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Modifiers of clinical glaucoma presentation

Glaucoma modifiers in this group genes are summarized that may have an impact on the clinical presentation of a glaucoma be it hereditary or acquired.

Systematic

Hereditary glaucoma
Axenfeld-Rieger Anomaly
Modifiers of clinical glaucoma presentation
COL15A1
COL18A1
Nail-patella syndrome
OPA1
Open angle glaucoma 1
Open angle glaucoma 3

References:

1.

Connelly JJ et al. (2013) Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

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2.

Wiggs JL et al. (2013) Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma.

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3.

Aldahmesh MA et al. (2013) No evidence for locus heterogeneity in Knobloch syndrome.

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4.

Joyce S et al. (2010) Locus heterogeneity and Knobloch syndrome.

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5.

Mahajan VB et al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

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6.

Paisán-Ruiz C et al. (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.

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7.

Khaliq S et al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

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8.

Shi H et al. (2007) Nucleolin is a receptor that mediates antiangiogenic and antitumor activity of endostatin.

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9.

Keren B et al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

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10.

Suzuki OT et al. (2005) How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?

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11.

Utriainen A et al. (2004) Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.

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12.

Menzel O et al. (2004) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

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13.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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14.

Myers JC et al. (1992) Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region.

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15.

Rasi K et al. (2010) Collagen XV is necessary for modeling of the extracellular matrix and its deficiency predisposes to cardiomyopathy.

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16.

Eklund L et al. (2001) Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice.

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17.

Sasaki T et al. (2000) Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity.

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18.

Ramchandran R et al. (1999) Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.

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19.

Hägg PM et al. (1998) Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 gene.

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20.

Hägg PM et al. (1997) Cloning of mouse type XV collagen sequences and mapping of the corresponding gene to 4B1-3. Comparison of mouse and human alpha 1 (XV) collagen sequences indicates divergence in the number of small collagenous domains.

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21.

Hägg PM et al. (1997) Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney.

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22.

Myers JC et al. (1996) Type XV collagen exhibits a widespread distribution in human tissues but a distinct localization in basement membrane zones.

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23.

Muragaki Y et al. (1994) The human alpha 1(XV) collagen chain contains a large amino-terminal non-triple helical domain with a tandem repeat structure and homology to alpha 1(XVIII) collagen.

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24.

Rehn M et al. (1994) Primary structure of the alpha 1 chain of mouse type XVIII collagen, partial structure of the corresponding gene, and comparison of the alpha 1(XVIII) chain with its homologue, the alpha 1(XV) collagen chain.

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25.

Kivirikko S et al. (1994) Primary structure of the alpha 1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene.

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26.

Huebner K et al. (1992) Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22.

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27.

OMIM.ORG article

Omim 120328 external link
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