(Q34610713)

3 August 2017

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title

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism (English)

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3 August 2017

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1

Robert A Hegele

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Brian Rutt

series ordinal

4

object named as

Brian K Rutt

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3 August 2017

Tisha R Joy

2

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3 August 2017

Salam A Al-Attar

series ordinal

3

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3 August 2017

publication date

20 March 2007

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Journal of Lipid Research

3 August 2017

published in

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3 August 2017

volume

48

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3 August 2017

issue

7

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3 August 2017

page(s)

1433-1444

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Acquired and inherited lipodystrophies

3 August 2017

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A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

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AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

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Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways

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Agpat6 deficiency causes subdermal lipodystrophy and resistance to obesity

21 January 2018

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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

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Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects

21 January 2018

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21 January 2018

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Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients

21 January 2018

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Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

21 January 2018

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Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene

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Köbberling type of familial partial lipodystrophy: an underrecognized syndrome

21 January 2018

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Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.

21 January 2018

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Human laminopathies: nuclei gone genetically awry

21 January 2018

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Prelamin A farnesylation and progeroid syndromes

21 January 2018

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A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.

21 January 2018

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Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

21 January 2018

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A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy

21 January 2018

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Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance

21 January 2018

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A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy

21 January 2018

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Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)

21 January 2018

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PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy

21 January 2018

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Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma.

21 January 2018

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Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma

21 January 2018

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Premature atherosclerosis associated with monogenic insulin resistance.

21 January 2018

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Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature

21 January 2018

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Genome-wide analysis of mouse transcripts using exon microarrays and factor graphs.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Development of cervical fat pads following therapy with human immunodeficiency virus type 1 protease inhibitors.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Hepatic steatosis and HIV infection.

21 January 2018

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Absence of polycystic ovary syndrome features in human immunodeficiency virus-infected women despite significant hyperinsulinemia and truncal adiposity

21 January 2018

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Adiponectin and leptin levels in HIV-infected subjects with insulin resistance and body fat redistribution

21 January 2018

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Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy

21 January 2018

1 reference

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Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

Hutchinson-Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

Molecular bases of progeroid syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

Human Genome and Diseases: A new series of reviews in CMLS Werner Syndrome: genetic and molecular basis of a premature aging disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

Membrane topology of the human seipin protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

ALMNASplicing Mutation in Two Sisters with Severe Dunnigan-Type Familial Partial Lipodystrophy Type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R700004-JLR200

10.1194/JLR.R700004-JLR200

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

1 reference