Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Extrazelluläres Matrixprotein FRAS1

Das FREM1-Gen kodiert ein extrazelluläres Matrixprotein welches an der Regulation der Ontogenese und der Immunantwort beteiligt ist. Mutationen führen zu autosomal rezessivem Fraser-Syndrom. Weiterhin sind Mutationen bei renalen Fehlbildungen beobachtet.

Diagnostik:

Clinic 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:

BNAR-Syndrom
FREM1
Marles-Syndrom
FREM1
Trigonocephalie 2
FREM1

Referenzen:

1.

Kiyozumi D et. al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

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2.

None (2001) Micro-ablepharon of the upper eyelids and vaginal atresia.

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3.

Al-Gazali LI et. al. (2002) An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.

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4.

Smyth I et. al. (2004) The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.

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5.

Li C et. al. (2007) Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

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6.

Alazami AM et. al. (2009) FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

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7.

Slavotinek AM et. al. (2011) Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

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8.

Vissers LE et. al. (2011) Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

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9.

Hudson RC et. al. (2012) Bioinformatics Analysis of the FREM1 Gene-Evolutionary Development of the IL-1R1 Co-Receptor, TILRR.

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10.

Zhang X et. al. (2012) Distinct control of MyD88 adapter-dependent and Akt kinase-regulated responses by the interleukin (IL)-1RI co-receptor, TILRR.

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11.

Rhodes DM et. al. (2015) Computational Modelling of NF-κB Activation by IL-1RI and Its Co-Receptor TILRR, Predicts a Role for Cytoskeletal Sequestration of IκBα in Inflammatory Signalling.

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