The molecular biology of Norrie's disease

Black, Graeme C M; Redmond, R M

doi:10.1038/eye.1994.124

Cited by 21 publications

(5 citation statements)

References 22 publications

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“…More abundant proteins were norrin, vitronectin and members of the collagen families IV, VI and XVIII, respectively. Norrin is a growth factor, which importantly contributes to vascular development [ 48 ] and is known to bind to BM-specific ECM proteins [ 49 ]. A deficiency of norrin causes X-linked exudative vitreoretinopathy, a defective development of intraocular blood vessel resulting in retinal detachment and eventually causes blindness [ 50 ].…”

Section: Discussionmentioning

confidence: 99%

Diabetes-related changes in the protein composition and the biomechanical properties of human retinal vascular basement membranes

et al. 2017

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Basement membranes (BMs) are specialized sheets of extracellular matrix that outline epithelial cell layers, muscle fibers, blood vessels, and peripheral nerves. A well-documented histological hallmark of progressing diabetes is a major increase in vascular BM thickness. In order to investigate whether this structural change is accompanied by a change in the protein composition, we compared the proteomes of retinal vascular BMs from diabetic and non-diabetic donors by using LC-MS/MS. Data analysis showed that seventeen extracellular matrix (ECM)–associated proteins were more abundant in diabetic than non-diabetic vascular BMs. Four ECM proteins were more abundant in non-diabetic than in diabetic BMs. Most of the over-expressed proteins implicate a complement-mediated chronic inflammatory process in the diabetic retinal vasculature. We also found an up-regulation of norrin, a protein that is known to promote vascular proliferation, possibly contributing to the vascular remodeling during diabetes. Many of the over-expressed proteins were localized to microvascular aneurisms. Further, the overall stoichiometry of proteins was changed, such that the relative abundance of collagens in BMs from diabetic patients was higher than normal. Biomechanical measurements of vascular BM flat mounts using AFM showed that their outer surface was softer than normal.

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Section: Discussionmentioning

confidence: 99%

Diabetes-related changes in the protein composition and the biomechanical properties of human retinal vascular basement membranes

et al. 2017

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“…The open reading frame begins part of the way through exon 2 and encodes a protein of 133 amino acids 1213 16 The three exons of NDP were analysed by polymerase chain reaction (PCR) amplification of genomic DNA, using intronic primer sequences that amplified the three exons of NDP 17. PCR amplification was performed with 100 ng genomic DNA, 10 pmol of each primer, 1.5 mol/l betaine (Sigma, to reduce secondary structure), 0.5 nmol dNTP, and 0.5 U Taq polymerase (Biotaq) in a NH 4 + buffer (Bioline) containing 1.5 mmol/l MgCl 2 .…”

Section: Methodsmentioning

confidence: 99%

De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity

Talks

2001

Journal of Medical Genetics

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“…Patients also develop progressive sensorineural deafness and varying degrees of developmental delay. More than 100 different mutations of the NDP gene have been identified in Norrie disease, suggesting an angiogenic role for NDP[99]. It has been proposed that retinal telangiectasis is secondary to somatic mutation in the NDP gene[98].…”

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confidence: 98%

Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

Timur

Driscoll

Wang

2005

CMLS, Cell. Mol. Life Sci.

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Vascular morphogenesis is a vital process for embryonic development, normal physiologic conditions (e.g. wound healing) and pathological processes (e.g. atherosclerosis, cancer). Genetic studies of vascular anomalies have led to identification of critical genes involved in vascular morphogenesis. A susceptibility gene, VG5Q (formally named AGGF1), was cloned for Klippel-Trenaunay syndrome (KTS). AGGF1 encodes a potent angiogenic factor, and KTS-associated mutations enhance angiogenic activity of AGGF1, defining 'increased angiogenesis' as one molecular mechanism for the pathogenesis of KTS. Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN. Future studies of vascular anomaly genes will provide insights into the molecular mechanisms for vascular morphogenesis, and may lead to the development of therapeutic strategies for treating these and other angiogenesis-related diseases, including coronary artery disease and cancer.

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The molecular biology of Norrie's disease

Cited by 21 publications

References 22 publications

Diabetes-related changes in the protein composition and the biomechanical properties of human retinal vascular basement membranes

Diabetes-related changes in the protein composition and the biomechanical properties of human retinal vascular basement membranes

De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity

Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

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