Literature DB >> 28180023

An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.

Daria Grafodatskaya1, Sanaa Choufani2, Raveen Basran3, Rosanna Weksberg4.   

Abstract

Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted genes expression causes various disorders associated with abnormalities of growth, neurodevelopment, and metabolism. Molecular mechanisms leading to imprinting disorders and strategies for their diagnosis are discussed in this review article.

Entities:  

Keywords:  DNA methylation; epigenetics; genomic imprinting

Year:  2016        PMID： 28180023      PMCID： PMC5288000          DOI： 10.1055/s-0036-1593840

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  85 in total

1.  RNAi-mediated allelic trans-interaction at the imprinted Rtl1/Peg11 locus.

Authors:  Erica Davis; Florian Caiment; Xavier Tordoir; Jérôme Cavaillé; Anne Ferguson-Smith; Noelle Cockett; Michel Georges; Carole Charlier
Journal:  Curr Biol       Date:  2005-04-26       Impact factor: 10.834

2.  No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.

Authors:  Susanne E Boonen; Johanne M D Hahnemann; Deborah Mackay; Niels Tommerup; Karen Brøndum-Nielsen; Zeynep Tümer; Karen Grønskov
Journal:  Eur J Hum Genet       Date:  2011-08-24       Impact factor: 4.246

3.  PGC7/Stella protects against DNA demethylation in early embryogenesis.

Authors:  Toshinobu Nakamura; Yoshikazu Arai; Hiroki Umehara; Masaaki Masuhara; Tohru Kimura; Hisaaki Taniguchi; Toshihiro Sekimoto; Masahito Ikawa; Yoshihiro Yoneda; Masaru Okabe; Satoshi Tanaka; Kunio Shiota; Toru Nakano
Journal:  Nat Cell Biol       Date:  2006-12-03       Impact factor: 28.824

4.  The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.

Authors:  S Rossignol; V Steunou; C Chalas; A Kerjean; M Rigolet; E Viegas-Pequignot; P Jouannet; Y Le Bouc; C Gicquel
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

Review 5.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

6.  Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Authors:  Jet Bliek; Gaetano Verde; Jonathan Callaway; Saskia M Maas; Agostina De Crescenzo; Angela Sparago; Flavia Cerrato; Silvia Russo; Serena Ferraiuolo; Maria Michela Rinaldi; Rita Fischetto; Faustina Lalatta; Lucio Giordano; Paola Ferrari; Maria Vittoria Cubellis; Lidia Larizza; I Karen Temple; Marcel M A M Mannens; Deborah J G Mackay; Andrea Riccio
Journal:  Eur J Hum Genet       Date:  2008-12-17       Impact factor: 4.246

7.  Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.

Authors:  Shin-Ichi Horike; Jose Carlos P Ferreira; Makiko Meguro-Horike; Sanaa Choufani; Adam C Smith; Cheryl Shuman; Wendy Meschino; David Chitayat; Elaine Zackai; Stephen W Scherer; Rosanna Weksberg
Journal:  Am J Med Genet A       Date:  2009-11       Impact factor: 2.802

Review 8.  The role of genomic imprinting in biology and disease: an expanding view.

Authors:  Jo Peters
Journal:  Nat Rev Genet       Date:  2014-06-24       Impact factor: 53.242

9.  Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.

Authors:  Louise E Docherty; Faisal I Rezwan; Rebecca L Poole; Hannah Jagoe; Hannah Lake; Gabrielle A Lockett; Hasan Arshad; David I Wilson; John W Holloway; I Karen Temple; Deborah J G Mackay
Journal:  J Med Genet       Date:  2014-02-05       Impact factor: 6.318

10.  A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.

Authors:  Salah Azzi; Jennifer Salem; Nathalie Thibaud; Sandra Chantot-Bastaraud; Eli Lieber; Irène Netchine; Madeleine D Harbison
Journal:  J Med Genet       Date:  2015-05-07       Impact factor: 6.318
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  3 in total

1.  Advances in Pediatric Genetic Testing.

Authors:  Elizabeth McCready
Journal:  J Pediatr Genet       Date:  2017-03

2.  Discovering candidate imprinted genes and imprinting control regions in the human genome.

Authors:  Minou Bina
Journal:  BMC Genomics       Date:  2020-05-31       Impact factor: 3.969

3.  Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

Authors:  Sanaa Choufani; Jung Min Ko; Youliang Lou; Cheryl Shuman; Leona Fishman; Rosanna Weksberg
Journal:  Genes (Basel)       Date:  2021-01-27       Impact factor: 4.096
  3 in total

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