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    NLRP7 NLR family pyrin domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 199713, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    HLA-C expression in extravillous trophoblasts is determined by an ELF3-NLRP2/NLRP7 regulatory axis.

    HLA-C expression in extravillous trophoblasts is determined by an ELF3-NLRP2/NLRP7 regulatory axis.
    Gu B, Le GH, Herrera S, Blair SJ, Meissner TB, Strominger JL., Free PMC Article

    07/26/2024
    Gene body hypomethylation of pyroptosis-related genes NLRP7, NLRP2, and NLRP3 facilitate non-invasive surveillance of hepatocellular carcinoma.

    Gene body hypomethylation of pyroptosis-related genes NLRP7, NLRP2, and NLRP3 facilitate non-invasive surveillance of hepatocellular carcinoma.
    Zhang H, Dong P, Fan H, Liang H, Zhang K, Zhao Y, Guo S, Schrodi SJ, Fan Y, Zhang D.

    06/13/2023
    NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.

    NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.
    Han J, Zhang N, Cao Q, Shi X, Wang C, Rui X, Ding J, Zhao C, Zhang J, Ling X, Li H, Guan Y, Meng Q, Huo R.

    06/7/2023
    NLRP7 Enhances Choriocarcinoma Cell Survival and Camouflage in an Inflammasome Independent Pathway.

    NLRP7 Enhances Choriocarcinoma Cell Survival and Camouflage in an Inflammasome Independent Pathway.
    Reynaud D, Alfaidy N, Collet C, Lemaitre N, Sergent F, Miege C, Soleilhac E, Assi AA, Murthi P, Courtois G, Fauvarque MO, Slim R, Benharouga M, Abi Nahed R., Free PMC Article

    04/5/2023
    Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.

    Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.
    Tao C, Zhu T, Tang S, Lu J, Lin X, Li X, Liu X, Pang Y, Zhao H, Liang J, Zhang F, Lu X, Zhang L.

    03/9/2023
    Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.

    Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
    Slim R, Fisher R, Milhavet F, Hemida R, Rojas S, Rittore C, Bagga R, Aguinaga M, Touitou I.

    12/17/2022
    [Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].

    [Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].
    Shen J, Gao Y, Wu W, Liu J, Sun X, Peng Y, Xie J, Wang D, Cui Y, Liu J, Diao F.

    10/15/2022
    Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants.

    Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants.
    Wang RY, Li YJ, Zhen L, Jiang F, Gu CM, Li DZ.

    06/11/2022
    NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.

    NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.
    Sazhenova EA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Vasilyeva OY, Markov AV, Yuryev SY, Skryabin NA, Zarubin AA, Kolesnikov NA, Stepanov VA, Lebedev IN., Free PMC Article

    03/5/2022
    Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.

    Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
    Rezaei M, Suresh B, Bereke E, Hadipour Z, Aguinaga M, Qian J, Bagga R, Fardaei M, Hemida R, Jagadeesh S, Majewski J, Slim R.

    02/19/2022
    The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

    The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.
    Aguinaga M, Rezaei M, Monroy I, Mechtouf N, Pérez J, Moreno E, Valdespino Y, Galaz C, Razo G, Medina D, Piña R, Slim R., Free PMC Article

    01/1/2022
    NLRP7 deubiquitination by USP10 promotes tumor progression and tumor-associated macrophage polarization in colorectal cancer.

    NLRP7 deubiquitination by USP10 promotes tumor progression and tumor-associated macrophage polarization in colorectal cancer.
    Li B, Qi ZP, He DL, Chen ZH, Liu JY, Wong MW, Zhang JW, Xu EP, Shi Q, Cai SL, Sun D, Yao LQ, Zhou PH, Zhong YS., Free PMC Article

    11/22/2021
    Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.

    Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.
    Cozette C, Scheffler F, Lombart M, Massardier J, Bolze PA, Hajri T, Golfier F, Touitou I, Rittore C, Gondry J, Merviel P, Benkhalifa M, Cabry R., Free PMC Article

    05/29/2021
    NLRP7 plays a functional role in regulating BMP4 signaling during differentiation of patient-derived trophoblasts.

    NLRP7 plays a functional role in regulating BMP4 signaling during differentiation of patient-derived trophoblasts.
    Alici-Garipcan A, Özçimen B, Süder I, Ülker V, Önder TT, Özören N., Free PMC Article

    04/17/2021
    Abnormal processing of IL-1beta in NLRP7-mutated monocytes in hydatidiform mole patients.

    Abnormal processing of IL-1β in NLRP7-mutated monocytes in hydatidiform mole patients.
    Zhang P, Zhu X, Yu X, Huang B, Jiang T, Zhang X, Yang H, Qian J., Free PMC Article

    01/23/2021
    the atypical features of hydatidiform moles from patients with recessive NLRP7 mutations and the important relationship between NLRP7 defects in the oocyte and p57 expression that appear to be the main contributor to the molar phenotype regardless of the zygote genotype

    A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.
    Allias F, Mechtouf N, Gaillot-Durand L, Hoffner L, Hajri T, Devouassoux-Shisheboran M, Massardier J, Golfier F, Bolze PA, Surti U, Slim R.

    08/1/2020
    NLRP7 inflammasome is abundantly expressed by trophoblast cells. It is regulated by a key parameter of placental development, hypoxia. It controls trophoblast proliferation, migration, and invasion and exhibits anti-apoptotic role. NLRP7 machinery is deregulated in fetal growth restriction pregnancies.

    NLRP7 is increased in human idiopathic fetal growth restriction and plays a critical role in trophoblast differentiation.
    Abi Nahed R, Reynaud D, Borg AJ, Traboulsi W, Wetzel A, Sapin V, Brouillet S, Dieudonné MN, Dakouane-Giudicelli M, Benharouga M, Murthi P, Alfaidy N.

    06/6/2020
    NLRP7 is involved in polarization of decidual macrophages.

    NLRP7 Is Involved in the Differentiation of the Decidual Macrophages.
    Tsai PY, Chen KR, Li YC, Kuo PL., Free PMC Article

    04/18/2020
    This study was designed to identify mutations of gene NLRP7 and KHDC3L in biparental complete moles.

    NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.
    Ji M, Shi X, Xiang Y, Cui Q, Zhao J.

    11/2/2019
    We now report 15 further pedigrees in which offspring had disturbance of imprinting, while their mothers had rare, predicted-deleterious variants in maternal effect genes, including NLRP2, NLRP7 and PADI6

    Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
    Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG., Free PMC Article

    10/5/2019
    all products of conception from patients with at least two hydatidiform moles and recessive mutations in NLRP7 or KHDC3L are diploid biparental, while those from patients without mutations are highly heterogeneous and only a minority of them are diploid biparental

    The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
    Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R.

    06/15/2019
    We demonstrated that PADI6 co-localizes with NLRP7 in human oocytes and preimplantation embryos and reviewed the morphology and genotypes of four products of conception from our patient

    Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.
    Qian J, Nguyen NMP, Rezaei M, Huang B, Tao Y, Zhang X, Cheng Q, Yang H, Asangla A, Majewski J, Slim R., Free PMC Article

    02/23/2019
    Targeting the deubiquitinase STAMBP inhibits NALP7 inflammasome activity.

    Targeting the deubiquitinase STAMBP inhibits NALP7 inflammasome activity.
    Bednash JS, Weathington N, Londino J, Rojas M, Gulick DL, Fort R, Han S, McKelvey AC, Chen BB, Mallampalli RK., Free PMC Article

    11/17/2018
    we propose that rare coding variants in NLRP7 may contribute to the development of IBD.

    Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis.
    Onoufriadis A, Stone K, Katsiamides A, Amar A, Omar Y, de Lange KM, Taylor K, Barrett JC, Pollok R, Hayee B, Mansfield JC, Sanderson JD, Simpson MA, Mathew CG, Prescott NJ., Free PMC Article

    09/15/2018
    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.

    NLRP genes and their role in preeclampsia and multi-locus imprinting disorders.
    Soellner L, Kopp KM, Mütze S, Meyer R, Begemann M, Rudnik S, Rath W, Eggermann T, Zerres K.

    09/1/2018
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