Literature DB >> 25001217

Trapping MBD5 to understand 2q23.1 microdeletion syndrome.

Deborah Y Kwon1, Zhaolan Zhou1.   

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Year:  2014        PMID： 25001217      PMCID： PMC4154127          DOI： 10.15252/emmm.201404324

Source DB:  PubMed          Journal:  EMBO Mol Med        ISSN： 1757-4676            Impact factor:   12.137


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  10 in total

Review 1.  Genomic DNA methylation: the mark and its mediators.

Authors:  Robert J Klose; Adrian P Bird
Journal:  Trends Biochem Sci       Date:  2006-01-05       Impact factor: 13.807

2.  Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Authors:  Michael E Talkowski; Sureni V Mullegama; Jill A Rosenfeld; Bregje W M van Bon; Yiping Shen; Elena A Repnikova; Julie Gastier-Foster; Devon Lamb Thrush; Sekar Kathiresan; Douglas M Ruderfer; Colby Chiang; Carrie Hanscom; Carl Ernst; Amelia M Lindgren; Cynthia C Morton; Yu An; Caroline Astbury; Louise A Brueton; Klaske D Lichtenbelt; Lesley C Ades; Marco Fichera; Corrado Romano; Jeffrey W Innis; Charles A Williams; Dennis Bartholomew; Margot I Van Allen; Aditi Parikh; Lilei Zhang; Bai-Lin Wu; Robert E Pyatt; Stuart Schwartz; Lisa G Shaffer; Bert B A de Vries; James F Gusella; Sarah H Elsea
Journal:  Am J Hum Genet       Date:  2011-10-07       Impact factor: 11.025

Review 3.  The story of Rett syndrome: from clinic to neurobiology.

Authors:  Maria Chahrour; Huda Y Zoghbi
Journal:  Neuron       Date:  2007-11-08       Impact factor: 17.173

4.  Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Authors:  Stephen R Williams; Sureni V Mullegama; Jill A Rosenfeld; Aditi I Dagli; Eli Hatchwell; William P Allen; Charles A Williams; Sarah H Elsea
Journal:  Eur J Hum Genet       Date:  2009-11-11       Impact factor: 4.246

5.  Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Authors:  Sureni V Mullegama; Jill A Rosenfeld; Carmen Orellana; Bregje W M van Bon; Sara Halbach; Elena A Repnikova; Lauren Brick; Chumei Li; Lucie Dupuis; Monica Rosello; Swaroop Aradhya; D James Stavropoulos; Kandamurugu Manickam; Elyse Mitchell; Jennelle C Hodge; Michael E Talkowski; James F Gusella; Kory Keller; Jonathan Zonana; Stuart Schwartz; Robert E Pyatt; Darrel J Waggoner; Lisa G Shaffer; Angela E Lin; Bert B A de Vries; Roberto Mendoza-Londono; Sarah H Elsea
Journal:  Eur J Hum Genet       Date:  2013-05-01       Impact factor: 4.246

6.  The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Authors:  Bregje W M van Bon; David A Koolen; Louise Brueton; Dominic McMullan; Klaske D Lichtenbelt; Lesley C Adès; Gregory Peters; Kate Gibson; Susan Moloney; Francesca Novara; Tiziano Pramparo; Bernardo Dalla Bernardina; Leonardo Zoccante; Umberto Balottin; Fausta Piazza; Vanna Pecile; Paolo Gasparini; Veronica Guerci; Marleen Kets; Rolph Pfundt; Arjan P de Brouwer; Joris A Veltman; Nicole de Leeuw; Meredith Wilson; Jayne Antony; Santina Reitano; Daniela Luciano; Marco Fichera; Corrado Romano; Han G Brunner; Orsetta Zuffardi; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2009-10-07       Impact factor: 4.246

7.  The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.

Authors:  Sophie Laget; Michael Joulie; Florent Le Masson; Nobuhiro Sasai; Elisabeth Christians; Sriharsa Pradhan; Richard J Roberts; Pierre-Antoine Defossez
Journal:  PLoS One       Date:  2010-08-06       Impact factor: 3.240

8.  Structural and histone binding ability characterizations of human PWWP domains.

Authors:  Hong Wu; Hong Zeng; Robert Lam; Wolfram Tempel; Maria F Amaya; Chao Xu; Ludmila Dombrovski; Wei Qiu; Yanming Wang; Jinrong Min
Journal:  PLoS One       Date:  2011-06-20       Impact factor: 3.240

9.  The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice.

Authors:  Yarui Du; Bo Liu; Fan Guo; Guifang Xu; Yuqiang Ding; Yong Liu; Xin Sun; Guoliang Xu
Journal:  PLoS One       Date:  2012-10-15       Impact factor: 3.240

10.  Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.

Authors:  Vladimir Camarena; Lei Cao; Clemer Abad; Alexander Abrams; Yaima Toledo; Kimi Araki; Masatake Araki; Katherina Walz; Juan I Young
Journal:  EMBO Mol Med       Date:  2014-08       Impact factor: 12.137
  10 in total
  2 in total

1.  A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.

Authors:  Syuan-Yu Hong; I-Ching Chou; Wei-De Lin; Fuu-Jen Tsai
Journal:  Biomedicine (Taipei)       Date:  2016-11-19

2.  Genome-wide association analysis and functional annotation of positional candidate genes for feed conversion efficiency and growth rate in pigs.

Authors:  Justyna Horodyska; Ruth M Hamill; Patrick F Varley; Henry Reyer; Klaus Wimmers
Journal:  PLoS One       Date:  2017-06-12       Impact factor: 3.240
  2 in total

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