Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Modifikatoren der Glaukomausprägung

In der Gruppe der Glaukommodifikatoren werden Gene zusammengefasst, deren Mutation selbst kein Glaukom auslösen kann, aber bestimmte Variationen in diesen Genen können die klinische Ausprägung beeinflussen.

Gliederung

Hereditäres Glaucom
Axenfeld-Rieger Anomalie
Modifikatoren der Glaukomausprägung
COL15A1
COL18A1
Nagel-Patella-Syndrom
OPA1
Weitwinkelglaukom 1
Weitwinkelglaukom 3

Referenzen:

1.

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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2.

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

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3.

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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4.

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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5.

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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6.

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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7.

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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8.

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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9.

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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10.

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

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11.

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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12.

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

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13.

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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14.

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

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15.

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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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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