Variant: rs11575937 

    present in Gene: LMNA
    present in Chromosome: 1
    Position on Chromosome: 156136985
    Alleles of this Variant: G/A;T

rs11575937 in LMNA gene and Familial Partial Lipodystrophy, Type 2 PMID 19220582 2009 The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 12196663 2002 Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.

PMID 17250669 2007 Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 10739751 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

PMID 24485160 2014 LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.

PMID 12629077 2003 A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

rs11575937 in LMNA gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

PMID 20130076 2010 LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.

rs11575937 in LMNA gene and Hyperglycemia PMID 10739751 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

PMID 16364671 2006 Laminopathies: multisystem dystrophy syndromes.

PMID 10868844 2000 Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.

PMID 10999845 2000 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

PMID 23853504 2013 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

PMID 22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

PMID 16415042 2006 Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.

PMID 2007407 1991 Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase.

rs11575937 in LMNA gene and Monogenic diabetes PMID 16415042 2006 Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.

PMID 16364671 2006 Laminopathies: multisystem dystrophy syndromes.

PMID 10868844 2000 Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.

PMID 10739751 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

PMID 23853504 2013 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

PMID 19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

PMID 2007407 1991 Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase.

PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

PMID 10999845 2000 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.