Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.G487E
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NLRP7

NM_001127255.2:p.G487E

Associated Papers

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.

Anvar Z et al.

Genes, 2021

NLRP7: From inflammasome regulation to human disease.

Carriere J et al.

Immunology, 2021

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

Pyoderma gangrenosum, acne, and suppurative hidradenitis syndrome in end-stage renal disease successfully treated with adalimumab.

De Wet J et al.

Dermatology Online Journal, 2017

No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.

Aghajanova L et al.

Human Reproduction (oxford, England), 2015

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Nguyen NM et al.

Journal of Medical Genetics, 2014

No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.

Mahadevan S et al.

Prenatal Diagnosis, 2013

NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.

Landolsi H et al.

Archives of Pathology & Laboratory Medicine, 2012

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.

Dixon PH et al.

Journal of Medical Genetics, 2012

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal.

Slim R et al.

Molecular Human Reproduction, 2012

NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center.

Messaed C et al.

The Journal of Biological Chemistry, 2011

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes.

Qian J et al.

Molecular Human Reproduction, 2011

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.

Messaed C et al.

Journal of Medical Genetics, 2011

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

Deveault C et al.

Human Molecular Genetics, 2009

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