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rdf:type |
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lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0020217,
umls-concept:C0020792,
umls-concept:C0026882,
umls-concept:C0034897,
umls-concept:C0205147,
umls-concept:C0205314,
umls-concept:C0599155,
umls-concept:C0679622,
umls-concept:C1427802,
umls-concept:C1704332
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pubmed:issue |
8
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pubmed:dateCreated |
2009-8-3
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pubmed:abstractText |
NLRP7 (NALP7) has recently been identified as the causative gene for familial recurrent hydatidiform mole (FRHM), a rare autosomal recessive condition in which affected women have recurrent molar pregnancies of diploid biparental origin. To date only a small number of affected families have been described. Our objectives were to investigate the diversity of mutations and their localisation to one or both isoforms of NLRP7, by screening a large series of women with FRHM and to examine the normal expression of NLRP7 in ovarian tissue.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:AshrafiFF,
pubmed-author:DecordovaSS,
pubmed-author:DixonP HPH,
pubmed-author:FallahianMM,
pubmed-author:FisherR ARA,
pubmed-author:HodgesM DMD,
pubmed-author:OzalpSS,
pubmed-author:RepiskaVV,
pubmed-author:SavageP MPM,
pubmed-author:SebireN JNJ,
pubmed-author:SecklM JMJ,
pubmed-author:SensiAA,
pubmed-author:WangC MCM,
pubmed-author:XiangYY,
pubmed-author:ZhaoJJ
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pubmed:issnType |
Electronic
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
569-75
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pubmed:meshHeading |
pubmed-meshheading:19246479-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:19246479-Adult,
pubmed-meshheading:19246479-Family,
pubmed-meshheading:19246479-Female,
pubmed-meshheading:19246479-Histocytochemistry,
pubmed-meshheading:19246479-Humans,
pubmed-meshheading:19246479-Hydatidiform Mole,
pubmed-meshheading:19246479-Leucine,
pubmed-meshheading:19246479-Male,
pubmed-meshheading:19246479-Microsatellite Repeats,
pubmed-meshheading:19246479-Mutation, Missense,
pubmed-meshheading:19246479-Ovary,
pubmed-meshheading:19246479-Polymorphism, Single Nucleotide,
pubmed-meshheading:19246479-Pregnancy,
pubmed-meshheading:19246479-Recurrence
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pubmed:year |
2009
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pubmed:articleTitle |
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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pubmed:affiliation |
Institute of Reproductive and Developmental Biology, Imperial College London, London W12 0NN, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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