Literature DB >> 17999889

Progeria: a laminopathy of special interest.

Irena Hausmanowa-Petrusewicz1.   

Abstract

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Year:  2007        PMID： 17999889     DOI： 10.1007/s11910-007-0069-4

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN： 1528-4042            Impact factor:   5.081


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  8 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.  Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

Authors:  S Shackleton; D T Smallwood; P Clayton; L C Wilson; A K Agarwal; A Garg; R C Trembath
Journal:  J Med Genet       Date:  2005-06       Impact factor: 6.318

3.  Workshop on the nuclear envelope and Emery-Dreifuss muscular dystrophy 29th March 2006, Oswestry, UK.

Authors:  K Natalie Randles; Glenn E Morris
Journal:  Neuromuscul Disord       Date:  2006-09-01       Impact factor: 4.296

4.  Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Authors:  Maria Eriksson; W Ted Brown; Leslie B Gordon; Michael W Glynn; Joel Singer; Laura Scott; Michael R Erdos; Christiane M Robbins; Tracy Y Moses; Peter Berglund; Amalia Dutra; Evgenia Pak; Sandra Durkin; Antonei B Csoka; Michael Boehnke; Thomas W Glover; Francis S Collins
Journal:  Nature       Date:  2003-04-25       Impact factor: 49.962

5.  p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Authors:  Janbernd Kirschner; Thomas Brune; Manfred Wehnert; Jonas Denecke; Christina Wasner; Anja Feuer; Thorsten Marquardt; Uwe-Peter Ketelsen; Peter Wieacker; Carsten G Bönnemann; Rudolf Korinthenberg
Journal:  Ann Neurol       Date:  2005-01       Impact factor: 10.422

6.  Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Authors:  Claire L Navarro; Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Irène Boccaccio; Amandine Boyer; David Geneviève; Smail Hadj-Rabia; Caroline Gaudy-Marqueste; Henk Sillevis Smitt; Pierre Vabres; Laurence Faivre; Alain Verloes; Ton Van Essen; Elisabeth Flori; Raoul Hennekam; Frits A Beemer; Nicole Laurent; Martine Le Merrer; Pierre Cau; Nicolas Lévy
Journal:  Hum Mol Genet       Date:  2004-08-18       Impact factor: 6.150

7.  Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

Authors:  Anil K Agarwal; Jean-Pierre Fryns; Richard J Auchus; Abhimanyu Garg
Journal:  Hum Mol Genet       Date:  2003-08-15       Impact factor: 6.150

8.  Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.

Authors:  Robert D Goldman; Dale K Shumaker; Michael R Erdos; Maria Eriksson; Anne E Goldman; Leslie B Gordon; Yosef Gruenbaum; Satya Khuon; Melissa Mendez; Renée Varga; Francis S Collins
Journal:  Proc Natl Acad Sci U S A       Date:  2004-06-07       Impact factor: 11.205
  8 in total

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