Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kollagen Typ XVIII, alpha 1

Das COL18A1-Gen kodiert ein Kollagen, welches ähnlich dem Kollagen IV aufgebaut ist und ebenso wie dieses in den Basalmembranen vorkommt. Mutationen führen zum autosomal rezessiven Knobloch-Syndrom und können die klinische Ausprägung von Glaukomen beeinflussen.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Modifikatoren der Glaukomausprägung
COL15A1
COL18A1
Knobloch-Syndrome 1
COL18A1

Referenzen:

1.

Czeizel AE et. al. (1992) The second report of Knobloch syndrome.

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2.

O'Reilly MS et. al. (1994) Angiostatin: a novel angiogenesis inhibitor that mediates the suppression of metastases by a Lewis lung carcinoma.

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3.

Oh SP et. al. (1994) Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins.

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4.

Rehn M et. al. (1994) Alpha 1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagen.

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5.

Oh SP et. al. (1994) Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21.

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6.

Rehn M et. al. (1996) Characterization of the mouse gene for the alpha 1 chain of type XVIII collagen (Col18a1) reveals that the three variant N-terminal polypeptide forms are transcribed from two widely separated promoters.

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7.

O'Reilly MS et. al. (1997) Endostatin: an endogenous inhibitor of angiogenesis and tumor growth.

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8.

Saarela J et. al. (1998) Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.

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9.

Sertié AL et. al. (2000) Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

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10.

Karumanchi SA et. al. (2001) Cell surface glypicans are low-affinity endostatin receptors.

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11.

Iughetti P et. al. (2001) A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.

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12.

Suzuki OT et. al. (2002) Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

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13.

Sudhakar A et. al. (2003) Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.

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14.

Marneros AG et. al. (2003) Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome.

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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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