Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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:

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

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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.

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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.

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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.

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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.

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]
26.

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

[^]

 

 
Ihre Nachricht: