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  • 1
    Keywords: Medicine ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: Identification and Analysis of Genes Associated with Inherited Retinal Diseases -- eQTL Analysis in Retinal Research -- Testing for known Retinal Degeneration Mutants in Mouse Strains -- CRISPR/Cas9 Gene Editing In Vitro and in Retinal Cells In Vivo -- Monitoring Surface Reactions by Combined Western Blot-ELISA Analysis -- Generation of Functional Retinal Pigment Epithelium from Human Induced Pluripotent Stem Cells -- Advanced Analysis of Photoreceptor Outer Segment Phagocytosis by RPE Cells in Culture -- Porcine RPE/Choroidal Explant Cultures -- The Mouse Retinal Organoid Trisection Recipe: Efficient Generation of 3D Retinal Tissue from Mouse Embryonic Stem Cells -- Cell Death Analysis in Retinal Cultures -- Fate Mapping In Vivo to Distinguish Bona Fide Microglia Versus Recruited Monocyte-derived Macrophages in Retinal Disease -- Light Damage Models of Retinal Degeneration -- Induction and Readout of Oxygen-Iinduced Retinopathy -- Generation and Analysis of Xenopus laevis Models of Retinal Degeneration using CRISPR/Cas9 -- Gene Knockdown in Zebrafish (Danio rerio) as a Tool to Model Photoreceptor Diseases -- Drosophila melanogaster - A Valuable Genetic Model Organism to Elucidate the Biology of Retinitis Pigmentosa -- Retinal Fundus Imaging in Mouse Models of Retinal Diseases -- Phenotyping of Mouse Models with OCT -- Cell-specific Markers for the Identification of Retinal Cells and Subcellular Organelles by Immunofluorescence Microscopy -- Immuno-TEM/STEM in Retinal Research -- Noninvasive Two-photon Microscopy Imaging of Mouse Retina and Retinal Pigment Epithelium -- Cell-based Therapy for Retinal Disease: The New Frontier -- In Vitro Evaluation of AAV Vectors for Retinal Gene Therapy -- Nanoparticles Targeting Retinal and Choroidal Capillaries In Vivo -- Optimized Subretinal Injection Technique for Gene Therapy Approaches
    Abstract: This volume provides key updates on several of the first edition chapters and also includes new novel techniques, addressing the most recent technological developments and their applications in retinal research. Chapters guide readers through gene identification approaches, detailed protocols to generate functional retinal pigment epithelium cells, mouse retina and other animal models, fundus imaging and angiography, and cell-based treatment approaches. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Retinal Degeneration: Methods and Protocols, Second Edition aims to ensure successful scientific work in the further study of this vital field
    Pages: XIV, 417 p. 108 illus., 56 illus. in color. : online resource.
    Edition: 2nd ed. 2019.
    ISBN: 9781493986699
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Best's vitelliform macular degeneration has been genetically linked to chromosome 11. Subsequently, the disease locus has been refined to an interval between D11S903 and PYGM and, more recently, between D11S986 and D11S480. The gene encoding ROM1, a photoreceptor-specific membrane protein, has been independently mapped within the Best's disease region and has thus become a strong candidate for the Best's disease gene. In this study, we have mapped ROM1 relative to Best's disease and the loci D11S986, UGB (uteroglobin), and PYGM (human muscle glycogen phosphorylase) in recombinant Best's disease chromosomes. We demonstrate that UGB is localized proximal to ROM1 and that both UGB and ROM1 recombine with the disease phenotype. Thus, this analysis excluded ROM1 as the Best's disease gene.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Human claudin-1 is an integral protein component of tight junctions, a structure controlling cell-to-cell adhesion and, consequently, regulating paracellular and transcellular transport of solutes across human epithelia and endothelia. Recently, a claudin-1 (CLDN1) cDNA has been isolated from human mammary epithelial cells (HMECs). CLDN1 expression in HMECs, in contrast to low or undetectable levels of expression in a number of breast tumors and breast cancer cell lines, points to CLDN1 as a possible tumor-suppressor gene. In order to evaluate the CLDN-1 gene in sporadic and hereditary breast cancer, we have characterized its genomic organization and have screened the four coding exons for somatic mutations in 96 sporadic breast carcinomas and for germline mutations in 93 breast cancer patients with a strong family history of breast cancer. In addition, we have compared the 5'-upstream sequences of the human and murine CLDN1 genes to identify putative promoter sequences and have examined both the promoter and coding regions of the human gene in the breast cancer cell lines showing decreased CLDN1 expression. In the sporadic tumors and hereditary breast cancer patients, we have found no evidence to support the involvement of aberrant CLDN1 in breast tumorigenesis. Likewise, in the breast cancer cell lines, no genetic alterations in the promoter or coding sequences have been identified that would explain the loss of CLDN1 expression. Other regulatory or epigenetic factors may be involved in the down-regulation of this gene during breast cancer development.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1573-6849
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1433-0423
    Keywords: Key words Macular dystrophy • Hypotrichosis capitis • Ectodermal dysplasia • Fundus perimetry ; Schlüsselwörter Makuladystrophie • Hypotrichosis capitis • Ektodermale Dysplasie • Fundusperimetrie
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Fragestellung: Die Pathogenese von erblichen Makulaerkrankungen ist weitgehend ungeklärt. Das Zusammentreffen von Augenbefunden mit anderen definierten Symptomen kann eine genetische Determination vereinfachen. Ziel dieser Arbeit war die Vorstellung von 2 Schwestern einer Familie konsanguiner Eltern mit der Befundkombination aus einer Hypotrichose des Kopfhaars im Sinn einer ektodermalen Dysplasie und einer Makuladystrophie. Diese Fälle werden im Kontext mit den Literaturberichten dargestellt. Patienten und Methode: Zwei 13- und 17 jährige Schwestern stellten sich mit beidseitig herabgesetzter Sehschärfe bei jeweils symmetrisch ausgeprägten zentralen Depigmentierungen bzw. chorioatrophischen Narben im Sinn einer Makuladystrophie in Kombination mit einer Hypotrichose des Kopfhaars in unserer Klinik vor. Wir führten fundusperimetrische Untersuchungen sowie dermatologischerseits histologische Untersuchungen der Haare durch. Ergebnisse: Bei der 13 jährigen Patientin bestanden bei ringförmigen Depigmentierungen beidseits relative Zentralskotome für die Marke I/4 in der Fundusperimetrie (Visus 0,125 und 0,4). Die 17 jährige Schwester zeigte beidseits zentrale, chorioatrophische Narben, denen absolute Zentralskotome mit instabiler, in die obere Netzhauthemisphäre verlagerter Fixation entsprachen (Visus 0,16 und 0,2). Schlußfolgerung:Über eine Assoziation von Makuladystrophie und Hypotrichose gibt es bisher wenige Beschreibungen, von denen nur das fundoskopische Bild der von Ludvig 1963 beschriebenen Familie dem Befund unserer Patientinnen vergleichbar ist. Das kombinierte Auftreten von Hypotrichose und Makuladystrophie könnte eine genetische Analyse erleichtern. Eine molekulargenetische Untersuchung unserer Patientinnen im TIMP3-Gen, das für die Sorsby-Fundusdystrophie verantwortlich zeichnet, ergab keine krankheitsassoziierten Veränderungen.
    Notes: Summary Background: Our knowledge about the pathogenesis of hereditary macular diseases is still very circumscript. For genetic determination, a knowledge of the coincidence of eye symptoms and other defined common symptoms is helpful. The purpose of this paper was to present two sisters of a family of consanguineous parents with the combination of hypotrichosis of the head and macular dystrophy in the context of a tricho-ocular malformation of an ectodermal dysplasia. A review of the recent literature is included. Patients and methods: Two 13- and 17-year-old sisters presented at our hospital with reduced visual acuity because of symmetrical central changes of the retinal pigment epithelium and chorioatrophic scars according to macular dystrophy combined with hypotrichosis capitis. We performed fundus perimetry and histological examinations of the hair. Results: The 13-year-old patient exhibited central changes of the retinal pigment epithelium leading to a relative central scotoma for Goldmann I/4 during fundus perimetry in both eyes (visual acuity 0.125 and 0.4). We found central chorioatrophic scars, followed by absolute central scotomas, with unstable fixation in the upper retinal hemisphere in her 17-year-old sister with reduced visual acuity (0.16 and 0.2). Conclusion: There are few descriptions of the association of macular dystrophy and hypotrichosis. The combination of hypotrichosis and macular dystrophy could make genetical analysis easier. Mutational analysis of the TIMP-3 gene that has previously been associated with Sorsby fundus dystrophy did not reveal any disease-causing mutations in our patients.
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  • 6
    ISSN: 1433-0423
    Keywords: Key words Sorsby fundus dystrophy • ; Age-related macular degeneration • ; Chromosome 22q13-qter • TIMP3 gene ; Schlüsselwörter Sorsbys Fundusdystrophie • Altersabhängige Makuladegeneration • Chromosom 22q13-qter • TIMP3-Gen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Fragestellung: Es sollen Fragen der genetischen Heterogenität bei Sorsbys Fundusdystrophie (SFD) sowie eine mögliche Modellfunktion der SFD für andere Makulopathien geklärt werden. Dies ist aufgrund der Identifizierung und Charakterisierung des verantwortlichen Gens (Gewebsinhibitor der Metalloproteinasen-3, TIMP3) auf Chromosom 22q13-qter möglich geworden. Patienten und Methode: Molekulargenetische Mutationsanalysen wurden bei fünf nicht verwandten, sowie 18 verwandten britischen SFD-Familien, bei 143 Patienten mit altersabhängiger Makuladegeneration (AMD), bei 28 Patienten mit adulter vitelliformer Makuladystrophie (AVMD), bei 21 Patienten mit zentraler, areolärer Aderhautdystrophie (CACD) und bei 25 Individuen mit unspezifischen Makulopathien durchgeführt. Ergebnisse: Der autosomal dominante Erbmodus der SFD wurde molekulargenetisch bestätigt. Dabei wurden 5 individuelle, pathologische TIMP3-Mutationen, die zusätzliche Zysteinreste in die C-terminale Region des TIMP3-Proteins einführen, in den untersuchten SFD-Stammbäumen nachgewiesen. Betroffene Individuen von insgesamt 18 SFD-Familien aus Großbritannien, Kanada, Oregon und Südafrika sind Träger einer identischen Ser181Cys-Mutation, die aufgrund der Resultate einer genetischen Haplotypanalyse auf einen gemeinsamen Ursprung zurückgehen sollte. Die phänotypische Variabilität der Ser181Cys-Mutation wurde daraufhin neu bewertet. Schließlich ergab ein Mutationsscreening bei 217 Patienten mit verschiedenen Makulopathien keine weiteren Mutationen im TIMP3-Gen. Schlußfolgerung: TIMP3-Mutationen wurden bislang eindeutig und ausschließlich mit Sorsbys Fundusdystrophie assoziiert. Daher stellt diese Erkrankung eine genetisch homogene, autosomal dominante Form der Makuladegeneration dar, die eine vollständige Penetranz, jedoch variable Expressivität aufweist.
    Notes: Summary Background: The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the gene underlying SFD pathology has made it possible to address the question of genetic heterogeneity in this disorder. In addition, it now has become feasible to clarify whether SFD is directly involved in other maculopathies and, in particular, may represent a genetic model for age-related macular degeneration. Patients: Genetic analyses were performed in five unrelated and 18 related British SFD pedigrees as well as in 143 patients affected with age-related macular degeneration, 28 patients with adult vitelliform macular dystrophy, 21 patients with central areolar choroidal dystrophy and 25 individuals with other forms of macular dystrophies. Results: Molecular genetic analyses confirmed the autosomal dominant mode of inheritance in SFD. In all five unrelated SFD pedigrees individual TIMP3 mutations were identified introducing an additional cysteine residue into the C-terminal region of the mature protein. Affected individuals from 18 SFD families residing in Great Britain, Canada, Oregon and South Africa were found to carry a common ancestral Ser181Cys mutation. The clinical variability of this Ser181Cys mutation was reevaluated. A mutational screen in 217 patients with various maculopathies revealed no disease-causing mutations in the TIMP3 gene. Conclusion: So far, TIMP3 mutations have exclusively been associated with SFD. Therefore, this disorder appears to be genetically homogeneous with complete penetrance but variable expressivity.
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  • 7
    ISSN: 1433-0423
    Keywords: Key words North Carolina macular dystrophy • Hereditary maculopathy • Linkage analysis • Good visual prognosis ; Schlüsselwörter North-Carolina-Makuladystrophie • Hereditär • Kopplungsanalyse • Gute Prognose
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Fragestellung: Die North-Carolina-Makuladystrophie (NCMD) ist eine seltene autosomal-dominante Makulopathie mit stark variabler Expressivität. Aus 247 Mitgliedern einer amerikanischen Familie ist die genetische Zuordnung auf Chromosom 6q14-q16.2 gelungen. In Europa sind nur wenige Familien bekannt, davon bislang 1 in Deutschland. Aufgrund eines Zufallsbefunds konnte eine 2. Familie in Deutschland mit NCMD entdeckt werden. Da mitunter noch Zweifel hinsichtlich der Prognose geäußert werden, sollen die Befunde der betroffenen Familienmitglieder vorgestellt werden. Patienten und Methode: 18 Familienmitglieder im Alter von 2–65 Jahren aus 3 Generationen wurden klinisch und molekulargenetisch untersucht. Bei einzelnen Betroffenen wurden zusätzliche Tests, wie Farbensehen, EOG, ERG und Mikroperimetrie, durchgeführt. Ergebnisse: Von den 18 Mitgliedern waren 10 betroffen. Alle Ausprägungsgrade der NCMD waren in starker Variabilität vertreten. Der Visus der Betroffenen lag zwischen 0,32 und 1,0 und korrelierte nicht mit dem Ausprägungsgrad oder dem Alter. Mikroperimetrisch konnte bei den untersuchten Personen zentrale Fixation nachgewiesen werden. Mittels Kopplungsanalyse konnten die Lokalisation des NCMD-Gens weiter eingegrenzt und die Annahme der Allelie zur zentralen areolaren Pigmentepitheldystrophie (CAPED) unterstützt werden. Schlußfolgerung: In allen 3 Generationen vergleichbare Angaben zur zentralen Sehschärfe bestätigen die Annahme, daß die Erkrankung keine Progredienz aufweist. Beim Aspekt einer geographischen Atrophie mit gutem Visus sollte an eine NCMD gedacht und eine genetische Untersuchung durchgeführt werden.
    Notes: Background: North Carolina macular dystrophy (NCMD) is a rare autosomal dominant maculopathy with highly variable expressivity. Genetic analysis of an American family consisting of 247 members out of which 96 were affected with NCMD allowed chromosomal assignment of the NCMD locus to 6q14-q16.2. Few families with NCMD are known in Europe, one of these is living in Germany. By routine investigation, a second family affected with NCMD was detected in Germany. As some authors still doubt the good prognosis of this disease, our results should be added to the experience of others. Patients and methods: In a total of 18 family members from three generations between the age of 2 and 65 years, clinical investigations and genetic analysis was carried out. Some individuals had additional examinations such as colour contrast sensitivity, EOG, ERG, and microperimetry. Results: Ten of 18 family members turned out to be affected. All grades of NCMD were present with great variability. Visual acuity ranged from 0.32 to 1.0 and did not correlate to the grade of the disease or to the age of the person. In those patients who underwent microperimetry, central fixation was confirmed. Genetic linkage analysis further narrowed the region harbouring the NCMD locus and supported the assumption that the central areolar pigment epithelial dystrophy (CAPED) is an allelic disorder. Conclusion: Similar visual acuity in three generations of NCMD patients supports the observation that NCMD is not a progressive disorder. If geographic atrophy is found in a patient with good visual acuity, NCMD should be considered and genetic analysis should be carried out.
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  • 8
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23 between markers DXS722 and DXS255. We identified a retina-specific calcium channel α 1-subunit gene (CACNA1F) in this region, consisting of 48 exons encoding ...
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  • 9
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed countries. Among these disorders, Sorsby's fundus dystrophy (SFD), an autosomal dominant condition, provides an excellent mendelian model for ...
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