Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy
about
The nuclear envelopathies and human diseasesTMEM120A and B: Nuclear Envelope Transmembrane Proteins Important for Adipocyte DifferentiationMany roads lead to a broken heart: the genetics of dilated cardiomyopathy.Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Genes and pathophysiology of type 2 diabetes: more than just the Randle cycle all over againMandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CSurgical implantation of adipose tissue reverses diabetes in lipoatrophic miceMutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effectsSequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophyRecruitment of protein phosphatase 1 to the nuclear envelope by A-kinase anchoring protein AKAP149 is a prerequisite for nuclear lamina assemblyLamin A/C truncation in dilated cardiomyopathy with conduction diseaseExpression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationStructure of the globular tail of nuclear laminStructure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD)Genetic Variations Leading to Familial Dilated CardiomyopathyThe nuclear envelope in muscular dystrophy and cardiovascular diseasesLife at the edge: the nuclear envelope and human diseaseLaminopathies and the long strange trip from basic cell biology to therapyAbnormal nuclear shape and impaired mechanotransduction in emerin-deficient cellsMonogenic dyslipidemias: window on determinants of plasma lipoprotein metabolismNuclear lamin A/C deficiency induces defects in cell mechanics, polarization, and migrationDefects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient miceCommon variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjectsQuantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging.Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girlDynamics of lamin-A processing following precursor accumulation.Diseases of the nuclear envelope.LMNA mutations, skeletal muscle lipid metabolism, and insulin resistanceDeletion of the lmna gene induces growth delay and serum biochemical changes in C57BL/6 miceA flow cytometry-based screen of nuclear envelope transmembrane proteins identifies NET4/Tmem53 as involved in stress-dependent cell cycle withdrawal.Porcine LMNA Is a Positional Candidate Gene Associated with Growth and Fat Deposition.RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.The molecular neuropathology of the muscular dystrophies: a review and update.Linkage and cytogenetic mapping of the BCL9 gene to porcine chromosome 4.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/CA Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.Anti-retroviral therapy, insulin resistance and lipodystrophy.The human obesity gene map: the 2000 update."Laminopathies": a wide spectrum of human diseases.
P2860
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P2860
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy
description
2000 nî lūn-bûn
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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
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
@wuu
name
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@ast
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@en
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@nl
type
label
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@ast
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@en
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@nl
prefLabel
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@ast
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@en
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@nl
P3181
P356
P1476
Nuclear lamin A/C R482Q mutati ...... familial partial lipodystrophy
@en
P2093
P304
P3181
P356
10.1093/HMG/9.1.109
P407
P577
2000-01-01T00:00:00Z