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

Homeobox-Protein Nkx-2.1

Das NKX2-1-Gen kodiert einen schilddrüsenspezifischen Transkriptionsfaktor. Mutationen führen zu autosomal dominanten Erkrankungen wie nichtmedulläres Schilddrüsenkarzinom, kongenitaler Hypothyreose, Choreoathetosis und neonatalem Atemnotsyndrom.

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

Verknüpfte Erkrankungen:

Hereditäre benigne Chorea
NKX2-1
Choreoathetose mit Hypothyreose und neonatalem Atemnotsyndrom
NKX2-1
Nicht-medulläres Schilddrüsenkarzinom 1
NKX2-1

Referenzen:

1.

Garcia-Barcelo M et al. (2005) TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.

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2.

Taniguchi H et al. (2013) The spatial and temporal origin of chandelier cells in mouse neocortex.

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3.

Winslow MM et al. (2011) Suppression of lung adenocarcinoma progression by Nkx2-1.

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4.

Weir BA et al. (2007) Characterizing the cancer genome in lung adenocarcinoma.

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5.

Holland PW et al. (2007) Classification and nomenclature of all human homeobox genes.

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6.

Garcia-Barceló MM et al. (2007) Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus.

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7.

Dentice M et al. (2005) Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells.

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8.

Seidman JG et al. (2002) Transcription factor haploinsufficiency: when half a loaf is not enough.

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9.

Hamdan H et al. (1998) Structure of the human Nkx2.1 gene.

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10.

Kimura S et al. (1996) The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary.

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11.

Ikeda K et al. (1995) Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells.

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12.

Acebrón A et al. (1995) Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.

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13.

Guazzi S et al. (1990) Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity.

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14.

Thorwarth A et al. (2014) Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

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15.

Zhu NL et al. (2004) NKX2.1 regulates transcription of the gene for human bone morphogenetic protein-4 in lung epithelial cells.

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16.

Trueba SS et al. (2005) PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

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17.

Breedveld GJ et al. (2002) Mutations in TITF-1 are associated with benign hereditary chorea.

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18.

Kleiner-Fisman G et al. (2003) Benign hereditary chorea: clinical, genetic, and pathological findings.

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19.

Devriendt K et al. (1998) Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.

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20.

Iwatani N et al. (2000) Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure.

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21.

Pohlenz J et al. (2002) Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.

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22.

Krude H et al. (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

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23.

Doyle DA et al. (2004) Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

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24.

Asmus F et al. (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

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25.

Carré A et al. (2009) Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

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26.

Ngan ES et al. (2009) A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.

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27.

NCBI article

NCBI 7080 external link
28.

OMIM.ORG article

Omim 600635 external link
29.

Orphanet article

Orphanet ID 156077 external link
30.

Wikipedia Artikel

Wikipedia DE (Thyroidaler_Transkriptionsfaktor_1) external link
Update: 14. August 2020
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