Literature DB >> 26290387

Skin Disease in Laminopathy-Associated Premature Aging.

Tomás McKenna1, Agustín Sola Carvajal1, Maria Eriksson2.   

Abstract

The nuclear lamina, a protein network located under the nuclear membrane, has during the past decade found increasing interest due to its significant involvement in a range of genetic diseases, including the segmental premature aging syndromes Hutchinson-Gilford progeria syndrome, restrictive dermopathy, and atypical Werner syndrome. In this review we examine these diseases, some caused by mutations in the LMNA gene, and their skin disease features. Advances within this area might also provide novel insights into the biology of skin aging, as recent data suggest that low levels of progerin are expressed in unaffected individuals and these levels increase with aging.

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Year:  2015        PMID: 26290387     DOI: 10.1038/jid.2015.295

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  71 in total

1.  Lamin a truncation in Hutchinson-Gilford progeria.

Authors:  Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Pierre Cau; Claire Navarro; Jeanne Amiel; Irène Boccaccio; Stanislas Lyonnet; Colin L Stewart; Arnold Munnich; Martine Le Merrer; Nicolas Lévy
Journal:  Science       Date:  2003-04-17       Impact factor: 47.728

2.  Clinical utility gene card for: Werner syndrome.

Authors:  Fuki M Hisama; Christian Kubisch; George M Martin; Junko Oshima
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

3.  Nuclear lamin-A scales with tissue stiffness and enhances matrix-directed differentiation.

Authors:  Joe Swift; Irena L Ivanovska; Amnon Buxboim; Takamasa Harada; P C Dave P Dingal; Joel Pinter; J David Pajerowski; Kyle R Spinler; Jae-Won Shin; Manorama Tewari; Florian Rehfeldt; David W Speicher; Dennis E Discher
Journal:  Science       Date:  2013-08-30       Impact factor: 47.728

4.  LMNA mutation position predicts organ system involvement in laminopathies.

Authors:  Ra Hegele
Journal:  Clin Genet       Date:  2005-07       Impact factor: 4.438

5.  Progressive early dermatologic changes in Hutchinson-Gilford progeria syndrome.

Authors:  P J Gillar; C I Kaye; J W McCourt
Journal:  Pediatr Dermatol       Date:  1991-09       Impact factor: 1.588

6.  Stem cell depletion in Hutchinson-Gilford progeria syndrome.

Authors:  Ylva Rosengardten; Tomás McKenna; Diana Grochová; Maria Eriksson
Journal:  Aging Cell       Date:  2011-10-11       Impact factor: 9.304

7.  Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis.

Authors:  Joanna M Bridger; Ian R Kill
Journal:  Exp Gerontol       Date:  2004-05       Impact factor: 4.032

8.  Lamin B1 fluctuations have differential effects on cellular proliferation and senescence.

Authors:  Oliver Dreesen; Alexandre Chojnowski; Peh Fern Ong; Tian Yun Zhao; John E Common; Declan Lunny; E Birgitte Lane; Shu Jin Lee; Leah A Vardy; Colin L Stewart; Alan Colman
Journal:  J Cell Biol       Date:  2013-02-25       Impact factor: 10.539

9.  Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study.

Authors:  R A Röber; K Weber; M Osborn
Journal:  Development       Date:  1989-02       Impact factor: 6.868

10.  Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development.

Authors:  Tomás McKenna; Ylva Rosengardten; Nikenza Viceconte; Jean-Ha Baek; Diana Grochová; Maria Eriksson
Journal:  Aging Cell       Date:  2014-01-24       Impact factor: 9.304

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  3 in total

Review 1.  The role of epigenetics in renal ageing.

Authors:  Paul G Shiels; Dagmara McGuinness; Maria Eriksson; Jeroen P Kooman; Peter Stenvinkel
Journal:  Nat Rev Nephrol       Date:  2017-06-19       Impact factor: 28.314

2.  Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type.

Authors:  Irene Franco; Hafdis T Helgadottir; Aldo Moggio; Malin Larsson; Peter Vrtačnik; Anna Johansson; Nina Norgren; Pär Lundin; David Mas-Ponte; Johan Nordström; Torbjörn Lundgren; Peter Stenvinkel; Lars Wennberg; Fran Supek; Maria Eriksson
Journal:  Genome Biol       Date:  2019-12-18       Impact factor: 13.583

Review 3.  Genomic instability and DNA replication defects in progeroid syndromes.

Authors:  Romina Burla; Mattia La Torre; Chiara Merigliano; Fiammetta Vernì; Isabella Saggio
Journal:  Nucleus       Date:  2018-06-23       Impact factor: 4.197

  3 in total

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