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
about
The nuclear envelopathies and human diseasesMany roads lead to a broken heart: the genetics of dilated cardiomyopathy.Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/COverlapping syndromes in laminopathies: a meta-analysis of the reported literatureThe nuclear lamina is mechano-responsive to ECM elasticity in mature tissueStructure of the globular tail of nuclear laminStructure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD)The nuclear envelope in muscular dystrophy and cardiovascular diseasesLife at the edge: the nuclear envelope and human diseaseInherited conduction system abnormalities--one group of diseases, many genesLaminopathies and the long strange trip from basic cell biology to therapyFitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girlDiseases of the nuclear envelope.LMNA mutations, skeletal muscle lipid metabolism, and insulin resistanceA Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features."Laminopathies": a wide spectrum of human diseases.Inner nuclear membrane proteins: impact on human disease.Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.Lipodystrophy syndromesThe human obesity gene map: the 2002 update.Nuclear envelope proteins and neuromuscular diseases.Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report.A-type lamins: guardians of the soma?A case of congenital generalized lipodystrophy: metabolic effects of four dietary regimens. Lack of association of CGL with polymorphism in the lamin A/C Gene.Genetic and physiological insights into the metabolic syndrome.Nuclear mechanics in diseaseLamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutationsLong-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy.New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand.Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophyLamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy.Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.Lamins, laminopathies and disease mechanisms: possible role for proteasomal degradation of key regulatory proteins.Congenital lipodystrophies and dyslipidemias.
P2860
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P2860
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
description
2000 nî lūn-bûn
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2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2000 թվականի ապրիլին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
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name
Mutational and haplotype analy ...... C-terminal domain of lamin A/C
@ast
Mutational and haplotype analy ...... C-terminal domain of lamin A/C
@en
Mutational and haplotype analyses of families with familial partial lipodystrophy
@nl
type
label
Mutational and haplotype analy ...... C-terminal domain of lamin A/C
@ast
Mutational and haplotype analy ...... C-terminal domain of lamin A/C
@en
Mutational and haplotype analyses of families with familial partial lipodystrophy
@nl
prefLabel
Mutational and haplotype analy ...... C-terminal domain of lamin A/C
@ast
Mutational and haplotype analy ...... C-terminal domain of lamin A/C
@en
Mutational and haplotype analyses of families with familial partial lipodystrophy
@nl
P2093
P2860
P356
P1476
Mutational and haplotype analy ...... C-terminal domain of lamin A/C
@en
P2093
R A Speckman
S I Taylor
P2860
P304
P356
10.1086/302836
P407
P577
2000-04-01T00:00:00Z