Recombinant Human NACHT, LRR and PYD domains-containing protein 7 (NLRP7), partial

1. Targeting the deubiquitinase STAMBP inhibits NALP7 inflammasome activity. PMID: 28492230
2. we propose that rare coding variants in NLRP7 may contribute to the development of IBD. PMID: 29211899
3. Though NLRP7 mutations are reported to be associated with aberrant methylation patterns at imprinted loci in the offspring of mutation carriers, negative screening results in a well-defined cohort of German women indicates that NLRP mutations are not a relevant cause of Preeclampsia. PMID: 28753543
4. NLRP7 contributes to in vitro decidualization of endometrial stromal cells. PMID: 28810880
5. Maternal heterozygous nonsense deletion in NLRP7 leads to recurrent reproductive failure and DNA methylation disturbances in the offspring. PMID: 28561018
6. Eleven novel protein-truncating variants in NLRP7 identified in hydatidiform mole patients. Most of the breakpoints occurred within Alu repeats. PMID: 26956250
7. data underscore the involvement of NLR family pyrin domain containing 7 (NLRP7) in recurrent hydatidiform mole pathophysiology and confirm that DNA methylation of specific regions is critical PMID: 26606510
8. the NLRP7 inflammasome contributes to IL-1beta secretion and induction of pyroptosis in response to M. bovis infection in THP-1 macrophages. PMID: 27043315
9. maternal-effect mutations of NLRP7 are associated with the most severe form of multi-locus imprinting defects in humans PMID: 26544189
10. NLRP7 is involved in Hydatidiform Molar Pregnancy (HYDM1) and interacts with the transcriptional repressor ZBTB16 PMID: 26121690
11. These results provide novel insights into the mechanism of NLRP7 inflammasome assembly. PMID: 26143398
12. NLRP7, depending on the severity of its mutations, regulates the imprinted expression of p57KIP2 and consequently the balance between tissue differentiation and proliferation during early human development. PMID: 25097207
13. NLRP7 thus appears to function in chromatin reprogramming and DNA methylation in the germline or early embryonic development.NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation. PMID: 24105472
14. A statistically non-significant tendency of non-synonymous variants in NLRP7 more frequent in women with familial hydatidiform mole and in women with female family members with hydatidiform mole or non-mole miscarriage. PMID: 23963444
15. Two novel NLRP7-truncating mutations are associated with familial recurrent hydatidiform mole PMID: 23880596
16. A SNP within NLRP7 is associated with recurrent miscarriage. PMID: 23360675
17. In a Mexican population with recurrent hytadiform mole, 60% presented homozygous p.L750V mutations, 25% were compound heterozygotes for p.L750V mutation and the p.E340K variant, and 15% were heterozygous for p.E340K variant. PMID: 23354651
18. Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations. PMID: 23201303
19. genetic association studies in two Egyptian families: This study expands the known cases of mutations in NLRP7 associated with recurrent hydatidiform mole. [CASE REPORT] PMID: 22770628
20. Activation of NLRP7 promoted ASC-dependent caspase-1 activation, IL-1beta and IL-18 maturation, and restriction of intracellular bacterial replication, but not caspase-1-independent secretion of the proinflammatory cytokines IL-6 and tumor necrosis factor-alpha. PMID: 22361007
21. NLRP7 mutations may lead to familial recurrent hydatidiform mole. PMID: 22169519
22. As homozygous NLRP7 mutations are associated with recurrent hydatidiform mole or conception loss, the heterozygous state could represent a risk factor for nonrecurrent mole. PMID: 22646272
23. NLRP7 mutations do not represent a major cause of complete hydatidiform moles of proven androgenetic origin. PMID: 22315435
24. Data report the presence of three novel NLRP7 variants that were found only in patients with sporadic hydatidiform moles but not in 100 controls from the Senegalese general population. PMID: 21948117
25. NLRP7 co-localizes with the Golgi and the microtubule-organizing center and is associated with microtubules. This suggests that NLRP7 mutations may affect cytokine secretion by interfering, directly or indirectly, with their trafficking. PMID: 22025618
26. a new homozygous NLRP7 mutation in patients with recurrent hydatidiform mole PMID: 21439709
27. three new protein-truncating mutations in NLRP7 are described; data suggest that patients with a single defective allele have better reproductive outcomes than patients with two defective alleles PMID: 21507883
28. women with mutations in NLRP7 cannot achieve a normal pregnancy and each molar pregnancy carries risk of malignant transformation PMID: 22130487
29. study of familial and sporadic recurrent hydatidiform moles; report of the first Tunisian patients: 2 sisters with homozygous NLRP7 mutations (p.E570X) and 1 sporadic case with no mutation in NLRP7 PMID: 21623199
30. The presence of NLRP7 mutations was demonstrated in two patients with recurrent spontaneous abortions, and some rare non-synonymous variants (NSVs), present in the general population, were found to be associated with recurrent reproductive wastage. PMID: 21659348
31. previous and current data show the association of NLRP7 mutations with several types of hydatidiform moles and with triploid spontaneous abortions PMID: 21421271
32. genetic analysis of NLRP7 in 2 cases of recurrent complete hydatidiform mole: (1) patient has novel homozygous mutation in exon 8 of NLRP7; (2) patient had androgenetic CHM with no apparent mutations in NLRP7 PMID: 20870286
33. the presence of two founder mutations in the Indian population (mutations have no consequences on male reproduction) PMID: 19650864
34. NMR resonance assignments of the human NLRP7 PMID: 19888692
35. Up-regulation of NALP7 is associated with testicular seminomas PMID: 15596043
36. Stable expression of PYPAF3 (NALP7) abrogated the ability of cells to produce interleukin-1beta in response to lipopolysaccharide. PMID: 15817483
37. Five mutations in the maternal gene NALP7 in individuals with familial and recurrent Hydatidiform mole PMID: 16462743
38. Mutation my be involed in the inflammatory and apoptoic pathways in hydatidiform moles. PMID: 16501554
39. Role of NALP7 in apoptosis and inflammation pinpoints previously unrecognized pathways that could directly or indirectly underlie the abnormal methylation of imprinted genes in hydatidiform moles tissues. PMID: 16874523
40. study reports a first stop codon, c.295G>T (p.Glu99X) and a missense mutation, c.1970A>T (p.Asp657Val) in NLRP7 in two sisters with familial recurrent hydatidiform moles PMID: 17579354
41. Our findings firmly establish that NLRP7 mutations are a major cause of biparental hydatidiform moles and confirm presence of a complex pattern of imprinting abnormalities in BiHM tissues. PMID: 18039680
42. NLRP7 expression was positive in cancer cells in 7 cases. There was a statistical relationship between the depth of tumor invasion and NLRP7 expression. NLRP7 expression showed a trend for being associated with poor prognosis. PMID: 18751440
43. Ten new mutations in NLRP7 are responsible for several types of hydatidiform moles. PMID: 19066229
44. Screened a large series of women with familial recurrent hydatidiform mole. 16 different mutations were identified in the study, 13 of which were novel. PMID: 19246479

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HGNC: 22947

OMIM: 231090

KEGG: hsa:199713

UniGene: Hs.351118