Condition: Progeria


rs113436208 in LMNA gene and Progeria PMID 17469202 2007 Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

PMID 23804595 2013 In contrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary for processing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of Restrictive Dermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria.

PMID 15317753 2004 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

PMID 24639906 2014 Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.

PMID 15622532 2005 p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

PMID 12927431 2003 LMNA mutations in atypical Werner's syndrome.

PMID 22355414 2012 Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.

PMID 23666920 2013 LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.

PMID 15060110 2004 Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.

PMID 12714972 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

PMID 21791255 2012 Here we present a four-year-old HGPS patient who presented several severe strokes and carried a heterozygous LMNA missense mutation in exon 2: p.Glu138Lys.

PMID 15286156 2004 Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.

PMID 19933576 2010 Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

PMID 12768443 2003 LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

PMID 21791255 2012 LMNA mutation in progeroid syndrome in association with strokes.

PMID 23497705 2013 Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.

PMID 12702809 2003 Lamin a truncation in Hutchinson-Gilford progeria.

PMID 17076270 2006 Altered splicing in prelamin A-associated premature aging phenotypes.

PMID 15622532 2005 We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations have been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreifuss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.

PMID 15121795 2004 LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

PMID 23659872 2013 A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.

PMID 24687084 2014 A new lamin a mutation associated with acrogeria syndrome.

PMID 22065502 2011 Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.