Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans is …
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scholarly articleQ13442814

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P819ADS bibcode2015NatCo...6.8086D
P6179Dimensions Publication ID1021836317
P356DOI10.1038/NCOMMS9086
P932PMC publication ID4568303
P698PubMed publication ID26323243
P5875ResearchGate publication ID281519136

P50authorEmma BapleQ84573349
Michal PatalanQ88159857
Jarosław Peregud-PogorzelskiQ114529435
Eamonn R MaherQ56435841
Julian Hamilton-ShieldQ57322767
Maria GiżewskaQ59707733
Deborah Jg MackayQ64502757
Karen TempleQ29643682
Faisal I. RezwanQ47705066
P2093author name stringThomas Eggermann
Jasmin Beygo
Bernhard Horsthemke
Karin Buiting
Sahar Mansour
Sarah F Smithson
Louise E Docherty
Rebecca L Poole
Emma Kivuva
Claire L S Turner
Lukas Soellner
Matthias Begemann
P2860cites workSilver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissuesQ84803524
The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamicsQ48594702
A global disorder of imprinting in the human female germ lineQ48864404
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.Q54595461
A familial disorder of altered DNA-methylationQ57521771
Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted lociQ83654351
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57Q24312925
The specification of imprints in mammalsQ26861311
The Nod-like receptor (NLR) family: a tale of similarities and differencesQ28472636
A subcortical maternal complex essential for preimplantation mouse embryogenesisQ28513732
Mater, a maternal effect gene required for early embryonic development in miceQ28588588
Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genesQ28660776
A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.Q30940148
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).Q33419813
DNA methylation dynamics of the human preimplantation embryoQ34262644
Pre- and postovulatory aging of murine oocytes affect the transcript level and poly(A) tail length of maternal effect genesQ34278441
The role of genomic imprinting in biology and disease: an expanding viewQ34426232
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humansQ34492213
An atypical case of hypomethylation at multiple imprinted lociQ34705172
Maternal depletion of NLRP5 blocks early embryogenesis in rhesus macaque monkeys (Macaca mulatta).Q34894577
Dynamic CpG island methylation landscape in oocytes and preimplantation embryosQ35135165
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyteQ35204932
Imprinting errors and developmental asymmetryQ35213638
Epigenetic disturbances in in vitro cultured gametes and embryos: implications for human assisted reproduction.Q38077361
The road to maturation: somatic cell interaction and self-organization of the mammalian oocyteQ38083528
Identification of a human subcortical maternal complexQ38925169
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.Q46107438
Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform molesQ47864754
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P304page(s)8086
P577publication date2015-09-01
P1433published inNature CommunicationsQ573880
P1476titleMutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
P478volume6

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cites work (P2860)
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