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- W2747256745 endingPage "626" @default.
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- W2747256745 abstract "Epigenetic regulation orchestrates gene expression with exquisite precision, over a huge dynamic range and across developmental space and time, permitting genomically-homogeneous humans to develop and adapt to their surroundings. Every generation, these epigenetic marks are re-set twice: in the germline, to enable differentiation of sperm and eggs, and at fertilisation, to create the totipotent zygote that then begins growth and differentiation into a new human. A small group of genes evades the second, zygotic wave of epigenetic reprogramming, and these genes retain an epigenetic 'imprint' of the parent from whom they were inherited. Imprinted genes are (as a general rule) expressed from one parental allele only. Some imprinted genes are critical regulators of growth and development, and thus disruption of their normal monoallelic expression causes congenital imprinting disorders, with clinical features impacting growth, development, behaviour and metabolism. Imprinting disorders as a group have characteristics that challenge diagnosis and management, including clinical and molecular heterogeneity, overlapping clinical features, somatic mosaicism, and multi-locus involvement. New insights into the biology and epigenomics of the early embryo offers new clues about the origin and importance of imprinting disorders." @default.
- W2747256745 created "2017-08-31" @default.
- W2747256745 creator A5008772405 @default.
- W2747256745 creator A5012217651 @default.
- W2747256745 date "2017-11-01" @default.
- W2747256745 modified "2023-09-25" @default.
- W2747256745 title "Human imprinting disorders: Principles, practice, problems and progress" @default.
- W2747256745 cites W1513297807 @default.
- W2747256745 cites W1965141219 @default.
- W2747256745 cites W1965322071 @default.
- W2747256745 cites W1977061789 @default.
- W2747256745 cites W1981122661 @default.
- W2747256745 cites W1982946759 @default.
- W2747256745 cites W1997866877 @default.
- W2747256745 cites W2000842113 @default.
- W2747256745 cites W2001124300 @default.
- W2747256745 cites W2006603866 @default.
- W2747256745 cites W2007095949 @default.
- W2747256745 cites W2007263599 @default.
- W2747256745 cites W2017766172 @default.
- W2747256745 cites W2019127737 @default.
- W2747256745 cites W2028462657 @default.
- W2747256745 cites W2033128653 @default.
- W2747256745 cites W2035877973 @default.
- W2747256745 cites W2036835673 @default.
- W2747256745 cites W2044282102 @default.
- W2747256745 cites W2047469234 @default.
- W2747256745 cites W2057470220 @default.
- W2747256745 cites W2059906428 @default.
- W2747256745 cites W2063337177 @default.
- W2747256745 cites W2064261172 @default.
- W2747256745 cites W2067181747 @default.
- W2747256745 cites W2069036796 @default.
- W2747256745 cites W2071365780 @default.
- W2747256745 cites W2076154138 @default.
- W2747256745 cites W2085643090 @default.
- W2747256745 cites W2086277161 @default.
- W2747256745 cites W2089536182 @default.
- W2747256745 cites W2093404711 @default.
- W2747256745 cites W2093834342 @default.
- W2747256745 cites W2096391240 @default.
- W2747256745 cites W2098398752 @default.
- W2747256745 cites W2111003908 @default.
- W2747256745 cites W2114210098 @default.
- W2747256745 cites W2117121254 @default.
- W2747256745 cites W2117611273 @default.
- W2747256745 cites W2125522929 @default.
- W2747256745 cites W2125720091 @default.
- W2747256745 cites W2126721293 @default.
- W2747256745 cites W2129908510 @default.
- W2747256745 cites W2130234884 @default.
- W2747256745 cites W2130652821 @default.
- W2747256745 cites W2135937351 @default.
- W2747256745 cites W2139693494 @default.
- W2747256745 cites W2141439405 @default.
- W2747256745 cites W2144022986 @default.
- W2747256745 cites W2145034240 @default.
- W2747256745 cites W2151935916 @default.
- W2747256745 cites W2156431476 @default.
- W2747256745 cites W2157099671 @default.
- W2747256745 cites W2158920055 @default.
- W2747256745 cites W2163592640 @default.
- W2747256745 cites W2163888890 @default.
- W2747256745 cites W2165744063 @default.
- W2747256745 cites W2173045156 @default.
- W2747256745 cites W2218715548 @default.
- W2747256745 cites W2229623083 @default.
- W2747256745 cites W2232856929 @default.
- W2747256745 cites W2268796423 @default.
- W2747256745 cites W2286944220 @default.
- W2747256745 cites W2295037017 @default.
- W2747256745 cites W2342403040 @default.
- W2747256745 cites W2394806265 @default.
- W2747256745 cites W2399878689 @default.
- W2747256745 cites W2399912172 @default.
- W2747256745 cites W2403173295 @default.
- W2747256745 cites W2430846749 @default.
- W2747256745 cites W2507689999 @default.
- W2747256745 cites W2510387549 @default.
- W2747256745 cites W2518658526 @default.
- W2747256745 cites W2519713895 @default.
- W2747256745 cites W2526632574 @default.
- W2747256745 cites W2549509984 @default.
- W2747256745 cites W2554849045 @default.
- W2747256745 cites W2559327025 @default.
- W2747256745 cites W2588601405 @default.
- W2747256745 cites W2601398223 @default.
- W2747256745 cites W2611165465 @default.
- W2747256745 cites W2652018312 @default.
- W2747256745 cites W344456235 @default.
- W2747256745 cites W4211064310 @default.
- W2747256745 cites W4254218046 @default.
- W2747256745 cites W4298178510 @default.
- W2747256745 doi "https://doi.org/10.1016/j.ejmg.2017.08.014" @default.
- W2747256745 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28818477" @default.
- W2747256745 hasPublicationYear "2017" @default.
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