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NLRP5 gene

Known as: NLR family, pyrin domain containing 5, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5, PYPAF8 
National Institutes of Health

Papers overview

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2020
2020
A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family
Early embryonic arrest is one of the major causes of recurrent assisted reproduction failure. It is characterized by delayed… 
2019
2019
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
A subset of individuals affected by imprinting disorders displays multi-locus imprinting disturbances (MLID). MLID has been… 
Highly Cited
2018
Highly Cited
2018
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
Background Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the early embryo for a… 
Review
2017
Review
2017
NLRPs, the subcortical maternal complex and genomic imprinting.
Before activation of the embryonic genome, the oocyte provides many of the RNAs and proteins required for the epigenetic… 
2015
2015
Follicular progesterone concentrations and messenger RNA expression of MATER and OCT-4 in immature bovine oocytes as predictors of developmental competence.
2014
2014
Prevalence and clinical associations of calcium-sensing receptor and NALP5 autoantibodies in Finnish APECED patients.
CONTEXT Previous studies have identified the calcium-sensing receptor (CaSR) and NALP5 as parathyroid autoantibody targets in… 
Highly Cited
2012
Highly Cited
2012
NLRP5 Mediates Mitochondrial Function in Mouse Oocytes and Embryos1
ABSTRACT Unraveling molecular pathways responsible for regulation of early embryonic development is crucial for our understanding… 
2009
2009
MATER protein as substrate of PKCepsilon in human cumulus cells.
High activity of the phosphoinositide 3-kinase/Akt pathway in cumulus cells plays an important role in FSH regulation of cell… 
2009
2009
Maternal depletion of NLRP5 blocks early embryogenesis in rhesus macaque monkeys (Macaca mulatta).
BACKGROUND Genetic defects in the oocyte can lead to female infertility due to failures in early embryogenesis. NLRP5 (NLR family… 
Highly Cited
2006
Highly Cited
2006
MATER protein expression and intracellular localization throughout folliculogenesis and preimplantation embryo development in the bovine
BackgroundMater (Maternal Antigen that Embryos Require), also known as Nalp5 (NACHT, leucine rich repeat and PYD containing 5… 
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