In der Gruppe der kombinierten familiären Hyperlipämie mit Dysfunktion des Fettgewebes finden sich vor allem Mutationen von Genen, die im Fettgewebe aktiv sind und dort für einen Abbau der Lipide verantwortlich sind.
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Lohmueller KE et al. (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. |
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Nikiforova MN et al. (2003) RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. |
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Dwight T et al. (2003) Involvement of the PAX8/peroxisome proliferator-activated receptor gamma rearrangement in follicular thyroid tumors. |
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Balthasar N et al. (2004) Leptin receptor signaling in POMC neurons is required for normal body weight homeostasis. |
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Hansen SK et al. (2005) Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes. |
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Scott LJ et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. |
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Zeggini E et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. |
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None (1978) Obese and diabetes: two mutant genes causing diabetes-obesity syndromes in mice. |
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None (1973) Effects of parabiosis of obese with diabetes and normal mice. |
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Tartaglia LA et al. (1995) Identification and expression cloning of a leptin receptor, OB-R. |
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Chua SC et al. (1996) Phenotypes of mouse diabetes and rat fatty due to mutations in the OB (leptin) receptor. |
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Chen H et al. (1996) Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice. |
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Lee GH et al. (1996) Abnormal splicing of the leptin receptor in diabetic mice. |
17. |
Considine RV et al. (1996) The hypothalamic leptin receptor in humans: identification of incidental sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations. |
18. |
None (1996) Reflections on STAT3, STAT5, and STAT6 as fat STATs. |
19. |
Ghilardi N et al. (1996) Defective STAT signaling by the leptin receptor in diabetic mice. |
20. |
Chung WK et al. (1996) Mapping of the OB receptor to 1p in a region of nonconserved gene order from mouse and rat to human. |
21. |
Takaya K et al. (1996) Molecular cloning of rat leptin receptor isoform complementary DNAs--identification of a missense mutation in Zucker fatty (fa/fa) rats. |
22. |
Vaisse C et al. (1996) Leptin activation of Stat3 in the hypothalamus of wild-type and ob/ob mice but not db/db mice. |
23. |
Winick JD et al. (1996) Identification of microsatellite markers linked to the human leptin receptor gene on chromosome 1. |
24. |
Takaya K et al. (1996) Nonsense mutation of leptin receptor in the obese spontaneously hypertensive Koletsky rat. |
25. |
Chung WK et al. (1996) Genomic structure of the human OB receptor and identification of two novel intronic microsatellites. |
26. |
Golden PL et al. (1997) Human blood-brain barrier leptin receptor. Binding and endocytosis in isolated human brain microvessels. |
27. |
Gotoda T et al. (1997) Leptin receptor gene variation and obesity: lack of association in a white British male population. |
28. |
Gloaguen I et al. (1997) Ciliary neurotrophic factor corrects obesity and diabetes associated with leptin deficiency and resistance. |
29. |
Clément K et al. (1998) A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. |
30. |
Sierra-Honigmann MR et al. (1998) Biological action of leptin as an angiogenic factor. |
31. |
Ducy P et al. (2000) Leptin inhibits bone formation through a hypothalamic relay: a central control of bone mass. |
32. |
Rosmond R et al. (2000) Hypertension in obesity and the leptin receptor gene locus. |
33. |
Quinton ND et al. (2001) A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women. |
34. |
Wauters M et al. (2001) Leptin receptor gene polymorphisms are associated with insulin in obese women with impaired glucose tolerance. |
36. |
Cohen P et al. (2001) Selective deletion of leptin receptor in neurons leads to obesity. |
37. |
Tian Z et al. (2002) Impaired natural killer (NK) cell activity in leptin receptor deficient mice: leptin as a critical regulator in NK cell development and activation. |
38. |
Bates SH et al. (2003) STAT3 signalling is required for leptin regulation of energy balance but not reproduction. |
39. |
Kaneto H et al. (2004) Possible novel therapy for diabetes with cell-permeable JNK-inhibitory peptide. |
40. |
Zhang EE et al. (2004) Neuronal Shp2 tyrosine phosphatase controls energy balance and metabolism. |
41. |
Morton GJ et al. (2005) Leptin action in the forebrain regulates the hindbrain response to satiety signals. |
42. |
de Luca C et al. (2005) Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes. |
43. |
Park KS et al. (2006) Polymorphisms in the leptin receptor (LEPR)--putative association with obesity and T2DM. |
44. |
Raju SV et al. (2006) Activation of the cardiac ciliary neurotrophic factor receptor reverses left ventricular hypertrophy in leptin-deficient and leptin-resistant obesity. |
45. |
Farooqi IS et al. (2007) Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. |
46. |
Björnholm M et al. (2007) Mice lacking inhibitory leptin receptor signals are lean with normal endocrine function. |
47. |
Richert L et al. (2007) Bone mass in prepubertal boys is associated with a Gln223Arg amino acid substitution in the leptin receptor. |
48. |
Morioka T et al. (2007) Disruption of leptin receptor expression in the pancreas directly affects beta cell growth and function in mice. |
49. |
Seo S et al. (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. |
50. |
Sun Q et al. (2010) Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels. |
51. |
Duggal P et al. (2011) A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children. |
52. |
Czupryn A et al. (2011) Transplanted hypothalamic neurons restore leptin signaling and ameliorate obesity in db/db mice. |
53. |
Ding L et al. (2012) Endothelial and perivascular cells maintain haematopoietic stem cells. |
54. |
Marie CS et al. (2012) Leptin protects host cells from Entamoeba histolytica cytotoxicity by a STAT3-dependent mechanism. |
55. |
Kunisaki Y et al. (2013) Arteriolar niches maintain haematopoietic stem cell quiescence. |
57. |
Gupta RK et al. (2010) Transcriptional control of preadipocyte determination by Zfp423. |
58. |
Zhang LJ et al. (2015) Innate immunity. Dermal adipocytes protect against invasive Staphylococcus aureus skin infection. |
59. |
Sahin E et al. (2011) Telomere dysfunction induces metabolic and mitochondrial compromise. |
60. |
Michalik L et al. (2001) Impaired skin wound healing in peroxisome proliferator-activated receptor (PPAR)alpha and PPARbeta mutant mice. |
61. |
Tarrade A et al. (2001) PPARgamma/RXRalpha heterodimers control human trophoblast invasion. |
62. |
Rocchi S et al. (2001) A unique PPARgamma ligand with potent insulin-sensitizing yet weak adipogenic activity. |
63. |
Rosen ED et al. (2002) C/EBPalpha induces adipogenesis through PPARgamma: a unified pathway. |
64. |
Ren D et al. (2002) PPARgamma knockdown by engineered transcription factors: exogenous PPARgamma2 but not PPARgamma1 reactivates adipogenesis. |
65. |
Agarwal AK et al. (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. |
66. |
Hara M et al. (2002) Insulin resistance is attenuated in women with polycystic ovary syndrome with the Pro(12)Ala polymorphism in the PPARgamma gene. |
68. |
Yun Z et al. (2002) Inhibition of PPAR gamma 2 gene expression by the HIF-1-regulated gene DEC1/Stra13: a mechanism for regulation of adipogenesis by hypoxia. |
71. |
Ge K et al. (2002) Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis. |
72. |
Pawliczak R et al. (2002) 85-kDa cytosolic phospholipase A2 mediates peroxisome proliferator-activated receptor gamma activation in human lung epithelial cells. |
73. |
Ardlie KG et al. (2002) Testing for population subdivision and association in four case-control studies. |
74. |
Fajas L et al. (2002) E2Fs regulate adipocyte differentiation. |
75. |
Savage DB et al. (2002) Digenic inheritance of severe insulin resistance in a human pedigree. |
76. |
Marques AR et al. (2002) Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas. |
78. |
Sewter C et al. (2002) Differential effects of adiposity on peroxisomal proliferator-activated receptor gamma1 and gamma2 messenger ribonucleic acid expression in human adipocytes. |
79. |
Girnun GD et al. (2002) APC-dependent suppression of colon carcinogenesis by PPARgamma. |
80. |
Heaney AP et al. (2002) Functional PPAR-gamma receptor is a novel therapeutic target for ACTH-secreting pituitary adenomas. |
81. |
Yu S et al. (2003) Adipocyte-specific gene expression and adipogenic steatosis in the mouse liver due to peroxisome proliferator-activated receptor gamma1 (PPARgamma1) overexpression. |
82. |
Hegele RA et al. (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. |
83. |
Fajas L et al. (2002) The retinoblastoma-histone deacetylase 3 complex inhibits PPARgamma and adipocyte differentiation. |
84. |
Savage DB et al. (2003) Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. |
86. |
Ameshima S et al. (2003) Peroxisome proliferator-activated receptor gamma (PPARgamma) expression is decreased in pulmonary hypertension and affects endothelial cell growth. |
87. |
Welch JS et al. (2003) PPARgamma and PPARdelta negatively regulate specific subsets of lipopolysaccharide and IFN-gamma target genes in macrophages. |
88. |
Qi C et al. (2003) Transcriptional coactivator PRIP, the peroxisome proliferator-activated receptor gamma (PPARgamma)-interacting protein, is required for PPARgamma-mediated adipogenesis. |
89. |
Nakamichi Y et al. (2003) PPAR-gamma overexpression suppresses glucose-induced proinsulin biosynthesis and insulin release synergistically with pioglitazone in MIN6 cells. |
90. |
Bruemmer D et al. (2003) Regulation of the growth arrest and DNA damage-inducible gene 45 (GADD45) by peroxisome proliferator-activated receptor gamma in vascular smooth muscle cells. |
91. |
Wang C et al. (2003) Cyclin D1 repression of peroxisome proliferator-activated receptor gamma expression and transactivation. |
92. |
Saez E et al. (2003) Genetic deficiency in Pparg does not alter development of experimental prostate cancer. |
93. |
Eriksson J et al. (2003) The effects of the Pro12Ala polymorphism of the PPARgamma-2 gene on lipid metabolism interact with body size at birth. |
94. |
Memisoglu A et al. (2003) Interaction between a peroxisome proliferator-activated receptor gamma gene polymorphism and dietary fat intake in relation to body mass. |
95. |
Rosen ED et al. (2003) Targeted elimination of peroxisome proliferator-activated receptor gamma in beta cells leads to abnormalities in islet mass without compromising glucose homeostasis. |
96. |
Masud S et al. (2003) Effect of the peroxisome proliferator activated receptor-gamma gene Pro12Ala variant on body mass index: a meta-analysis. |
97. |
Herzig S et al. (2003) CREB controls hepatic lipid metabolism through nuclear hormone receptor PPAR-gamma. |
98. |
Song J et al. (2003) Peroxisome proliferator-activated receptor gamma C161T polymorphisms and survival of Japanese patients with immunoglobulin A nephropathy. |
99. |
Hevener AL et al. (2003) Muscle-specific Pparg deletion causes insulin resistance. |
100. |
He W et al. (2003) Adipose-specific peroxisome proliferator-activated receptor gamma knockout causes insulin resistance in fat and liver but not in muscle. |
101. |
Orio F et al. (2003) Exon 6 and 2 peroxisome proliferator-activated receptor-gamma polymorphisms in polycystic ovary syndrome. |
102. |
Kelly D et al. (2004) Commensal anaerobic gut bacteria attenuate inflammation by regulating nuclear-cytoplasmic shuttling of PPAR-gamma and RelA. |
103. |
Evans RM et al. (2004) PPARs and the complex journey to obesity. |
104. |
Akune T et al. (2004) PPARgamma insufficiency enhances osteogenesis through osteoblast formation from bone marrow progenitors. |
105. |
Picard F et al. (2004) Sirt1 promotes fat mobilization in white adipocytes by repressing PPAR-gamma. |
106. |
Patsouris D et al. (2004) PPARalpha governs glycerol metabolism. |
107. |
Zhang J et al. (2004) Selective disruption of PPARgamma 2 impairs the development of adipose tissue and insulin sensitivity. |
108. |
Hegele RA et al. (2004) Unbuckling lipodystrophy from insulin resistance and hypertension. |
109. |
Tsai YS et al. (2004) Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. |
110. |
Temelkova-Kurktschiev T et al. (2004) Ala12Ala genotype of the peroxisome proliferator-activated receptor gamma2 protects against atherosclerosis. |
111. |
Buzzetti R et al. (2004) The common PPAR-gamma2 Pro12Ala variant is associated with greater insulin sensitivity. |
112. |
Bulotta A et al. (2005) The common -866G/A polymorphism in the promoter region of the UCP-2 gene is associated with reduced risk of type 2 diabetes in Caucasians from Italy. |
113. |
Kim KS et al. (2004) Effects of peroxisome proliferator-activated receptor-gamma 2 Pro12Ala polymorphism on body fat distribution in female Korean subjects. |
114. |
Guan Y et al. (2005) Thiazolidinediones expand body fluid volume through PPARgamma stimulation of ENaC-mediated renal salt absorption. |
115. |
Pascual G et al. (2005) A SUMOylation-dependent pathway mediates transrepression of inflammatory response genes by PPAR-gamma. |
116. |
Uno K et al. (2006) Neuronal pathway from the liver modulates energy expenditure and systemic insulin sensitivity. |
117. |
Hansen L et al. (2006) The Pro12Ala variant of the PPARG gene is a risk factor for peroxisome proliferator-activated receptor-gamma/alpha agonist-induced edema in type 2 diabetic patients. |
118. |
Florez JC et al. (2007) Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone. |
120. |
Lüdtke A et al. (2007) Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy. |
121. |
Odegaard JI et al. (2007) Macrophage-specific PPARgamma controls alternative activation and improves insulin resistance. |
122. |
Wan Y et al. (2007) Maternal PPAR gamma protects nursing neonates by suppressing the production of inflammatory milk. |
123. |
Wan Y et al. (2007) PPAR-gamma regulates osteoclastogenesis in mice. |
124. |
Are A et al. (2008) Enterococcus faecalis from newborn babies regulate endogenous PPARgamma activity and IL-10 levels in colonic epithelial cells. |
125. |
Tang W et al. (2008) White fat progenitor cells reside in the adipose vasculature. |
126. |
Chandra V et al. (2008) Structure of the intact PPAR-gamma-RXR- nuclear receptor complex on DNA. |
127. |
Choi JH et al. (2010) Anti-diabetic drugs inhibit obesity-linked phosphorylation of PPARgamma by Cdk5. |
128. |
Ryan KK et al. (2011) A role for central nervous system PPAR-γ in the regulation of energy balance. |
129. |
Lu M et al. (2011) Brain PPAR-γ promotes obesity and is required for the insulin-sensitizing effect of thiazolidinediones. |
130. |
Choi JH et al. (2011) Antidiabetic actions of a non-agonist PPARγ ligand blocking Cdk5-mediated phosphorylation. |
131. |
Dutchak PA et al. (2012) Fibroblast growth factor-21 regulates PPARγ activity and the antidiabetic actions of thiazolidinediones. |
132. |
Jonker JW et al. (2012) A PPARγ-FGF1 axis is required for adaptive adipose remodelling and metabolic homeostasis. |
133. |
Cipolletta D et al. (2012) PPAR-γ is a major driver of the accumulation and phenotype of adipose tissue Treg cells. |
134. |
Banks AS et al. (2015) An ERK/Cdk5 axis controls the diabetogenic actions of PPARγ. |
135. |
OMIM.ORG article Omim 601487 |