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8 Possible Causes for Mutation in the Hormone Sensitive Lipase Gene

  • Metabolic Syndrome

    Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.[ncbi.nlm.nih.gov] Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.[ncbi.nlm.nih.gov]

  • Familial Partial Lipodystrophy

    CONCLUSIONS: We have identified a novel nonsense mutation in hormone sensitive lipase gene, which likely explains the lipodystrophy phenotype observed in these patients.[ncbi.nlm.nih.gov] […] in hormone-sensitive lipase gene and risk of type 2 diabetes.[genome.jp] EMBO Mol Med 2009; 1 : 280–287. 14 Albert JS, Yerges-Armstrong LM, Horenstein RB et al : Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.[nature.com]

  • Multiple Symmetric Lipomatosis

    (Glu1035*) protein change in hormone sensitive lipase (LIPE) gene as the disease-causing variant.[ncbi.nlm.nih.gov] Hormone sensitive lipase is the predominant regulator of lipolysis from adipocytes, releasing free fatty acids from stored triglycerides.[ncbi.nlm.nih.gov] Sanger sequencing further confirmed the segregation of the mutation in the family.[ncbi.nlm.nih.gov]

  • Acquired Partial Lipodystrophy

    […] in hormone-sensitive lipase gene and risk of type 2 diabetes.[genome.jp] RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM タイトル Null mutation[genome.jp] RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM Title Null mutation[genome.jp]

  • Lipodystrophy

    Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.[ncbi.nlm.nih.gov] Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy due to LMNA Mutation

    […] in hormone-sensitive lipase gene and risk of type 2 diabetes.[genome.jp] RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM タイトル Null mutation[genome.jp]

  • Transient Infantile Hypertriglyceridemia and Hepatosteatosis

    Albert JS, Yerges-Armstrong LM, Horenstein RB et al. (2014) Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.[link.springer.com] Wu JW, Wang SP, Casavant S et al. (2012) Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase.[link.springer.com]

  • Familial Isolated Trichomegaly

    Albert JS, Yerges-Armstrong LM, Horenstein RB et al. (2014) Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.[link.springer.com] Wu JW, Wang SP, Casavant S et al. (2012) Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase.[link.springer.com]

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