Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620671
Title:
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Authors:
Begemann, M. [et al] inc.; Turner, Claire L.
Abstract:
Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the early embryo for a small number of mammalian genes. Genetic, epigenetic or environmental insults that prevent imprints from evading reprogramming may result in imprinting disorders, which impact growth, development, behaviour and metabolism. We aimed to identify genetic defects causing imprinting disorders by whole-exome sequencing in families with one or more members affected by multilocus imprinting disturbance.
Citation:
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. 2018 J. Med. Genet.
Publisher:
BMJ
Journal:
Journal of medical genetics
Issue Date:
24-Mar-2018
URI:
http://hdl.handle.net/11287/620671
DOI:
10.1136/jmedgenet-2017-105190
PubMed ID:
29574422
Additional Links:
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29574422
Type:
Journal Article
Language:
en
ISSN:
1468-6244
Appears in Collections:
Clinical Genetics (Peninsula Genetics); 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorBegemann, M. [et al] inc.en
dc.contributor.authorTurner, Claire L.en
dc.date.accessioned2018-05-03T14:10:45Z-
dc.date.available2018-05-03T14:10:45Z-
dc.date.issued2018-03-24-
dc.identifier.citationMaternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. 2018 J. Med. Genet.en
dc.identifier.issn1468-6244-
dc.identifier.pmid29574422-
dc.identifier.doi10.1136/jmedgenet-2017-105190-
dc.identifier.urihttp://hdl.handle.net/11287/620671-
dc.description.abstractGenomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the early embryo for a small number of mammalian genes. Genetic, epigenetic or environmental insults that prevent imprints from evading reprogramming may result in imprinting disorders, which impact growth, development, behaviour and metabolism. We aimed to identify genetic defects causing imprinting disorders by whole-exome sequencing in families with one or more members affected by multilocus imprinting disturbance.en
dc.language.isoenen
dc.publisherBMJen
dc.relation.urlhttp://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29574422en
dc.rightsArchived with thanks to Journal of medical genetics. This is an Open access article distributed in accordance with the terms of the creative commons attribution (cc BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http:// creativecommons. org/ licenses/ by/ 4. 0/en
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleMaternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.en
dc.typeJournal Articleen
dc.identifier.journalJournal of medical geneticsen
dc.type.versionIn press (epub ahead of print)en

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