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1دورية أكاديمية
المصدر: Cells, Vol 11, Iss 8, p 1373 (2022)
مصطلحات موضوعية: retina, zebrafish, cryoinjury, regeneration, Cytology, QH573-671
الوصف: Zebrafish show an extraordinary potential for regeneration in several organs from fins to central nervous system. Most impressively, the outcome of an injury results in a near perfect regeneration and a full functional recovery. Indeed, among the various injury paradigms previously tested in the field of zebrafish retina regeneration, a perfect layered structure is observed after one month of recovery in most of the reported cases. In this study, we applied cryoinjury to the zebrafish eye. We show that retina exposed to this treatment for one second undergoes an acute damage affecting all retinal cell types, followed by a phase of limited tissue remodeling and regrowth. Surprisingly, zebrafish developed a persistent retinal dysplasia observable through 300 days post-injury. There is no indication of fibrosis during the regeneration period, contrary to the regeneration process after cryoinjury to the zebrafish cardiac ventricle. RNA sequencing analysis of injured retinas at different time points has uncovered enriched processes and a number of potential candidate genes. By means of this simple, time and cost-effective technique, we propose a zebrafish injury model that displays a unique inability to completely recover following focal retinal damage; an outcome that is unreported to our knowledge. Furthermore, RNA sequencing proved to be useful in identifying pathways, which may play a crucial role not only in the regeneration of the retina, but in the first initial step of regeneration, degeneration. We propose that this model may prove useful in comparative and translational studies to examine critical pathways for successful regeneration.
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov, Claire-Marie Dhaenens
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 8, p 4294 (2022)
مصطلحات موضوعية: MFSD8 gene, isolated macular dystrophy, neuronal ceroid lipofuscinosis, deep intronic variant, transcript analysis, Biology (General), QH301-705.5, Chemistry, QD1-999
الوصف: Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel. Among them were one deep intronic variant c.998+1669A>G, one large deletion encompassing exon 9 and 10, and a silent change c.750A>G. Transcript analysis performed on patients’ lymphoblastoid cell lines revealed the creation of a donor splice site by c.998+1669A>G, resulting in a 140 bp pseudoexon insertion in intron 10. Variant c.750A>G produced exon 8 skipping. In silico and in cellulo studies of these variants allowed us to assign the pathogenic effect, and showed that the combination of at least one severe variant with a moderate one leads to isolated retinal dystrophy, whereas the combination in trans of two severe variants is responsible for early onset severe retinal dystrophy in the context of late-infantile neuronal ceroid lipofuscinosis.
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/23/8/4294Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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3دورية أكاديمية
المصدر: Cells, Vol 11, Iss 7, p 1088 (2022)
الوصف: H6 family homeobox 1 (HMX1) regulates multiple aspects of craniofacial development, and mutations in HMX1 are linked to an ocular defect termed oculoauricular syndrome of Schorderet–Munier–Franceschetti (OAS) (MIM #612109). Recently, additional altered orofacial features have been reported, including short mandibular rami, asymmetry of the jaws, and altered premaxilla. We found that in two mutant zebrafish lines termed hmx1mut10 and hmx1mut150, precocious mineralization of the proximal vertebrae occurred. Zebrafish hmx1mut10 and hmx1mut150 report mutations in the SD1 and HD domains, which are essential for dimerization and activity of hmx1. In hmx1mut10, the bone morphogenetic protein (BMP) antagonists chordin and noggin1 were downregulated, while bmp2b and bmp4 were highly expressed and specifically localized to the dorsal region prior to the initiation of the osteogenic process. The osteogenic promoters runx2b and spp1 were also upregulated. Supplementation with DMH1—an inhibitor of the BMP signaling pathway—at the specific stage in which bmp2b and bmp4 are highly expressed resulted in reduced vertebral mineralization, resembling the wildtype mineralization progress of the axial skeleton. These results point to a possible role of hmx1 as part of a complex gene network that inhibits bmp2b and bmp4 in the dorsal region, thus regulating early axial skeleton development.
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Imen Habibi, Yosra Falfoul, Margarita G. Todorova, Stefan Wyrsch, Veronika Vaclavik, Maria Helfenstein, Ahmed Turki, Khaled El Matri, Leila El Matri, Daniel F. Schorderet
المصدر: Genes, Vol 11, Iss 5, p 503 (2020)
الوصف: The authors wish to make a correction to the published version of their paper [...]
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Imen Habibi, Yosra Falfoul, Margarita G. Todorova, Stefan Wyrsch, Veronika Vaclavik, Maria Helfenstein, Ahmed Turki, Khaled El Matri, Leila El Matri, Daniel F. Schorderet
المصدر: Genes, Vol 10, Iss 12, p 953 (2019)
مصطلحات موضوعية: best1, bestrophinopathy, arb, Genetics, QH426-470
الوصف: Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families and searched for a genotype-phenotype correlation. All patients were referred due to reduced best-corrected visual acuity (BCVA), ranging from 0.1/10 to 3/10. They all showed vitelliform lesions located at the macula, sometimes extending into the midperiphery, along the vessels and the optic disc. Onset of the disease varied from the age of 3 to 25 years. Electrooculogram (EOG) revealed reduction in the EOG light rise in all patients. Molecular analysis revealed previously reported mutations p.(E35K);(E35K), p.(L31M);(L31M), p.(R141H);(A195V), p.(R202W);(R202W), and p.(Q220*);(Q220*) in five families. One family showed a novel mutation: p.(E167G);(E167G). All mutations were heterozygous in the parents. In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal recessive Bestrophinopathy (ARB), although rare, can be recognized by its phenotype and should be validated by molecular analysis. Genotype-phenotype correlations are difficult to establish and will require the analysis of additional cases.
وصف الملف: electronic resource
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6
المؤلفون: Daniel F. Schorderet, Maria Helfenstein, Imen Habibi, Veronika Vaclavik, Ahmed Turki, Leila El Matri, Khaled El Matri, Stefan Wyrsch, Yosra Falfoul, Margarita G. Todorova
المصدر: Genes, Vol 11, Iss 503, p 503 (2020)
مصطلحات موضوعية: Genetics, lcsh:Genetics, n/a, lcsh:QH426-470, Biology, Gene, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Autosomal recessive bestrophinopathy
الوصف: The authors wish to make a correction to the published version of their paper [...]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fcd51551868300b9dd317b64e3f265aTest
https://www.mdpi.com/2073-4425/11/5/503Test -
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المؤلفون: Ahmed Turki, Yosra Falfoul, Stefan Wyrsch, Maria Helfenstein, Margarita G. Todorova, Daniel F. Schorderet, Imen Habibi, Veronika Vaclavik, Khaled El Matri, Leila El Matri
المصدر: Genes, Vol 10, Iss 12, p 953 (2019)
Genes
Volume 10
Issue 12مصطلحات موضوعية: 0301 basic medicine, Male, Visual acuity, genetic structures, Eye, EOG light rise, 0302 clinical medicine, BEST1, Medicine, Bestrophins, Child, Genetics (clinical), Bestrophinopathy, Eye Diseases, Hereditary, Phenotype, Molecular analysis, Pedigree, best1, medicine.anatomical_structure, Female, medicine.symptom, Autosomal recessive bestrophinopathy, Optic disc, Adult, medicine.medical_specialty, Adolescent, lcsh:QH426-470, phenotype, Retinitis, arb, Article, 03 medical and health sciences, Young Adult, bestrophinopathy, Retinal Diseases, vitelliform macular dystrophy, Ophthalmology, Genetics, Electroretinography, Humans, Genetic Association Studies, business.industry, Correction, mutations, medicine.disease, eye diseases, Electrooculography, lcsh:Genetics, best1 gene, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, sense organs, business
الوصف: Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families and searched for a genotype-phenotype correlation. All patients were referred due to reduced best-corrected visual acuity (BCVA), ranging from 0.1/10 to 3/10. They all showed vitelliform lesions located at the macula, sometimes extending into the midperiphery, along the vessels and the optic disc. Onset of the disease varied from the age of 3 to 25 years. Electrooculogram (EOG) revealed reduction in the EOG light rise in all patients. Molecular analysis revealed previously reported mutations p.(E35K)
(E35K), p.(L31M)
(L31M), p.(R141H)
(A195V), p.(R202W)
(R202W), and p.(Q220*)
(Q220*) in five families. One family showed a novel mutation: p.(E167G)
(E167G). All mutations were heterozygous in the parents. In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal recessive Bestrophinopathy (ARB), although rare, can be recognized by its phenotype and should be validated by molecular analysis. Genotype-phenotype correlations are difficult to establish and will require the analysis of additional cases.وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e27f1955e3efda9a3059903c2e30ddaTest
https://www.mdpi.com/2073-4425/10/12/953Test
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