Rekurrente Blasenmole 1
Die rekurrente Blasenmole vom Typ 1 ist eine autosomal rezessive Erkrankung die durch Mutationen im NALP7-Gen hervorgerufen wird.
Gliederung
Hypomethylierungs-Syndrom
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DNMT1
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DNMT3A
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DNMT3B
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KHDC3L
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MECP2
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NLRP2
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NLRP7
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Rekurrente Blasenmole 1
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NLRP7
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Rekurrente Blasenmole 2
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ZFP57
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Referenzen:
| 1. |
Vejerslev LO et. al. (1991) Hydatidiform mole and fetus with normal karyotype: support of a separate entity. [^] |
| 2. |
Moglabey YB et. al. (1999) Genetic mapping of a maternal locus responsible for familial hydatidiform moles. [^] |
| 3. |
Sensi A et. al. (2000) Mole maker phenotype: possible narrowing of the candidate region. [^] |
| 4. |
Fisher RA et. al. (2002) The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. [^] |
| 5. |
Murdoch S et. al. (2006) Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. [^] |
| 6. |
Djuric U et. al. (2006) Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. [^] |
| 7. |
Deveault C et. al. (2009) NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. [^] |
| 8. |
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. [^] |
| 9. |
Andreasen L et. al. (2012) Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221. [^] |
| 10. |
Fallahian M et. al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. [^] |
| 11. |
Nguyen NM et. al. (2014) Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. [^] |
| 12. |
Kajii T et. al. (1977) Androgenetic origin of hydatidiform mole. [^] |
| 13. |
Lindor NM et. al. (1992) A genetic review of complete and partial hydatidiform moles and nonmolar triploidy. [^] |
| 14. |
Fisher RA et. al. (1988) Genetically homozygous choriocarcinoma following pregnancy with hydatidiform mole. [^] |
| 15. |
Ambani LM et. al. (1980) Familial occurrence of trophoblastic disease - report of recurrent molar pregnancies in sisters in three families. [^] |
| 16. |
Seoud M et. al. (1995) Recurrent molar pregnancies in a family with extensive intermarriage: report of a family and review of the literature. [^] |
| 17. |
Sunde L et. al. (1993) Genetic analysis of repeated, biparental, diploid, hydatidiform moles. [^] |
| 18. |
Helwani MN et. al. () A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution. [^] |
| 19. |
El-Maarri O et. al. (2003) Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles. [^] |
| 20. |
Slim R et. al. (2007) The genetics of hydatidiform moles: new lights on an ancient disease. [^] |
