Escher, Pascal

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Dysli, Chantal-Simone; Schürch, Kaspar Werner; Escher, Pascal; Wolf, Sebastian; Zinkernagel, Martin (2018). Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa. Investigative ophthalmology & visual science, 59(5), pp. 1769-1778. Association for Research in Vision and Ophthalmology 10.1167/iovs.17-23336

Escher, Pascal; Passarin, Olga; Munier, Francis L; Tran, Viet H; Vaclavik, Veronika (2018). Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. Ophthalmic genetics, 39(1), pp. 80-86. Taylor & Francis 10.1080/13816810.2017.1393825


Olivares, Ana Maria; Han, Yinan; Soto, David; Flattery, Kyle; Marini, Joseph; Mollema, Nissa; Haider, Ali; Escher, Pascal; DeAngelis, Margaret M; Haider, Neena B (2017). The nuclear hormone receptor gene Nr2c1 (Tr2) is a critical regulator of early retina cell patterning. Developmental biology, 429(1), pp. 343-355. Elsevier 10.1016/j.ydbio.2017.05.021


Boulling, Arnaud; Escher, Pascal (2016). Coupling ex vivo electroporation of mouse retinas and luciferase reporter assays to assess rod-specific promoter activity. Experimental eye research, 148, pp. 79-82. Elsevier 10.1016/j.exer.2016.06.002

Escher, Pascal; Vaclavik, Veronika; Munier, Francis L; Tran, H Viet (2016). Presence of a Triple Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP). Investigative ophthalmology & visual science, 57(4), pp. 2001-2002. Association for Research in Vision and Ophthalmology 10.1167/iovs.16-19459


von Alpen, Désirée; Tran, Hoai Viet; Guex, Nicolas; Venturini, Giulia; Munier, Francis L; Schorderet, Daniel F; Haider, Neena B; Escher, Pascal (2015). Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain. Human mutation, 36(6), pp. 599-610. Wiley-Blackwell 10.1002/humu.22775


Schorderet, Daniel F; Bernasconi, Maude; Tiab, Leila; Favez, Tatiana; Escher, Pascal (2014). IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing. Advances in experimental medicine and biology, 801, pp. 171-176. Springer 10.1007/978-1-4614-3209-8_22

Cruz, Nelly M; Yuan, Yang; Leehy, Barrett D; Baid, Rinku; Kompella, Uday; DeAngelis, Margaret M; Escher, Pascal; Haider, Neena B (2014). Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease. PLoS ONE, 9(1), e87942. Public Library of Science 10.1371/journal.pone.0087942


Cottet, Sandra; Jüttner, René; Voirol, Nathalie; Chambon, Pierre; Rathjen, Fritz G; Schorderet, Daniel F; Escher, Pascal (2013). Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5. Molecular vision, 19, pp. 2312-2320. Emory University

Schorderet, Daniel F; Iouranova, Alexandra; Favez, Tatiana; Tiab, Leila; Escher, Pascal (2013). IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. BioMed research international, 2013(198089), p. 198089. Hindawi Publishing Corporation 10.1155/2013/198089


Escher, Pascal; Tran, Hoai V; Vaclavik, Veronika; Borruat, Francois X; Schorderet, Daniel F; Munier, Francis L (2012). Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science, 53(8), pp. 4754-4764. Association for Research in Vision and Ophthalmology 10.1167/iovs.11-8693

Schorderet, D.F.; Haider, N.; Escher, Pascal (2012). NR2E3-linked retinal degenerations: enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). In: Traboulsi, E.I. (ed.) Genetic diseases of the eye (pp. 437-447). Oxford: Oxford University Press

Marcelli, Fabienne; Escher, Pascal; Schorderet, Daniel F. (2012). Exploration of the Visual System: Part 2: In Vivo Analysis Methods: Virtual-Reality Optomotor System, Fundus Examination, and Fluorescent Angiography. In: Current Protocols in Mouse Biology 2 (pp. 207-2018). Wiley 10.1002/9780470942390.mo110177

Schorderet, D.; Daniel, S.; Bernasconi, M.; Tiab, L.; Voirol, N.; Favez, T.; Escher, Pascal (2012). IROme, un nouvel outil moléculaire pour le diagnostic des dystrophies de la rétine (DR). In: Ophta (S94-S94). Société Suisse d'Ophtalmologie


Escher, Pascal; Schorderet, Daniel F; Cottet, Sandra (2011). Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice. Investigative ophthalmology & visual science, 52(8), pp. 5933-5940. Association for Research in Vision and Ophthalmology 10.1167/iovs.10-6978

Mollema, Nissa J; Yuan, Yang; Jelcick, Austin S; Sachs, Andrew J; von Alpen, Désirée; Schorderet, Daniel; Escher, Pascal; Haider, Neena B (2011). Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina. PLoS ONE, 6(3), e17494. Public Library of Science 10.1371/journal.pone.0017494

Escher, Pascal; Schorderet, D.F. (2011). Exploration of the visual system: Part 1: Dissection of the mouse eye for RNA, protein, and histological analyses. In: Current Protocols in Mouse Biology 1 (pp. 445-462). Wiley 10.1002/9780470942390.mo110129

Tran, H.V.; Escher, Pascal; Vaclavik, V.; Favre, I.; Bajrami, H.; Borruat, F.X.; Schorderet, D.F.; Munier, F.L. (2011). Autofluorescence Study In NR2E3 p.G56R-linked Autosomal Dominant Retinitis Pigmentosa In A Single Kindred. In: ARVO E-Abstract 6604. Fort Lauderdale: Association for Research in Vision and Ophthalmology


Michaelides, Michel; Gaillard, Marie-Claire; Escher, Pascal; Tiab, Leila; Bedell, Matthew; Borruat, François-Xavier; Barthelmes, Daniel; Carmona, Ruben; Zhang, Kang; White, Edward; McClements, Michelle; Robson, Anthony G; Holder, Graham E; Bradshaw, Keith; Hunt, David M; Webster, Andrew R; Moore, Anthony T; Schorderet, Daniel F; Munier, Francis L (2010). The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Investigative ophthalmology & visual science, 51(9), pp. 4771-4780. Association for Research in Vision and Ophthalmology 10.1167/iovs.09-4561

Escher, Pascal; Von Alpen, D.; Voirol, N.; Favez, T.; Roduit, R.; Schorderet, D. (2010). Transcriptional Activation and Receptor Dimerization is Affected by Mutations in the NR2E3 Ligand-Binding Domain. In: Investigative Ophthalmology and Visual Science 51. ARVO E-Abstrat 4077/A504


Schorderet, Daniel F; Escher, Pascal (2009). NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Human mutation, 30(11), pp. 1475-1485. Wiley-Blackwell 10.1002/humu.21096

Roduit, Raphael; Escher, Pascal; Schorderet, Daniel F (2009). Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. PLoS ONE, 4(10), e7379. Public Library of Science 10.1371/journal.pone.0007379

Lain, Enzo; Carnejac, Soizic; Escher, Pascal; Wilson, Marieangela C; Lømo, Terje; Gajendran, Nadesan; Brenner, Hans Rudolf (2009). A novel role for embigin to promote sprouting of motor nerve terminals at the neuromuscular junction. Journal of biological chemistry, 284(13), pp. 8930-8939. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M809491200

Escher, Pascal; Gouras, Peter; Roduit, Raphaël; Tiab, Leila; Bolay, Sylvain; Delarive, Tania; Chen, Shiming; Tsai, Chih-Cheng; Hayashi, Masanori; Zernant, Jana; Merriam, Joanna E; Mermod, Nicolas; Allikmets, Rando; Munier, Francis L; Schorderet, Daniel F (2009). Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Human mutation, 30(3), pp. 342-351. Wiley-Blackwell 10.1002/humu.20858

Polok, Bozena; Escher, Pascal; Ambresin, Aude; Chouery, Eliane; Bolay, Sylvain; Meunier, Isabelle; Nan, Francis; Hamel, Christian; Munier, Francis L; Thilo, Bernard; Mégarbané, André; Schorderet, Daniel F (2009). Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. American journal of human genetics, 84(2), pp. 259-265. Cell Press 10.1016/j.ajhg.2009.01.006

Schorderet, D.F.; Polok, B.; Escher, Pascal; Favez, T.; Voirol, N.; Bolay, S.; Ambresin, A.; Hamel, C.; Mégarbane, A.; Munier, F.L. (2009). The metal ion binding protein Cnnm4 is mutated in rod-cone dystrophy/amelogenesis imperfecta syndrome. In: Investigative ophthalmology and visual science 50. ARVO E-Abstract 2324

Roduit, R.; Escher, Pascal; Emery, M.; Voirol, N.; Favez, T.; Schorderet, D.F. (2009). The DNA-binding domain (DBD) is essential for NR2E3 dimerization and interaction with Crx. In: Investigative ophthalmology and visual science 50. ARVO E-Abstract 5459

Escher, Pascal; Voirol, N.; Favez, T.; Roduit, R.; Schorderet, D.F. (2009). Functional analysis of disease-causing NR2E3 mutations. In: Investigative Ophthalmology and Visual Science 50. ARVO E-Abstract 2296


Yang, Zhenglin; Chen, Yali; Lillo, Concepcion; Chien, Jeremy; Yu, Zhengya; Michaelides, Michel; Klein, Martin; Howes, Kim A; Li, Yang; Kaminoh, Yuuki; Chen, Haoyu; Zhao, Chao; Chen, Yuhong; Al-Sheikh, Youssef Tawfik; Karan, Goutam; Corbeil, Denis; Escher, Pascal; Kamaya, Shin; Li, Chunmei; Johnson, Samantha; ... (2008). Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. Journal of clinical investigation, 118(8), pp. 2908-2916. American Society for Clinical Investigation 10.1172/JCI35891

Escher, Pascal; Schorderet, D.F. (2008). Génétique et pathologie vasculaire oculaire. In: Pournaras, C.J. (ed.) Pathologies vasculaires oculaires (pp. 219-228). Paris: Masson

Escher, Pascal; Cottet, Sandra; Aono, Saichiko; Oohira, Atsuhiko; Schorderet, Daniel F (2008). Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice. Molecular vision, 14, pp. 2126-2135. Emory University


Mandard, S; Stienstra, R; Escher, Pascal; Tan, N S; Kim, I; Gonzalez, F J; Wahli, W; Desvergne, B; Müller, M; Kersten, S (2007). Glycogen synthase 2 is a novel target gene of peroxisome proliferator-activated receptors. Cellular and molecular life sciences, 64(9), pp. 1145-1157. Springer 10.1007/s00018-007-7006-1


Zandbergen, Fokko; Mandard, Stéphane; Escher, Pascal; Tan, Nguan Soon; Patsouris, David; Jatkoe, Tim; Rojas-Caro, Sandra; Madore, Steve; Wahli, Walter; Tafuri, Sherrie; Müller, Michael; Kersten, Sander (2005). The G0/G1 switch gene 2 is a novel PPAR target gene. Biochemical journal, 392(Pt 2), pp. 313-324. Portland Press 10.1042/BJ20050636

Escher, Pascal; Lacazette, E; Courtet, M; Blindenbacher, A; Landmann, L; Bezakova, G; Lloyd, K C; Mueller, U; Brenner, H R (2005). Synapses form in skeletal muscles lacking neuregulin receptors. Science, 308(5730), pp. 1920-1923. American Association for the Advancement of Science 10.1126/science.1108258


Rieusset, Jennifer; Seydoux, Josiane; Anghel, Silvia I; Escher, Pascal; Michalik, Liliane; Soon Tan, Nguan; Metzger, Daniel; Chambon, Pierre; Wahli, Walter; Desvergne, Béatrice (2004). Altered growth in male peroxisome proliferator-activated receptor gamma (PPARgamma) heterozygous mice: involvement of PPARgamma in a negative feedback regulation of growth hormone action. Molecular endocrinology, 18(10), pp. 2363-2377. Endocrine Society 10.1210/me.2003-0325

Mandard, Stéphane; Zandbergen, Fokko; Tan, Nguan Soon; Escher, Pascal; Patsouris, David; Koenig, Wolfgang; Kleemann, Robert; Bakker, Arjen; Veenman, Frank; Wahli, Walter; Müller, Michael; Kersten, Sander (2004). The direct peroxisome proliferator-activated receptor target fasting-induced adipose factor (FIAF/PGAR/ANGPTL4) is present in blood plasma as a truncated protein that is increased by fenofibrate treatment. Journal of biological chemistry, 279(33), pp. 34411-34420. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M403058200

Patsouris, David; Mandard, Stéphane; Voshol, Peter J; Escher, Pascal; Tan, Nguan Soon; Havekes, Louis M; Koenig, Wolfgang; März, Winfried; Tafuri, Sherrie; Wahli, Walter; Müller, Michael; Kersten, Sander (2004). PPARalpha governs glycerol metabolism. Journal of clinical investigation, 114(1), pp. 94-103. American Society for Clinical Investigation 10.1172/JCI20468

Kersten, S.; Escher, Pascal; Tafuri, S.; Wahli, W. (2004). Understanding the coordinated effects of PPARs on lipid metabolism using microarrays. In: Berger, A.; Roberts, M.A. (eds.) Unraveling lipid metabolism with microarrays (pp. 249-263). New York: CRC Press


Rieusset, Jennifer; Touri, Fethi; Michalik, Liliane; Escher, Pascal; Desvergne, Béatrice; Niesor, Eric; Wahli, Walter (2002). A new selective peroxisome proliferator-activated receptor gamma antagonist with antiobesity and antidiabetic activity. Molecular endocrinology, 16(11), pp. 2628-2644. Endocrine Society 10.1210/me.2002-0036


Escher, Pascal; Braissant, O; Basu-Modak, S; Michalik, L; Wahli, W; Desvergne, B (2001). Rat PPARs: quantitative analysis in adult rat tissues and regulation in fasting and refeeding. Endocrinology, 142(10), pp. 4195-4202. Endocrine Society 10.1210/endo.142.10.8458

Kersten, S; Mandard, S; Escher, Pascal; Gonzalez, F J; Tafuri, S; Desvergne, B; Wahli, W (2001). The peroxisome proliferator-activated receptor alpha regulates amino acid metabolism. FASEB journal, 15(11), pp. 1971-1978. Federation of American Societies for Experimental Biology 10.1096/fj.01-0147com

Michalik, L; Desvergne, B; Tan, N S; Basu-Modak, S; Escher, Pascal; Rieusset, J; Peters, J M; Kaya, G; Gonzalez, F J; Zakany, J; Metzger, D; Chambon, P; Duboule, D; Wahli, W (2001). Impaired skin wound healing in peroxisome proliferator-activated receptor (PPAR)alpha and PPARbeta mutant mice. Journal of cell biology, 154(4), pp. 799-814. Rockefeller Institute Press 10.1083/jcb.200011148


Urban, F; Cavazos, G; Dunbar, J; Tan, B; Escher, Pascal; Tafuri, S; Wang, M (2000). The important role of residue F268 in ligand binding by LXRbeta. FEBS letters, 484(2), pp. 159-163. Elsevier

Kersten, S; Mandard, S; Tan, N S; Escher, Pascal; Metzger, D; Chambon, P; Gonzalez, F J; Desvergne, B; Wahli, W (2000). Characterization of the fasting-induced adipose factor FIAF, a novel peroxisome proliferator-activated receptor target gene. Journal of biological chemistry, 275(37), pp. 28488-28493. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M004029200

Escher, Pascal; Wahli, W (2000). Peroxisome proliferator-activated receptors: insight into multiple cellular functions. Mutation research - fundamental and molecular mechanisms of mutagenesis, 448(2), pp. 121-138. Elsevier


Basu-Modak, S; Braissant, O; Escher, Pascal; Desvergne, B; Honegger, P; Wahli, W (1999). Peroxisome proliferator-activated receptor beta regulates acyl-CoA synthetase 2 in reaggregated rat brain cell cultures. Journal of biological chemistry, 274(50), pp. 35881-35888. American Society for Biochemistry and Molecular Biology

Escher, Pascal (1999). Functional and structural analysis of peroxisome proliferator-activated receptors (PPARs). (Unpublished). (Dissertation, Université de Lausanne, Faculté des sciences)

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