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  1. Book: Genes and common diseases

    Wright, Alan F. / Hastie, Nicholas D.

    2007  

    Author's details Alan Wright ; Nicholas Hastie
    Keywords Genetic Predisposition to Disease ; Medical genetics
    Subject code 616.042
    Language English
    Size XV, 544 S. : Ill., graph. Darst.
    Publisher Cambridge Univ. Press
    Publishing place Cambridge u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT015031739
    ISBN 0-521-54100-X ; 978-0-521-54100-8 ; 0-521-83339-6 ; 978-0-521-83339-4
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2007 A 4449 order for loan Magazin

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  2. Book: Molecular genetics of inherited eye disorders

    Wright, Alan F.

    (Modern genetics ; 2)

    1994  

    Author's details ed. by Alan F. Wright
    Series title Modern genetics ; 2
    Collection
    Keywords Eye Diseases / genetics ; Genetics, Biochemical ; Augenkrankheit ; Erbkrankheit
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten ; Ophthalmopathia ; Ophthalmopathie ; Augenerkrankung
    Language English
    Size XIV, 528 S. : Ill., graph. Darst.
    Publisher Harwood
    Publishing place Chur
    Publishing country Switzerland
    Document type Book
    HBZ-ID HT006861250
    ISBN 3-7186-5493-8 ; 978-3-7186-5493-2
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1996 A 597 order for loan Magazin

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  3. Article ; Online: Long-term effects of retinal gene therapy in childhood blindness.

    Wright, Alan F

    The New England journal of medicine

    2015  Volume 372, Issue 20, Page(s) 1954–1955

    MeSH term(s) Animals ; DNA, Complementary/administration & dosage ; Genetic Therapy ; Humans ; Leber Congenital Amaurosis/therapy ; Photoreceptor Cells, Vertebrate/pathology ; cis-trans-Isomerases/genetics
    Chemical Substances DNA, Complementary ; retinoid isomerohydrolase (EC 3.1.1.64) ; cis-trans-Isomerases (EC 5.2.-)
    Language English
    Publishing date 2015-05-04
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMe1503419
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Genome-Wide Association Studies Identify Disease Mechanisms in Age-Related Macular Degeneration.

    Wright, Alan F / Barlow, Paul N

    Ophthalmology

    2018  Volume 125, Issue 7, Page(s) 962–964

    MeSH term(s) Complement Activation ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Macular Degeneration
    Language English
    Publishing date 2018-06-22
    Publishing country United States
    Document type Editorial ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 392083-5
    ISSN 1549-4713 ; 0161-6420
    ISSN (online) 1549-4713
    ISSN 0161-6420
    DOI 10.1016/j.ophtha.2018.03.034
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ul II Zs.83: Show issues Location:
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    Zs.MO 533: Show issues

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  5. Article ; Online: Choroidal neovascularisation in a predicted female choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor.

    Ang, Juan Lyn / Wright, Alan F / Dhillon, Baljean / Cackett, Peter

    European journal of ophthalmology

    2021  Volume 31, Issue 1_suppl, Page(s) 4–10

    Abstract: Purpose: To report a case of choroidal neovascularisation and leakage in a myopic female predicted to be a choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor (anti-VEGF).: Methods: Case report.: Results: A ... ...

    Abstract Purpose: To report a case of choroidal neovascularisation and leakage in a myopic female predicted to be a choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor (anti-VEGF).
    Methods: Case report.
    Results: A female magazine editor presented with sudden decrease in vision in her right eye, with Snellen visual acuities (VAs) of 1/60 and 3/60 in the right and left eyes respectively. She was diagnosed with choroidal neovascularisation (CNV) formation and subretinal haemorrhage in her right eye. This is on a background of previous presentations, the first of which was 20 years ago for declining left eye vision. She was subsequently found to be a predicted choroideraemia carrier. However, she also has high myopia, and it is unclear whether the predicted choroideraemia carrier status or high myopia is the main underlying cause of her CNV, although we believe that the former is more likely. The first episode of CNV in her right eye was treated successfully with intravitreal anti-VEGF. However, she experienced four further CNV reactivations in her right eye, all of which were treated successfully with anti-VEGF. At her last follow-up visit to date, Snellen VAs were 6/9 and 3/60 in her right and left eye respectively.
    Conclusion: This is a unique case of CNV formation in a predicted choroideraemia carrier who also has co-existent high myopia. Prompt treatment of CNV activity with anti-VEGF has been efficacious in prevention of subretinal fibrosis and irreversible vision loss and allowed the patient to continue working in her chosen career.
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Angiogenesis Inhibitors/therapeutic use ; Carrier State ; Choroidal Neovascularization/diagnosis ; Choroidal Neovascularization/drug therapy ; Choroidal Neovascularization/physiopathology ; Choroideremia/diagnosis ; Choroideremia/genetics ; Choroideremia/physiopathology ; Electroretinography ; Female ; Fluorescein Angiography ; Humans ; Intravitreal Injections ; Myopia, Degenerative/complications ; Myopia, Degenerative/physiopathology ; Tomography, Optical Coherence ; Vascular Endothelial Growth Factor A/antagonists & inhibitors ; Visual Acuity/physiology ; Young Adult
    Chemical Substances Adaptor Proteins, Signal Transducing ; Angiogenesis Inhibitors ; CHM protein, human ; VEGFA protein, human ; Vascular Endothelial Growth Factor A
    Language English
    Publishing date 2021-04-22
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1089461-5
    ISSN 1724-6016 ; 1120-6721
    ISSN (online) 1724-6016
    ISSN 1120-6721
    DOI 10.1177/1120672120965495
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3342: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  6. Article ; Online: In vivo

    Menger, Katja E / Logan, Angela / Luhmann, Ulrich F O / Smith, Alexander J / Wright, Alan F / Ali, Robin R / Murphy, Michael P

    Redox Biochemistry and Chemistry

    2023  Volume 5-6, Page(s) None

    Abstract: Retinitis pigmentosa (RP) is a disease characterised by photoreceptor cell death. It can be initiated by mutations in a number of different genes, primarily affecting rods, which will die first, resulting in loss of night vision. The secondary death of ... ...

    Abstract Retinitis pigmentosa (RP) is a disease characterised by photoreceptor cell death. It can be initiated by mutations in a number of different genes, primarily affecting rods, which will die first, resulting in loss of night vision. The secondary death of cones then leads to loss of visual acuity and blindness. We set out to investigate whether increased mitochondrial reactive oxygen species (ROS) formation, plays a role in this sequential photoreceptor degeneration. To do this we measured mitochondrial H
    Language English
    Publishing date 2023-12-01
    Publishing country England
    Document type Journal Article
    ISSN 2773-1766
    ISSN (online) 2773-1766
    DOI 10.1016/j.rbc.2023.100007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Genomics of common diseases: approaching the tipping point.

    Wright, Alan F

    Genome medicine

    2011  Volume 3, Issue 10, Page(s) 70

    Abstract: A report on the Wellcome Trust Scientific Conference 'The Genomics of Common Diseases 2011', held at the Wellcome Trust Conference Centre, Hinxton, Cambridge, UK, 30 August to 2 September 2011. ...

    Abstract A report on the Wellcome Trust Scientific Conference 'The Genomics of Common Diseases 2011', held at the Wellcome Trust Conference Centre, Hinxton, Cambridge, UK, 30 August to 2 September 2011.
    Language English
    Publishing date 2011-10-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/gm286
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies.

    Wright, Alan F

    Nature genetics

    2011  Volume 43, Issue 12, Page(s) 1176–1177

    Abstract: A careful analysis of risk haplotypes in relation to age-related macular degeneration (AMD) susceptibility has led to the identification of a rare, high-penetrance variant in the complement factor H (CFH) gene that is also causally associated with ... ...

    Abstract A careful analysis of risk haplotypes in relation to age-related macular degeneration (AMD) susceptibility has led to the identification of a rare, high-penetrance variant in the complement factor H (CFH) gene that is also causally associated with atypical hemolytic uremic syndrome (aHUS) and related glomerulopathies. This finding provides a convincing causal mechanism linking the two diseases and develops a paradigm for the genetic architecture of a common and complex disease.
    MeSH term(s) Complement Factor H/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Macular Degeneration/genetics ; Male ; Penetrance
    Chemical Substances CFH protein, human ; Complement Factor H (80295-65-4)
    Language English
    Publishing date 2011-11-28
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.1012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3613: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 46: Show issues

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  9. Article: Inflammatory biomarkers for AMD.

    Stanton, Chloe M / Wright, Alan F

    Advances in experimental medicine and biology

    2014  Volume 801, Page(s) 251–257

    Abstract: Age-related macular degeneration (AMD) is the leading cause of blindness worldwide, affecting an estimated 50 million individuals aged over 65 years.Environmental and genetic risk-factors implicate chronic inflammation in the etiology of AMD, ... ...

    Abstract Age-related macular degeneration (AMD) is the leading cause of blindness worldwide, affecting an estimated 50 million individuals aged over 65 years.Environmental and genetic risk-factors implicate chronic inflammation in the etiology of AMD, contributing to the formation of drusen, retinal pigment epithelial cell dysfunction and photoreceptor cell death. Consistent with a role for chronic inflammation in AMD pathogenesis, several inflammatory mediators, including complement components, chemokines and cytokines, are elevated at both the local and systemic levels in AMD patients. These mediators have diverse roles in the alternative complement pathway, including recruitment of inflammatory cells, activation of the inflammasome, promotion of neovascularisation and in the resolution of inflammation. The utility of inflammatory biomarkers in assessing individual risk and progression of the disease is controversial. However, understanding the role of these inflammatory mediators in AMD onset, progression and response to treatment may increase our knowledge of disease pathogenesis and provide novel therapeutic options in the future.
    MeSH term(s) Biomarkers/metabolism ; Complement System Proteins/immunology ; Complement System Proteins/metabolism ; Cytokines/immunology ; Cytokines/metabolism ; Humans ; Macular Degeneration/immunology ; Macular Degeneration/pathology ; Retinitis/immunology ; Retinitis/pathology
    Chemical Substances Biomarkers ; Cytokines ; Complement System Proteins (9007-36-7)
    Language English
    Publishing date 2014
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2214-8019 ; 0065-2598
    ISSN (online) 2214-8019
    ISSN 0065-2598
    DOI 10.1007/978-1-4614-3209-8_32
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Unilateral retinitis pigmentosa occurring in an individual with a mutation in the

    Sim, Peng Yong / Jeganathan, V Swetha E / Wright, Alan F / Cackett, Peter

    BMJ case reports

    2018  Volume 2018

    Abstract: This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa, who first presented at the age of 12 years. Fundus photography at the time revealed unilateral pigmentary retinopathy, which was associated with ... ...

    Abstract This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa, who first presented at the age of 12 years. Fundus photography at the time revealed unilateral pigmentary retinopathy, which was associated with extinguished electroretinogram (ERG) signal. At 35 years of age, fundus examination revealed deterioration of pre-existing unilateral pigmentary retinopathy with progressive visual field defect detected on Goldmann visual field testing. ERG findings remained unchanged and multifocal ERG showed unilateral decrease in amplitude in the affected eye. The patient was referred for genetic counselling. Next-generation sequencing identified a deleterious heterozygous c.118T>G (p.Cys40Gly) mutation in the
    MeSH term(s) Adult ; Electroretinography ; Female ; Genetic Counseling ; Humans ; Membrane Proteins/genetics ; Mutation ; Retinitis Pigmentosa/complications ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/diagnostic imaging ; Retinitis Pigmentosa/genetics ; Vision Disorders/complications ; Vision Disorders/diagnosis ; Vision Disorders/diagnostic imaging ; Visual Field Tests
    Chemical Substances CLRN1 protein, human ; Membrane Proteins
    Language English
    Publishing date 2018-03-15
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2017-222045
    Database MEDical Literature Analysis and Retrieval System OnLINE

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