Literature DB >> 12915455

Perturbations of chromatin structure in human genetic disease: recent advances.

Wendy A Bickmore1, Silvere M van der Maarel.   

Abstract

Gene expression studies in mammals and simpler eukaryotes have highlighted the central role that chromatin structure and modifications play in both the activation and repression of transcription. Aberrant chromatin structure can cause human genetic disease. Here we discuss recent progress in understanding the molecular mechanisms that underlie three human genetic diseases linked to perturbations of chromatin structure: ICF syndrome, facioscapulohumeral muscular dystrophy and a case of alpha-thalassaemia.

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Year:  2003        PMID： 12915455     DOI： 10.1093/hmg/ddg260

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  22 in total

1.  Nucleosome recognition by the Piccolo NuA4 histone acetyltransferase complex.

Authors:  Christopher E Berndsen; William Selleck; Steven J McBryant; Jeffrey C Hansen; Song Tan; John M Denu
Journal:  Biochemistry       Date:  2007-02-03       Impact factor: 3.162

2.  The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density.

Authors:  Concetta Federico; Catia Daniela Cantarella; Patrizia Di Mare; Sabrina Tosi; Salvatore Saccone
Journal:  Chromosoma       Date:  2008-04-17       Impact factor: 4.316

Review 3.  Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.

Authors:  Charis L Himeda; Takako I Jones; Peter L Jones
Journal:  Antioxid Redox Signal       Date:  2014-12-04       Impact factor: 8.401

Review 4.  The Bucentaur (BCNT) protein family: a long-neglected class of essential proteins required for chromatin/chromosome organization and function.

Authors:  Giovanni Messina; Emanuele Celauro; Maria Teresa Atterrato; Ennio Giordano; Shintaro Iwashita; Patrizio Dimitri
Journal:  Chromosoma       Date:  2014-12-31       Impact factor: 4.316

5.  Genomic properties of chromosomal bands are linked to evolutionary rearrangements and new centromere formation in primates.

Authors:  Concetta Federico; Anna Maria Pappalardo; Venera Ferrito; Sabrina Tosi; Salvatore Saccone
Journal:  Chromosome Res       Date:  2017-07-17       Impact factor: 5.239

Review 6.  Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Authors:  Mark Richards; Frédérique Coppée; Nick Thomas; Alexandra Belayew; Meena Upadhyaya
Journal:  Hum Genet       Date:  2011-10-09       Impact factor: 4.132

7.  Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Authors:  Gopalrao V N Velagaleti; Gabriel A Bien-Willner; Jill K Northup; Lillian H Lockhart; Judy C Hawkins; Syed M Jalal; Marjorie Withers; James R Lupski; Pawel Stankiewicz
Journal:  Am J Hum Genet       Date:  2005-02-22       Impact factor: 11.025

8.  Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome.

Authors:  Andrew Jefferson; Stefano Colella; Daniela Moralli; Natalie Wilson; Mohammed Yusuf; Giorgio Gimelli; Jiannis Ragoussis; Emanuela V Volpi
Journal:  PLoS One       Date:  2010-06-29       Impact factor: 3.240

9.  From silencing to gene expression: real-time analysis in single cells.

Authors:  Susan M Janicki; Toshiro Tsukamoto; Simone E Salghetti; William P Tansey; Ravi Sachidanandam; Kannanganattu V Prasanth; Thomas Ried; Yaron Shav-Tal; Edouard Bertrand; Robert H Singer; David L Spector
Journal:  Cell       Date:  2004-03-05       Impact factor: 41.582

10.  Gene clusters, molecular evolution and disease: a speculation.

Authors:  Leah I Elizondo; Paymaan Jafar-Nejad; J Marietta Clewing; Cornelius F Boerkoel
Journal:  Curr Genomics       Date:  2009-03       Impact factor: 2.236
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