Literature DB >> 16965332

A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367).

R A Hegele, E Ur, T P Ransom, H Cao.   

Abstract

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Year:  2006        PMID： 16965332     DOI： 10.1111/j.1399-0004.2006.00674.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand.

Authors:  Angelika Lüdtke; Janine Buettner; Hartmut H-J Schmidt; Howard J Worman
Journal:  J Med Genet       Date:  2007-09       Impact factor: 6.318

Review 2.  Obesity and lipodystrophy--where do the circles intersect?

Authors:  Farid F Chehab
Journal:  Endocrinology       Date:  2008-01-17       Impact factor: 4.736

3.  Leptin therapy for partial lipodystrophy linked to a PPAR-gamma mutation.

Authors:  Jean-Marc Guettier; Jean Y Park; Elaine K Cochran; Christine Poitou; Arnaud Basdevant; Muriel Meier; Karine Clément; Jocelyne Magré; Phillip Gorden
Journal:  Clin Endocrinol (Oxf)       Date:  2007-12-10       Impact factor: 3.478

4.  Decreased PPAR gamma expression compromises perigonadal-specific fat deposition and insulin sensitivity.

Authors:  Yau-Sheng Tsai; Pei-Jane Tsai; Man-Jin Jiang; Ting-Yu Chou; Avani Pendse; Hyung-Suk Kim; Nobuyo Maeda
Journal:  Mol Endocrinol       Date:  2009-09-11

5.  'Striking the Right Balance' in Targeting PPARgamma in the Metabolic Syndrome: Novel Insights from Human Genetic Studies.

Authors:  Mark Gurnell
Journal:  PPAR Res       Date:  2007       Impact factor: 4.964

6.  Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Authors:  Vikas Bansal; Johann Gassenhuber; Tierney Phillips; Glenn Oliveira; Rebecca Harbaugh; Nikki Villarasa; Eric J Topol; Thomas Seufferlein; Bernhard O Boehm
Journal:  BMC Med       Date:  2017-12-06       Impact factor: 8.775

7.  Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient.

Authors:  Xi Chen; Zhiqiang Ma; Peng Chen; Xiuli Song; Weihua Li; Xuefeng Yu; Junhui Xie
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-29       Impact factor: 5.555

Review 8.  Lipodystrophic laminopathies: Diagnostic clues.

Authors:  Cristina Guillín-Amarelle; Antía Fernández-Pombo; Sofía Sánchez-Iglesias; David Araújo-Vilar
Journal:  Nucleus       Date:  2018-01-01       Impact factor: 4.197
  8 in total

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