Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

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

Referenzen:

1.

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

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2.

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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3.

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

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4.

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

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5.

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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6.

None (1997) A tenascin knockout with a phenotype.

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7.

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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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.

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

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10.

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

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11.

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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12.

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

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13.

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

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14.

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

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15.

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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16.

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

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17.

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

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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.

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

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20.

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

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21.

Orphanet article

Orphanet ID 120194 external link
22.

NCBI article

NCBI 7148 external link
23.

OMIM.ORG article

Omim 600985 external link
Update: 14. August 2020
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