Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Tenascin XB

Das TNXB-Gen kodiert ein extrazelluläres Matrixprotein welches einen anti-adhäsiven Effekt ausübt. Mutationen finden sich bei autosomal rezessivem Ehlers-Danlos-Syndrom und dominamtem familiärem vesicoureteralem Reflux 8.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
TNXB
Familiärer vesicoureteraler Reflux 8
TNXB

Referenzen:

1.

Matsumoto K et. al. (1992) Cluster of fibronectin type III repeats found in the human major histocompatibility complex class III region shows the highest homology with the repeats in an extracellular matrix protein, tenascin.

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2.

Gitelman SE et. al. (1992) Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.

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3.

Saga Y et. al. (1992) Mice develop normally without tenascin.

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4.

Xu X et. al. (1990) Presence of a vertebrate fibrinogen-like sequence in an echinoderm.

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5.

Morel Y et. al. (1989) Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus.

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6.

Matsumoto K et. al. (1994) The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C.

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7.

Bristow J et. al. (1993) Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B.

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8.

Tee MK et. al. (1995) Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X.

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9.

Speek M et. al. (1996) Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes.

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10.

None (1997) A tenascin knockout with a phenotype.

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11.

Burch GH et. al. (1997) Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

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12.

Ikuta T et. al. (1998) Structural analysis of mouse tenascin-X: evolutionary aspects of reduplication of FNIII repeats in the tenascin gene family.

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13.

Mao JR et. al. (2001) The Ehlers-Danlos syndrome: on beyond collagens.

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14.

Schalkwijk J et. al. (2001) A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

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15.

Mao JR et. al. (2002) Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.

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16.

Koppens PF et. al. (2002) Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.

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17.

Zweers MC et. al. (2003) Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

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18.

Zweers MC et. al. (2005) Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

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19.

Gbadegesin RA et. al. (2013) TNXB mutations can cause vesicoureteral reflux.

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20.

Pénisson-Besnier I et. al. (2013) Compound heterozygous mutations of the TNXB gene cause primary myopathy.

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