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  • 1
    Keywords: Medicine ; Neurosciences ; Ophthalmology ; Biomedicine ; Neurosciences ; Ophthalmology ; Springer eBooks
    Abstract: The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70.℗ The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them.℗ Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the ́€œbest́€ and ́€œmost important́€ meetings in the field. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy. While advances in these areas of retinal degenerations will be described, there will be many new topics that either were in their infancy or did not exist at the time of the last RD Symposium, RD2014.℗ These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general.℗ It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those will be reported at the RD2018 meeting and included in the proposed volume.℗ We anticipate the excitement of those working in the field and those afflicted with retinal degenerations will be reflected in the volume
    Pages: XLII, 669 p. 142 illus., 93 illus. in color. : online resource.
    ISBN: 9783319754024
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  • 2
    Keywords: Medicine ; Gene Therapy ; Immunology ; Geriatrics ; Ophthalmology ; Biomedicine ; Immunology ; Ophthalmology ; Geriatrics/Gerontology ; Gene Therapy ; Springer eBooks
    Pages: : digital
    Edition: 2012.
    ISBN: 9781461406310
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  • 3
    Keywords: Immunology ; Ophthalmology ; Neurosciences ; Immunology ; Ophthalmology ; Neurosciences ; Springer eBooks
    Abstract: This book contains the proceedings of the XVIII International Symposium on Retinal Degeneration (RD2018). A majority of those who spoke and presented posters at the meeting contributed to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium focused on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the “best” and “most important” meetings in the field. The volume presents representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy. While advances in these areas of retinal degenerations were described, there will be many new topics that either are in their infancy or did not exist at the time of the last RD Symposium, RD2016. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those were reported at the RD2016 meeting and included in the current volume. We anticipate the excitement of those working in the field and those afflicted with retinal degenerations is reflected in the volume
    Pages: XVI, 596 p. 132 illus., 86 illus. in color. : online resource.
    Edition: 1st ed. 2019.
    ISBN: 9783030273781
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  • 4
    Keywords: Medicine ; Human Genetics ; Gene Therapy ; Neurosciences ; Geriatrics ; Ophthalmology ; Medicine & Public Health ; Ophthalmology ; Neurosciences ; Geriatrics/Gerontology ; Human Genetics ; Gene Therapy ; Neurosciences ; Springer eBooks
    Abstract: This book will contain the proceedings of the XV International Symposium on Retinal Degeneration (RD2012).℗ A majority of those who will speak and present posters at the meeting will contribute to this volume.℗ The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70.℗ The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them.℗ Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the ́€œbest́€ and ́€œmost important́€ meetings in the field. ℗ The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy. ℗ While advances in these areas of retinal degenerations will be described, there will be many new topics that either were in their infancy or did not exist at the time of the last RD Symposium, RD2010. ℗ These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. ℗ The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general.℗ It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS.℗ Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those will be reported at the RD2010 meeting and included in the proposed volume.℗ We anticipate the excitement of those working in the field and those afflicted with retinal degenerations will be reflected in the volume
    Pages: LXI, 862 p. 188 illus., 187 illus. in color. : online resource.
    ISBN: 9781461432098
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  • 5
    Keywords: Medicine ; Immunology ; Neurosciences ; Ophthalmology ; Medicine & Public Health ; Ophthalmology ; Neurosciences ; Immunology ; Springer eBooks
    Description / Table of Contents: Part I Age-Related Macular Degeneration (AMD) -- Apolipoprotein E Isoforms and AMD -- Role of Chemokines in Shaping Macrophage Activity in AMD -- Biology of p62/sequestosome-1 in Age-Related Macular Degeneration (AMD) -- Gene Structure of the 10q26 locus: A Clue to Cracking the ARMS2/HTRA1 Riddle? -- Conditional Induction of Oxidative Stress in RPE: A Mouse Model of Progressive Retinal Degeneration -- Therapeutic Approaches to Histone Reprogramming in Retinal Degeneration -- A Brief Discussion on Lipid Activated Nuclear Receptors and Their Potential Role in Regulating Microglia in Age-Related Macular Degeneration (AMD) -- Extracellular Matrix Alterations and Deposit Formation in AMD -- The NLRP3 Inflammasome and its Role in Age-related Macular Degeneration -- Oxidative Stress and the Nrf2 Anti-Oxidant Transcription Factor in Age-Related Macular Degeneration -- Aging Changes in Retinal Microglia and their Relevance to Age-related Retinal Disease -- VEGF-A and the NLRP3 Inflammasome in Age-Related Macular Degeneration -- Interrelation Between Oxidative Stress and Complement Activation in Models of Age-Related Macular Degeneration -- Gene-diet Interactions in Age-Related Macular Degeneration -- Challenges in the Development of Therapy for Dry Age-Related Macular Degeneration -- Nanoceria: A Potential Therapeutic for Dry AMD -- Îø-amyloidopathy in the Pathogenesis of Age-Related Macular Degeneration in Correlation with Neurodegenerative Diseases -- Part II Macular Dystrophies/Inherited Macular Degeneration -- Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans -- Mouse Models of Stargardt 3 Dominant Macular Degeneration -- Current Progress in Deciphering Importance of VLC-PUFA in the Retina -- Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-related Macular Degeneration and Potential Therapies -- Part III Inherited Retinal Degenerations -- Hsp90 as a Potential Therapeutic Target in Retinal Disease -- Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes -- A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects -- Ablation of Chop Transiently Enhances Photoreceptor Survival But Does Not Prevent Retinal Degeneration in Transgenic Mice Expressing Human P23H Rhodopsin -- Identification of a Novel Gene on 10q22 Causing Autosomal Dominant Retinitis Pigmentosa (adRP) -- FAM161A and TTC8 Are Differentially Expressed in Non-allelelic Early Onset Retinal Degeneration -- Mutations in the Dynein1 Complex are Permissible for Basal Body Migration in Photoreceptors but Alter Rab6 Localization -- RDS Functional Domains and Dysfunction in Disease -- TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR) -- Understanding Cone Photoreceptor Cell Death in Achromatopsia -- Geranylgeranylacetone Suppresses N-methyl-N-nitrosourea-induced Photoreceptor Cell Loss in Mice -- My Retina Trackeŕ„Ø: An On-line International Registry for People Affected with Inherited Orphan Retinal Degenerative Diseases and their Genetic Relatives ́€“ A New Resource -- A Mini-Review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1) -- A Comprehensive Review of Mutations in the MERTK Proto-oncogene -- Part IV In Vivo Imaging and Other Diagnostic Advances -- New Developments in Murine Imaging for Assessing Photoreceptor Degeneration In Vivo -- Reliability and repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia -- Quantitative Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is Not Increased in Non-Lesion Areas of Retina -- Interpretation of Flood-Illuminated Adaptive Optics Images in Subjects with Retinitis Pigmentosa -- Intra-familial Similarity of Wide-Field Fundus Autofluorescence in Inherited Retinal Dystrophy -- Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy.-℗ The Development of a Cat Model of Retinal Detachment and Re-Attachment -- Part V Mechanisms of Degeneration -- The Role of X-Chromosome Inactivation in Retinal Development and Disease -- A Non-canonical Role for Îø-Secretase in the Retina -- The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors -- The Rate of Vitamin A Dimerization in Lipofuscinogenesis, Fundus Autofluorescence, Retinal Senescence and Degeneration -- Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? -- Class I Phosphoinositide 3-Kinase Exerts a Differential Role on Cell Survival and Cell Trafficking in Retina -- Cell Cycle Proteins and Retinal Degeneration: Evidences of New Potential Therapeutic Targets -- Neuronal Nitric Oxide Synthase as a Trigger of the N-methyl-N-nitrosourea-induced Photoreceptor Cell Death -- Molecular Principles for℗ Decoding Homeostasis Disruptions in the Retinal Pigment Epithelium:℗ Significance℗ of Lipid Mediators to Retinal Degenerative Diseases -- Aging and Vision -- Part VI Neuroprotection, Small Molecules & Related Therapeutic Approaches -- The Potential Use of PGC-1Îł and PGC-1Îø to Protect the Retina by Stimulating Mitochondrial Repair -- Retinal Caveolin-1 Modulates Neuroprotective Signaling -- Photoreceptor Neuroprotection: Regulation of Akt activation through Serine/Threonine Phosphatases, PHLPP and PHLPPL -- The Role of AMPK pathway in Neuroprotection -- Tauroursodeoxycholic Acid Protects Retinal Function and Structure in rd1 -- Near-Infrared Photobiomodulation in Retinal Injury and Disease -- Exercise and Cyclic Light Preconditioning Protect Against Light-Induced Retinal Degeneration and Evoke Similar Gene Expression Patterns -- Small Molecules that Protect Mitochondrial Function from Metabolic Stress Decelerate Loss of Photoreceptor Cells in Murine Retinal Degeneration Models -- Histone Deacetylase: Therapeutic Targets in Retinal Degeneration -- Therapeutic Approach of Nanotechnology for Oxidative Stress Induced Ocular Neurodegenerative Diseases -- Transscleral Controlled Delivery of Geranylgeranylaceton Using a Polymeric Device Protects Rat Retina Against Light Injury -- Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa -- Part VII Gene Therapy & Antisense.-℗ Gene Therapy for MERTK-Associated Retinal Degenerations -- Tamoxifen-containing Eye Drops Successfully Trigger Cre-mediated Recombination in the Entire Eye -- Distinct Expression Patterns of AAV8 Vectors with Broadly Active Promoters from Subretinal Injections of Neonatal Mouse Eyes at Two Different Ages -- ℗ ℗ ℗ ℗ ℗ ℗ ℗ ℗ Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin -- Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies -- Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins -- Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes -- Part VIII Stem Cells & Cell-based Therapies -- Regenerative Medicine: Solution in Sight -- Personalized Medicine: Cell and Gene Therapy Based on Patient-Specific iPSC-derived Retinal Pigment Epithelium Cells -- Human Retinal Pigment Epithelium Stem Cell (RPESC) -- Embryonic Stem Cel倐Derived Microvesicles: Could They Be Used for Retinal Regeneration? -- Intravitreal Implantation of Genetically Modified Autologous Bone Marrow-Derived Stem Cells for Treating Retinal Disorders.-℗ Gliosis Can Impede Integration Following Photoreceptor Transplantation into the Diseased Retina -- Interkinetic Nuclear Migration in the Regenerating Retina -- Part IX Photoreceptors & Inner Retina -- Use of a Machine Learning-Based High Content Analysis Approach to Identify Photoreceptor Neurite Promoting Molecules -- A Novel Approach to Identify Photoreceptor Compartment-Specific Tulp1 Binding Partners -- Thyroid Hormone Signaling and Cone Photoreceptor Viability -- In-Depth Functional Diagnostics of Mouse Models by Single-Flash and Flicker Electroretinograms without Adapting Background Illumination -- The Role of Intraflagellar Transport in the Photoreceptor Sensory Cilium -- Regulation of Retinal Development Via the Epigenetic Modification of Histone -- The Potential Role of Flavins and Retbindin in Retinal Function and Homeostasis -- Identification of Tyrosine O Sulfated Proteins in Cow Retina and the 661W Cell Line -- The Function of Arf-like Proteins ARL2 and ARL3 in Photoreceptors.-Characterization of Antibodies to Identify Cellular Expression of Dopamine -- Receptor 4 -- A Possible Role of Neuroglobin in the Retina After Optic Nerve Injury: A Comparative Study of Zebrafish and Mouse Retina -- JNK Inhibition Reduced Retinal Ganglion Cell Death After Ischemia/Reperfusion In Vivo and After Hypoxia In Vitro -- Cell Fate of M©ơller Cells During Photoreceptor Regeneration in an MNU-induced Retinal Degeneration Model of Zebrafish -- Polymodal Sensory Integration in Retinal Ganglion Cells -
    Abstract: Contains the proceedings of the XVI International Symposium on Retinal Degeneration (RD2014), held July 13-18, 2014 at the Asilomar Conference Center in Pacific Grove, California. A majority of those who spoke and presented posters at the meeting contributed to this volume. The Symposium addressed the blinding diseases of inherited retinal degenerations, which have no effective treatments, and age-related macular degeneration, which has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 75. The RD2014 Symposium focused on the exciting new developments aimed at understanding these diseases and providing therapies for them. The volume presents representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy; and several sight restoration approaches, including optogenetics. While advances in these areas of retinal degenerations are included, several new topics either were in their infancy or did not exist at the time of the last RD Symposium, RD2012. These include many new developments in sight restoration using optogenetics, retinal or RPE cell transplantation, stem cell approaches and visual prosthetic devices. In addition, major advances are presented in other basic mechanisms in age-related macular degeneration, several new aspects of gene and antioxidant therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those are reported at the RD2014 meeting and included in this volume
    Pages: LV, 824 p. 62 illus. in color. : online resource.
    Edition: 1st ed. 2016.
    ISBN: 9783319171210
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  • 6
    ISSN: 1617-4623
    Keywords: Schizosaccharomyces pombe ; Gene disruption ; Gene replacement ; ura4 sequence ; ura4 deletion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary A system is described for gene disruption and replacement in Schizosaccharomyces pombe based on the homologous selectable marker, ura4, the structural gene for orotidine-5′-phosphate decarboxylase. The presence of a single copy of the wild-type gene can rescue a ura4 auxotrophic mutant. Furthermore, ura4 −cells can be selected for in the presence of 5-fluoroorotic acid (5-FOA). This allows a convenient means of selecting for both forward and backward mutations. The sequence of a 1.8 kb HindIII fragment which contains the functional gene is reported. It encodes a single open reading frame of 264 amino acids which shows considerable conservation with the orotidine-5′-phosphate (OMP) decarboxylases from other organisms. The ura4 transcript is approximately 850 nucleotides long. It begins 51 bp upstream of the protein coding sequence and is unusual in that transcription termination occurs at or very close to the translational stop codon. To facilitate the use of ura4 in gene disruption experiments we have also constructed a novel strain of S. pombe called ura4-D18, in which the 1.8 kbHindIII fragment has been deleted from the chromosome. Using a combination of this strain and vectors containing ura4 as a selectable marker, we present a general method for targeting recombination events to the chromosomal locus under investigation.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1617-4623
    Keywords: Schizosaccharomyces pombe ; Integrative transformation ; Homologous integration ; Illegitimate recombination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Three different Schizosaccharomyces pombe strains have been transformed with a circular or linearized non-ars plasmid carrying the ura4 + gene as a selectable marker. The first strain shows full homology between the genomic ura4-294 gene (point mutation) and the marker gene on the plasmid. The second strain carries a 600 bp deletion (ura4-D6) that decreases homology between plasmid and chromosome. No homology remains in the third strain which has a complete deletion of the ura4 gene on the chromosome (ura4-D18). When sequence homology exists between transforming DNA and the chromosomal ura4 region, gene conversion is strongly preferred over integration of the circular plasmid. Reduction of the length of homology leads to a decrease of transformation frequencies, and homology dependent as well as a minority of homology independent integrations are observed. In the complete absence of homology two rate types of transformants are encountered: either the circular plasmid replicates autonomously, although it is devoid of an ars sequence, or alternatively the plasmid integrates into the genome at various positions. Transformation with plasmid cut within the coding region of ura4 can lead to tandemly arranged multiple integrations, when no homology exists between the free ends and the chromosome. The integrations occur at the ura4 locus, when homology is retained between plasmid and chromosome, and at various sites in the genome of the strain with a complete deletion of the ura4 gene. The results suggest that homology dependent events (conversion, integration) are strongly preferred in transformation of S. pombe with non-ars plasmids. In addition low frequency integration by illegitimate recombination is observed. Linearized plasmid can be ligated in vivo to form monomers or multimers in the absence of homology between the free plasmid ends and the chromosomal genome.
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  • 8
    ISSN: 1432-0983
    Keywords: Synchronized meiosis ; Schizosaccharomyces pombe ; Meiotic recombination ; pat1-114
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The mutation pat1-114 has been used to synchronize meiosis in the fission yeast Schizosaccharomyces pombe. We have investigated several aspects of such synchronized meiotic cultures. In both pat1-114 and pat1 + diploids, meiotic landmark events are initiated at the same time after meiosis induction, but synchrony is much more pronounced in the pat1-114-driven meiosis. Commitment to recombination and to meiosis have been timed at 2 h after meiotic induction. Due to a seven-fold reduction of intragenic recombination frequency in the ade6 region of pat1-114 diploids, physical analysis of recombination has not been possible. We have distinguished three factors that influence intragenic recombination frequencies: temperature, azygotic versus zygotic meiosis, and the nature of the pat1 allele. Differences and similarities in the timing of meiotic landmarks in S. cerevisiae and S. pombe are discussed.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Excessive phototransduction signaling is thought to be involved in light-induced and inherited retinal degeneration. Using knockout mice with defects in rhodopsin shut-off and transducin signaling, we show that two different pathways of photoreceptor-cell apoptosis are induced by light. Bright ...
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  • 10
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Leber congenital amaurosis (LCA) is the most serious form of the autosomal recessive childhood-onset retinal dystrophies. Mutations in the gene encoding RPE65, a protein vital for regeneration of the visual pigment rhodopsin in the retinal pigment epithelium, account for 10–15% of LCA cases. ...
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