Nature neuroscience 5 (4), 364-370, 2002
2092002
Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities
LT Sharpe, A Stockman, H Jägle, H Knau, G Klausen, A Reitner, ...
Journal of Neuroscience 18 (23), 10053-10069, 1998
1591998
Mutation spectrum of the ABCA4 gene in 335 Stargardt disease patients from a multicenter German cohort—impact of selected deep intronic variants and common SNPs
HL Schulz, F Grassmann, U Kellner, G Spital, K Rüther, H Jägle, ...
Investigative ophthalmology & visual science 58 (1), 394-403, 2017
1282017
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ...
Genetics in Medicine 22 (7), 1235-1246, 2020
1122020
Achromatopsia
S Kohl, H Jägle, B Wissinger, D Zobor
842018
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium‐mediated regulation of guanylate cyclase
VBD Kitiratschky, P Behnen, U Kellner, JR Heckenlively, E Zrenner, ...
Human mutation 30 (8), E782-E796, 2009
842009
Visual short-term effects of Viagra: double-blind study in healthy young subjects
H Jägle, C Jägle, L Sérey, A Yu, A Rilk, B Sadowski, D Besch, E Zrenner, ...
American journal of ophthalmology 137 (5), 842-849, 2004
832004
Progressive retinal degeneration and glial activation in the CLN6 nclf mouse model of neuronal ceroid Lipofuscinosis: a beneficial effect of DHA and curcumin supplementation
M Mirza, C Volz, M Karlstetter, M Langiu, A Somogyi, MO Ruonala, ...
PloS one 8 (10), e75963, 2013
822013
Macular pigment densities derived from central and peripheral spectral sensitivity differences
LT Sharpe, A Stockman, H Knau, H Jägle
Vision Research 38 (21), 3233-3239, 1998
821998
Molecular basis of an inherited form of incomplete achromatopsia
D Tränkner, H Jägle, S Kohl, E Apfelstedt-Sylla, LT Sharpe, UB Kaupp, ...
Journal of Neuroscience 24 (1), 138-147, 2004
792004
Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage
BM Braunger, A Ohlmann, M Koch, N Tanimoto, C Volz, Y Yang, MR Bösl, ...
Neurobiology of disease 50, 1-12, 2013
762013
Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11
B Wissinger, H Jägle, S Kohl, M Broghammer, B Baumann, DB Hanna, ...
Genomics 51 (3), 325-331, 1998
761998
TGF-β signaling protects retinal neurons from programmed cell death during the development of the mammalian eye
BM Braunger, S Pielmeier, C Demmer, V Landstorfer, D Kawall, ...
Journal of Neuroscience 33 (35), 14246-14258, 2013
732013
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
VBD Kitiratschky, T Grau, A Bernd, E Zrenner, H Jägle, AB Renner, ...
European journal of human genetics 16 (7), 812-819, 2008
712008
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