Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). - Test2 - elhamkhani - TriplyDB

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

http://www.wikidata.org/entity/Q33419813

about

NOD-Like Receptors in Infection, Immunity, and Diseases New insights into establishment and maintenance of DNA methylation imprints in mammals The specification of imprints in mammals Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming.Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families Mammalian genomic imprinting.Comparison of discriminatory power and accuracy of three lung cancer risk models.Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.Nlrp2, a maternal effect gene required for early embryonic development in the mouse NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly Pre- and postovulatory aging of murine oocytes affect the transcript level and poly(A) tail length of maternal effect genes.Epigenetic and genetic diagnosis of Silver-Russell syndrome.Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations Inflammasomes and their activation.Dppa3 expression is critical for generation of fully reprogrammed iPS cells and maintenance of Dlk1-Dio3 imprinting.Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants Genes and Conditions Controlling Mammalian Pre- and Post-implantation Embryo Development.No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome Granulosa cell-derived induced pluripotent stem cells exhibit pro-trophoblastic differentiation potential.The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction.NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16.Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.New developments in Silver-Russell syndrome and implications for clinical practice NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges.Unsolved Mysteries in NLR Biology.DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Brachydactyly E: isolated or as a feature of a syndrome NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation.

P2860

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P2860

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

http://www.wikidata.org/entity/Q33419813

description

2009 nî lūn-bûn

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2009 թուականի Մարտին հրատարակուած գիտական յօդուած

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2009 թվականի մարտին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Germline mutation in NLRP2 (NA ...... (Beckwith-Wiedemann Syndrome).

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Germline mutation in NLRP2 (NA ...... (Beckwith-Wiedemann Syndrome).

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type

label

Germline mutation in NLRP2 (NA ...... (Beckwith-Wiedemann Syndrome).

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Germline mutation in NLRP2 (NA ...... (Beckwith-Wiedemann Syndrome).

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prefLabel

Germline mutation in NLRP2 (NA ...... (Beckwith-Wiedemann Syndrome).

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Germline mutation in NLRP2 (NA ...... (Beckwith-Wiedemann Syndrome).

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JOURNAL.PGEN.1000423

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Germline mutation in NLRP2 (NA ...... (Beckwith-Wiedemann Syndrome).

@en

P2093

C Geoffrey Woods

http://www.w3.org/2001/XMLSchema#string

Derek Lim

http://www.w3.org/2001/XMLSchema#string

Esther Meyer

http://www.w3.org/2001/XMLSchema#string

Fatimah Rahman

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John R W Yates

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Louise J Tee

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Shanaz Pasha

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P2860

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

Mutations in NALP12 cause hereditary periodic fever syndromes

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints

In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene

Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

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e1000423

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10.1371/JOURNAL.PGEN.1000423

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24214230

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19300480

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