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2. Eight previously unidentified mutations found in the OA1 ocular albinism gene

Author

Dufier Jean-Louis, Kaplan Josseline, Mezer Eedy, Said Edith, Lacombe Didier, Sutherland Joanne, Levin Alex V, Héon Elise, Bonneau Dominique, Munier Francis L, Schorderet Daniel F, Dollfus Hélène, Marchant Dominique, Jaliffa Carolina, Vêtu Christelle, Roche Olivier, Mayeur Hélène, Marsac Cécile, Menasche Maurice, and Abitbol Marc

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. Methods The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. Results We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. Conclusion The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.

Published
2006
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3. A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Author

Chao, Ryan, Nevin, Linda, Agarwal, Pooja, Riemer, Jan, Bai, Xiaoyang, Delaney, Allen, Akana, Matthew, JimenezLopez, Nelson, Bardakjian, Tanya, Schneider, Adele, Chassaing, Nicolas, Schorderet, Daniel F, FitzPatrick, David, Kwok, Pui-yan, Ellgaard, Lars, Gould, Douglas B, Zhang, Yan, Malicki, Jarema, Baier, Herwig, and Slavotinek, Anne

Subjects
Eye, Animals, Zebrafish, Humans, Mice, Anophthalmos, Coloboma, Microphthalmos, Homeodomain Proteins, Transcription Factors, Oligonucleotides, Antisense, RNA, Messenger, Organ Size, Oligonucleotide Array Sequence Analysis, In Situ Hybridization, DNA Mutational Analysis, Gene Expression Regulation, Developmental, Sequence Deletion, Base Sequence, Base Pairing, Larva, Phenotype, Molecular Sequence Data, Infant, Male, Protein Disulfide-Isomerases, LIM-Homeodomain Proteins, General Science & Technology
Abstract

Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his mother. In-situ hybridization showed that one of the deleted genes, TMX3, was expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye. We re-sequenced TMX3 in 162 patients with anophthalmia or microphthalmia, and found two missense substitutions in unrelated patients: c.116G>A, predicting p.Arg39Gln, in a male with unilateral microphthalmia and retinal coloboma, and c.322G>A, predicting p.Asp108Asn, in a female with unilateral microphthalmia and severe micrognathia. We used two antisense morpholinos targeted against the zebrafish TMX3 orthologue, zgc:110025, to examine the effects of reduced gene expression in eye development. We noted that the morphant larvae resulting from both morpholinos had significantly smaller eye sizes and reduced labeling with islet-1 antibody directed against retinal ganglion cells at 2 days post fertilization. Co-injection of human wild type TMX3 mRNA rescued the small eye phenotype obtained with both morpholinos, whereas co-injection of human TMX3(p.Arg39Gln) mutant mRNA, analogous to the mutation in the patient with microphthalmia and coloboma, did not rescue the small eye phenotype. Our results show that haploinsufficiency for TMX3 results in a small eye phenotype and represents a novel genetic cause of microphthalmia and coloboma. Future experiments to determine if other thioredoxins are important in eye morphogenesis and to clarify the mechanism of function of TMX3 in eye development are warranted.

Published
2010

6. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Author

Black, Graeme, Hall, Georgina, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Lord, Emma, Nemeth, Andrea, Halford, Stephanie, Downes, Susan, Yu, Jing, Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, and Schorderet, Daniel F.

Published
2017
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10. Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1

Author

Sallo, Ferenc B, primary, Dysli, Chantal, additional, Holzer, Franz Josef, additional, Ranza, Emmanuelle, additional, Guipponi, Michel, additional, Antonarakis, Stylianos E, additional, Munier, Francis L, additional, Bird, Alan C, additional, Schorderet, Daniel F, additional, Rossillion, Beatrice, additional, and Vaclavik, Veronika, additional

Published
2023
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16. Lentiviral Vectors Containing a Retinal Pigment Epithelium Specific Promoter for Leber Congenital Amaurosis Gene Therapy : Lentiviral gene therapy for LCA

Author

Bemelmans, Alexis-Pierre, Kostic, Corinne, Hornfeld, Dana, Jaquet, Muriel, Crippa, Sylvain V., Hauswirth, William W., Lem, Janis, Wang, Zhongyan, Schorderet, Daniel F., Munier, Francis L., Wenzel, Andreas, Arsenijevic, Yvan, Back, Nathan, editor, Cohen, Irun R., editor, Kritchevsky, David, editor, Lajtha, Abel, editor, Paoletti, Rodolfo, editor, Hollyfield, Joe G., editor, Anderson, Robert E., editor, and LaVail, Matthew M., editor

Published
2006
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17. Bmi1 Loss Delays Photoreceptor Degeneration in Rd1 Mice : Bmi1 loss and neuroprotection in Rd1 mice

Author

Zencak, Dusan, Crippa1, Sylvain V., Tekaya, Meriem, Tanger, Ellen, Schorderet, Daniel F., Munier, Francis L., van Lohuizen, Maarten, Arsenijevic, Yvan, Back, Nathan, editor, Cohen, Irun R., editor, Kritchevsky, David, editor, Lajtha, Abel, editor, Paoletti, Rodolfo, editor, Hollyfield, Joe G., editor, Anderson, Robert E., editor, and LaVail, Matthew M., editor

Published
2006
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20. Franceschetti Hereditary Recurrent Corneal Erosion

Author

Lisch, Walter, Bron, Anthony J., Munier, Francis L., Schorderet, Daniel F., Tiab, Leila, Lange, Clemens, Saikia, Parykshit, Reinhard, Thomas, Weiss, Jayne S., Gundlach, Enken, Pleyer, Uwe, Lisch, Christina, and Auw-Haedrich, Claudia

Published
2012
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23. Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

Author

Poncet, Anaïs F., primary, Grunewald, Olivier, additional, Vaclavik, Veronika, additional, Meunier, Isabelle, additional, Drumare, Isabelle, additional, Pelletier, Valérie, additional, Bocquet, Béatrice, additional, Todorova, Margarita G., additional, Le Moing, Anne-Gaëlle, additional, Devos, Aurore, additional, Schorderet, Daniel F., additional, Jobic, Florence, additional, Defoort-Dhellemmes, Sabine, additional, Dollfus, Hélène, additional, Smirnov, Vasily M., additional, and Dhaenens, Claire-Marie, additional

Published
2022
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39. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

Author

Audo, Isabelle, Kohl, Susanne, Leroy, Bart P., Munier, Francis L., Guillonneau, Xavier;, Mohand-Said, Saddek, Bujakowska, Kinga, Nandrot, Emeline F., Lorenz, Birgit, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Bernd, Antje, Antonio, Aline, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Poloschek, Charlotte M., Drumare, Isabelle, Defoort-Dhellemmes, Sabine, Wissinger, Bernd, Leveillard, Thierry, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Berger, Wolfgang, Jacobson, Samuel G., Zrenner, Eberhart, Sahel, Jose-Alain, Bhattacharya, Shomi S., and Zeitz, Christina

Subjects
Gene mutations -- Analysis, Night blindness -- Genetic aspects, Biological sciences
Abstract

Several analyses are conducted to determine the various genes that are mutated in the patients suffering from autosomal-recessive complete congenital stationary night blindness. The results demonstrate that TRPM1 is the most commonly mutated gene.

Published
2009

40. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

Author

Polok, Bozena, Escher, Pascal, Ambresin, Aude, Chourey, Eliane, Bolay, Sylvain, Meunier, Isabelle, Nan, Francis, Hamel, Christian, Munier, Francis L., Thilo, Bernard, Megarbane, Andre, and Schorderet, Daniel F.

Subjects
Single nucleotide polymorphisms -- Usage, Gene mutations -- Analysis, Retinal diseases -- Genetic aspects, Retinal diseases -- Causes of, Haplotypes -- Analysis, Chromosome mapping -- Usage, Biological sciences
Abstract

A genome-wide single-nucleotide polymorphism (SNP) haplotype analysis is conducted to determine the causes of the recessive cone-rod dystrophies, the inherited dystrophies of the retina. The mutations in the ancient conserved domain protein 4 gene (CNNM4) are shown to widely cause the dystrophy with amelogenesis imperfecta.

Published
2009

43. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Author

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, Frederick, Jeanne M., Zhao, Yu, Wang, Changguan, Cameron, D. Joshua, Huttner, Wieland B., Schorderet, Daniel F., Munier, Frances L., Moore, Anthony T., Birch, David G., Baehr, Wolfgang, Hunt, David M., Williams, David S., and Zhang, Kang

Subjects
Gene mutations -- Health aspects, Gene mutations -- Research, Glycoproteins -- Physiological aspects, Glycoproteins -- Genetic aspects, Glycoproteins -- Research, Macular degeneration -- Risk factors, Macular degeneration -- Genetic aspects, Macular degeneration -- Care and treatment, Macular degeneration -- Research
Abstract

Familial macular degeneration is a clinically and genetically heterogeneous group of disorders characterized by progressive central vision loss. Here we show that an R373C missense mutation in the prominin 1 gene (PROM1) causes 3 forms of autosomal-dominant macular degeneration. In transgenic mice expressing R373C mutant human PROM1, both mutant and endogenous PROM1 were found throughout the layers of the photoreceptors, rather than at the base of the photoreceptor outer segments, where PROM1 is normally localized. Moreover, the outer segment disk membranes were greatly overgrown and misoriented, indicating defective disk morphogenesis. Immunoprecipitation studies showed that PROM1 interacted with protocadherin 21 (PCDH21), a photoreceptor-specific cadherin, and with actin filaments, both of which play critical roles in disk membrane morphogenesis. Collectively, our results identify what we believe to be a novel complex involved in photoreceptor disk morphogenesis and indicate a possible role for PROM1 and PCDH21 in macular degeneration., Introduction Retinal photoreceptor cells are highly specialized. One compartment, organized as an outer segment (OS) in vertebrates, contains a stack of over 1,000 disks harboring rhodopsin and the phototransduction machinery. [...]

Published
2008

44. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome

Author

Schorderet, Daniel F., Nichini, Olivia, Boisset, Gaelle, Polok, Bozena, Tiab, Leila, Mayeur, Helene, de la Houssaye, Gauillaume, Abitbol, Marc M., and Munier, Francis L.

Subjects
Eye diseases -- Genetic aspects, Gene expression -- Analysis, Gene mutations -- Analysis, Human genetics -- Research, Biological sciences
Abstract

The article discusses the causes and effects of the oculo-auricular syndrome, the developmental effect that affects the eye and external ear. The results show that the disorder is usually caused by the mutations in the homeobox gene NKX5-3 in humans.

Published
2008

45. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Author

Bedoni, Nicola, Haer-Wigman, Lonneke, Vaclavik, Veronika, Tran, Viet H., Farinelli, Pietro, Balzano, Sara, Royer-Bertrand, Beryl, El-Asrag, Mohammed E., Bonny, Olivier, Ikonomidis, Christos, Litzistorf, Yan, Nikopoulos, Konstantinos, Yioti, Georgia G., Stefaniotou, Maria I., McKibbin, Martin, Booth, Adam P., Ellingford, Jamie M., Black, Graeme C., Toomes, Carmel, Inglehearn, Chris F., Hoyng, Carel B., Bax, Nathalie, Klaver, Caroline C.W., Thiadens, Alberta A., Murisier, Fabien, Schorderet, Daniel F., Ali, Manir, Cremers, Frans P.M., Andréasson, Sten, Munier, Francis L., Rivolta, Carlo, Bedoni, Nicola, Haer-Wigman, Lonneke, Vaclavik, Veronika, Tran, Viet H., Farinelli, Pietro, Balzano, Sara, Royer-Bertrand, Beryl, El-Asrag, Mohammed E., Bonny, Olivier, Ikonomidis, Christos, Litzistorf, Yan, Nikopoulos, Konstantinos, Yioti, Georgia G., Stefaniotou, Maria I., McKibbin, Martin, Booth, Adam P., Ellingford, Jamie M., Black, Graeme C., Toomes, Carmel, Inglehearn, Chris F., Hoyng, Carel B., Bax, Nathalie, Klaver, Caroline C.W., Thiadens, Alberta A., Murisier, Fabien, Schorderet, Daniel F., Ali, Manir, Cremers, Frans P.M., Andréasson, Sten, Munier, Francis L., and Rivolta, Carlo

Abstract

Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polyglutamylase-encoding gene TTLL5, in eight patients from six families. The two male patients carrying truncating TTLL5 variants also displayed a substantial reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. Defects in this polyglutamylase in humans have recently been associated with cone photoreceptor dystrophy, while mouse models carrying truncating mutations in the same gene also display reduced fertility in male animals. We examined the expression levels of TTLL5 in various human tissues and determined that this gene has multiple viable isoforms, being highly expressed in testis and retina. In addition, antibodies against TTLL5 stained the basal body of photoreceptor cells in rat and the centrosome of the spermatozoon flagellum in humans, suggesting a common mechanism of action in these two cell types. Taken together, our data indicate that mutations in TTLL5 delineate a novel, allele-specific syndrome causing defects in two as yet pathogenically unrelated functions, reproduction and vision.

Published
2021

46. Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147

Author

Stäubli, Andrina, Capatina, Nadejda, Fuhrer, Yvonne, Munier, Francis L., Labs, Stephan, Schorderet, Daniel F., Tiwari, Amit, Verrey, Francois, Heon, Elise, Cheng, Ching-Yu, Wong, Tien-Yin, Berger, Wolfgang, Camargo, Simone M R., Kloeckener-Gruissem, Barbara, Stäubli, Andrina, Capatina, Nadejda, Fuhrer, Yvonne, Munier, Francis L., Labs, Stephan, Schorderet, Daniel F., Tiwari, Amit, Verrey, Francois, Heon, Elise, Cheng, Ching-Yu, Wong, Tien-Yin, Berger, Wolfgang, Camargo, Simone M R., and Kloeckener-Gruissem, Barbara

Abstract

Membrane transporters influence biological functions in the ocular lens. Here, we investigate the monocarboxylate transporter 12 (MCT12), also called creatine transporter 2 (CRT2), which is found in the ocular lens and is involved in cataract. As the age-related form affects about half of the population world-wide, understanding relevant pathomechanisms is a prerequisite for exploring non-invasive treatments. We screened the coding exons of the gene SLC16A12 in 877 patients from five cohorts, including Caucasian and Asian ethnicities. A previously identified risk factor, SNP rs3740030, displayed different frequencies in the Asian cohorts but risk could not be established. In 15 patients 13 very rare heterozygous nucleotide substitutions were identified, of which eight led to non-synonymous and four to synonymous amino acid exchanges and one mapped to the canonical splice site in intron 3. Their impact on creatine transport was tested in Xenopus laevis oocytes and human HEK293T cells. Four variants (p.Ser158Pro, p.Gly205Val, p.Pro395Gln and p.Ser453Arg) displayed severe reduction in both model systems, indicating conserved function. Two of these, p.Gly205Val, and p.Ser453Arg, did not localize to the oocyte membrane, suggesting possible impacts on protein interactions for transporter processing. In support, exogenously supplied excess of MCT12's chaperone CD147 in HEK293T cells led to a partial recovery of the defective uptake activity from p.Gly205Val and also from mutant p.Pro395Gln, which did localize to the membrane. Our findings provide first insight in the molecular requirements of creatine transporter, with particular emphasis on rescuing effects by its chaperone CD147, which can provide useful pharmacological information for substrate delivery.

Published
2021

50. Mutations in CABP4, the gene encoding the [Ca.sup.2}-binding protein 4, cause autosomal recessive night blindness

Author

Zeitz, Christina, Kloeckener-Gruissem, Barbara, Forster, Ursula, Kohl, Susanne, Magyar, Istvan, Wissinger, Bernd, Matyas, Gabor, Borruat, Francois-Xavier, Schorderet, Daniel F., Zrenner, Eberhart, Munier, Francis L., and Berger, Wolfgang

Subjects
Binding proteins -- Genetic aspects, Binding proteins -- Research, Genetic transcription -- Research, Night blindness -- Causes of, Gene mutations -- Research, Biological sciences
Abstract

A candidate-gene approach is used to identify mutations that cause congenital stationary night blindness (CSNB). Studies on two families with CSNB reveal that mutations in CABP4, the gene encoding the calcium-binding protein 4, reduce the transcript levels to 30% to 40% of those in controls, which suggests that the reduced amount of CABP4 is the reason for the signaling defect in these patients.

Published
2006

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