Literature DB >> 18329128

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.

Thomas Eggermann1, Katja Eggermann, Nadine Schönherr.   

Abstract

Human growth is a complex process that requires the appropriate interaction of many players. Central members in the growth pathways are regulated epigenetically and thereby reflect the profound significance of imprinting for correct mammalian ontogenesis. In this review, we show that the growth retardation disorder Silver-Russell syndrome (SRS) is a suitable model to decipher the role of imprinting in growth. As we will show, SRS should not only be regarded as the genetically (and clinically) opposite disease to Beckwith-Wiedemann syndrome, but it also represents the first human disorder with imprinting disturbances that affect two different chromosomes (i.e. chromosomes 7 and 11). Thus, a functional interaction between factors encoded by chromosomes 7 and 11 is likely.

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Year:  2008        PMID: 18329128     DOI: 10.1016/j.tig.2008.01.003

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  32 in total

Review 1.  Higher-order genome organization in human disease.

Authors:  Tom Misteli
Journal:  Cold Spring Harb Perspect Biol       Date:  2010-06-30       Impact factor: 10.005

2.  Clinical utility gene card for: Silver-Russell syndrome.

Authors:  Thomas Eggermann; Karin Buiting; I Karen Temple
Journal:  Eur J Hum Genet       Date:  2010-12-08       Impact factor: 4.246

3.  First principles of Hamiltonian medicine.

Authors:  Bernard Crespi; Kevin Foster; Francisco Úbeda
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2014-03-31       Impact factor: 6.237

Review 4.  The evolutionary biology of child health.

Authors:  Bernard Crespi
Journal:  Proc Biol Sci       Date:  2011-02-02       Impact factor: 5.349

Review 5.  Child health, developmental plasticity, and epigenetic programming.

Authors:  Z Hochberg; R Feil; M Constancia; M Fraga; C Junien; J-C Carel; P Boileau; Y Le Bouc; C L Deal; K Lillycrop; R Scharfmann; A Sheppard; M Skinner; M Szyf; R A Waterland; D J Waxman; E Whitelaw; K Ong; K Albertsson-Wikland
Journal:  Endocr Rev       Date:  2010-10-22       Impact factor: 19.871

Review 6.  Maternal-fetal conflict, genomic imprinting and mammalian vulnerabilities to cancer.

Authors:  David Haig
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2015-07-19       Impact factor: 6.237

7.  Opposite risk patterns for autism and schizophrenia are associated with normal variation in birth size: phenotypic support for hypothesized diametric gene-dosage effects.

Authors:  Sean G Byars; Stephen C Stearns; Jacobus J Boomsma
Journal:  Proc Biol Sci       Date:  2014-11-07       Impact factor: 5.349

Review 8.  Imprinting evolution and human health.

Authors:  Radhika Das; Daniel D Hampton; Randy L Jirtle
Journal:  Mamm Genome       Date:  2009-10-15       Impact factor: 2.957

9.  Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

Authors:  K Yamazawa; K Nakabayashi; M Kagami; T Sato; S Saitoh; R Horikawa; N Hizuka; T Ogata
Journal:  J Med Genet       Date:  2010-08-03       Impact factor: 6.318

10.  No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation.

Authors:  Jeremiah Bernier-Latmani; Alessandra Baumer; Phillip Shaw
Journal:  PLoS One       Date:  2009-08-13       Impact factor: 3.240

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