Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Moreover, administration of the exon 11 ASO reduced lamin A expression in wild-type mice and progerin expression in an HGPS mouse model. 26999604

2016

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Progerin is a mutant form of lamin A responsible for Hutchinson-Gilford progeria syndrome (HGPS), a premature aging disorder characterized by excessive atherosclerosis and vascular calcification that leads to premature death, predominantly of myocardial infarction or stroke. 23690466

2013

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Pathological features in the LmnaDhe/+ mutant mouse provide a novel model of human otitis media and laminopathies. 22819531

2012

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Lamin A (LMNA) is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350) and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670). 21464947

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Mutant mice carrying the equivalent mutation in the LMNA gene (c.1827C>T) also accumulate progerin and phenocopy the main cellular alterations and clinical defects of HGPS patients. 21875900

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD However, none of these earlier works have addressed the aberrant and pathogenic LMNA splicing observed in HGPS patients because of the lack of an appropriate mouse model. 22030750

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies. 20376364

2010

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Increasing the length of progerin's isoprenyl anchor does not worsen bone disease or survival in mice with Hutchinson-Gilford progeria syndrome. 18757838

2009

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated. 18769635

2008

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. 16862216

2006

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD The mutant prelamin A in HGPS, which is commonly called progerin, retains the CAAX motif that triggers farnesylation, but the 50-aa deletion prevents the subsequent processing to mature lamin A. 16014412

2005

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD A progeroid syndrome in mice is caused by defects in A-type lamins. 12748643

2003