Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Latent-transforming growth factor beta Bindungsprotein

Das LTBP2-gen kodiert einen TGF-Rezeptor der für die Zelladhäsion verantwortlich ist. Mutationen sind für das autosomal rezessive Glaukom 3D verantwortlich.

Diagnostik:

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

Krankheiten:

Weitwinkelglaukom 3D
LTBP2

Referenzen:

1.

Morén A et. al. (1994) Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein.

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2.

Shipley JM et. al. (2000) Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development.

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3.

Oklü R et. al. (2000) The latent transforming growth factor beta binding protein (LTBP) family.

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4.

Ali M et. al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma.

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5.

Narooie-Nejad M et. al. (2009) Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

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6.

Désir J et. al. (2010) LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

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7.

Kumar A et. al. (2010) A homozygous mutation in LTBP2 causes isolated microspherophakia.

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8.

Azmanov DN et. al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

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9.

Khan AO et. al. (2011) Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

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10.

Haji-Seyed-Javadi R et. al. (2012) LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

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