NACHT, LRR and PYD domains-containing protein 7
The NLRP7 gene encodes a protein with various regulatory functions. Mutations cause autosomal recessive recurrent hydatidiform mole 1 and may also play a role in hypomethylation syndrome.
Genetests:
Related Diseases:
References:
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Tschopp J et al. (2003) NALPs: a novel protein family involved in inflammation.
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Aghajanova L et al. (2015) No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.
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3. |
Mahadevan S et al. (2014) NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation.
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4. |
Huang JY et al. (2013) A genetic association study of NLRP2 and NLRP7 genes in idiopathic recurrent miscarriage.
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5. |
Slim R et al. (2009) A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.
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6. |
Zhao J et al. (2006) Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole.
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7. |
Kinoshita T et al. (2005) PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion.
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8. |
Okada K et al. (2004) Oncogenic role of NALP7 in testicular seminomas.
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9. |
Agarwal P et al. (2004) Familial recurrent molar pregnancy: a case report.
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10. |
Ozalp S et al. (2001) Recurrent molar pregnancy: report of a case with seven consecutive hydatidiform moles.
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11. |
Nguyen NM et al. (2014) Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
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12. |
Fallahian M et al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.
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13. |
Andreasen L et al. (2012) Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.
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14. |
Wang CM et al. (2009) Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.
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15. |
Deveault C et al. (2009) NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
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16. |
Djuric U et al. (2006) Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.
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17. |
Murdoch S et al. (2006) Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
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18. |
Fisher RA et al. (2002) The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles.
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19. |
Sensi A et al. (2000) Mole maker phenotype: possible narrowing of the candidate region.
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20. |
Moglabey YB et al. (1999) Genetic mapping of a maternal locus responsible for familial hydatidiform moles.
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21. |
Vejerslev LO et al. (1991) Hydatidiform mole and fetus with normal karyotype: support of a separate entity.
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22. |
Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.
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23. |
NCBI article
NCBI 199713
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24. |
OMIM.ORG article
Omim 609661
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25. |
Orphanet article
Orphanet ID 123834
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26. |
Wikipedia article
Wikipedia EN (NLRP7)
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Update: Aug. 14, 2020