Homeobox protein Nkx-2.5
The NKX2-5 gene encodes a transcription factor which is involved in heart and thyroid development. Mutations cause various cardiac abnormalities and autosomal dominant congenital nongoitrous hypothyroidism 5.
Genetests:
Related Diseases:
References:
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Reamon-Buettner SM et al. (2004) Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
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Basson CT et al. (1999) Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
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3. |
Pauli RM et al. (1999) Ventricular noncompaction and distal chromosome 5q deletion.
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4. |
Kasahara H et al. (2000) Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease.
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5. |
Hosoda T et al. (1999) Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient.
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6. |
Hiroi Y et al. (2001) Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.
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7. |
Habets PE et al. (2002) Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation.
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8. |
Youssoufian H et al. (2002) Mechanisms and consequences of somatic mosaicism in humans.
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9. |
None (2003) Somatic gene mutation and human disease other than cancer.
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10. |
Jay PY et al. (2004) Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system.
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11. |
Pashmforoush M et al. (2004) Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block.
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12. |
Schott JJ et al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5.
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13. |
Inga A et al. (2005) Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.
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14. |
Reamon-Buettner SM et al. (2006) HEY2 mutations in malformed hearts.
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15. |
Moskowitz IP et al. (2007) A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development.
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16. |
Mommersteeg MT et al. (2007) Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium.
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17. |
Yadava RS et al. (2008) RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
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18. |
Nimura K et al. (2009) A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.
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19. |
Mahlaoui N et al. (2011) Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.
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20. |
Koss M et al. (2012) Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.
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21. |
Bolze A et al. (2013) Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
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22. |
Schulkey CE et al. (2015) The maternal-age-associated risk of congenital heart disease is modifiable.
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23. |
Kostrzewa M et al. (1996) Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35.
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24. |
Pease WE et al. (1976) Familial atrial septal defect with prolonged atrioventricular conduction.
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25. |
Watanabe Y et al. (2002) Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
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26. |
McElhinney DB et al. (2003) NKX2.5 mutations in patients with congenital heart disease.
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27. |
Hirayama-Yamada K et al. (2005) Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
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28. |
Gutierrez-Roelens I et al. (2006) A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
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29. |
Chen Y et al. (2010) A novel mutation of GATA4 in a familial atrial septal defect.
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30. |
Peng T et al. (2010) Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
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31. |
Wang J et al. (2011) A novel NKX2-5 mutation in familial ventricular septal defect.
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32. |
Benson DW et al. (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
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33. |
Goldmuntz E et al. (2001) NKX2.5 mutations in patients with tetralogy of fallot.
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34. |
Rauch R et al. (2010) Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
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35. |
De Luca A et al. (2011) New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
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Stallmeyer B et al. (2010) Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
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37. |
Dentice M et al. (2006) Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
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38. |
Lyons I et al. (1995) Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5.
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39. |
Shiojima I et al. (1995) Assignment of cardiac homeobox gene CSX to human chromosome 5q34.
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40. |
Komuro I et al. (1993) Csx: a murine homeobox-containing gene specifically expressed in the developing heart.
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41. |
Himmelbauer H et al. (1994) High-resolution genetic analysis of a deletion on mouse chromosome 17 extending over the fused, tufted, and homeobox Nkx2-5 loci.
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42. |
None (1993) The gene tinman is required for specification of the heart and visceral muscles in Drosophila.
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43. |
Turbay D et al. (1996) Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx.
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44. |
Orphanet article
Orphanet ID 123797
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45. |
NCBI article
NCBI 1482
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46. |
OMIM.ORG article
Omim 600584
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47. |
Wikipedia article
Wikipedia EN (Homeobox_protein_Nkx-2.5)
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Update: Aug. 14, 2020