The Experts below are selected from a list of 693633 Experts worldwide ranked by ideXlab platform
Jeffrey M Friedma - One of the best experts on this subject based on the ideXlab platform.
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abnormal splicing of the leptin receptor in diabetic mice
Nature, 1996Co-Authors: Gwohwa Lee, Ricardo Proenca, Jaso M Montez, K M Carroll, J G Darvishzadeh, Jinwo Lee, Jeffrey M FriedmaAbstract:MUTATIONS in the mouse diabetes(db) gene result in Obesity and diabetes in a syndrome resembling morbid human Obesity1. Previous data suggest that the db gene encodes the receptor for the obese(ob) gene product, leptin2–7. A leptin receptor was recently cloned from choroid plexus and shown to map to the same 6-cM interval on mouse chromosome 4 as db8. This receptor maps to the same 300-kilobase interval as db, and has at least six alternatively spliced forms. One of these splice variants is expressed at a high level in the hypothalamus, and is abnormally spliced in C57BL/Ks db/db mice. The mutant protein is missing the cytoplasmic region, and is likely to be defective in signal transduction. This suggests that the weight-reducing effects of leptin may be mediated by signal transduction through a leptin receptor in the hypothalamus.
Jeanmarc Lacorte - One of the best experts on this subject based on the ideXlab platform.
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a mutation in the human leptin receptor gene causes Obesity and pituitary dysfunction
Nature, 1998Co-Authors: Karine Clément, Christian Vaisse, Najiba Lahlou, Sylvie Cabrol, Veronique Pelloux, Dominique Cassuto, M Gourmelen, Christian Dina, Jean Chambaz, Jeanmarc LacorteAbstract:The adipocyte-specific hormone leptin, the product of the obese (ob) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure1,2,3,4. Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family5,6,7. In rodents, homozygous mutations ingenes encoding leptin1 or the leptin receptor6 cause early-onsetmorbid Obesity, hyperphagia and reduced energy expenditure. These rodents also show hypercortisolaemia, alterations in glucose homeostasis, dyslipidaemia, and infertility due to hypogonadotropic hypogonadism8. In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset Obesity9. Here we describe a homozygous mutation in the human leptin receptor gene that results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains. In addition to their early-onset morbid Obesity, patients homozygous for this mutation have no pubertal development and their secretion of growth hormone and thyrotropin is reduced. These results indicate that leptin is an important physiological regulator of several endocrine functions in humans.
Gwohwa Lee - One of the best experts on this subject based on the ideXlab platform.
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abnormal splicing of the leptin receptor in diabetic mice
Nature, 1996Co-Authors: Gwohwa Lee, Ricardo Proenca, Jaso M Montez, K M Carroll, J G Darvishzadeh, Jinwo Lee, Jeffrey M FriedmaAbstract:MUTATIONS in the mouse diabetes(db) gene result in Obesity and diabetes in a syndrome resembling morbid human Obesity1. Previous data suggest that the db gene encodes the receptor for the obese(ob) gene product, leptin2–7. A leptin receptor was recently cloned from choroid plexus and shown to map to the same 6-cM interval on mouse chromosome 4 as db8. This receptor maps to the same 300-kilobase interval as db, and has at least six alternatively spliced forms. One of these splice variants is expressed at a high level in the hypothalamus, and is abnormally spliced in C57BL/Ks db/db mice. The mutant protein is missing the cytoplasmic region, and is likely to be defective in signal transduction. This suggests that the weight-reducing effects of leptin may be mediated by signal transduction through a leptin receptor in the hypothalamus.
Caroline S Fox - One of the best experts on this subject based on the ideXlab platform.
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mid adulthood cardiometabolic risk factor profiles of sarcopenic Obesity
Obesity, 2016Co-Authors: Shihjen Hwang, Gearoid M Mcmahon, Gary C Curhan, Robert R Mclean, Joanne M Murabito, Caroline S FoxAbstract:Objective Midlife and contemporaneous cardiometabolic risk factors associated with sarcopenic Obesity were examined. Methods Utilizing BMI and sex-specific 24-h urinary creatinine excretion, 1,019 participants from the Framingham cohorts were categorized as non-sarcopenia non-obese (NSNO), non-obese sarcopenia, non-sarcopenic Obesity, and sarcopenic Obesity. Cardiometabolic risk factors were quantified by standard laboratory assessment cross-sectionally and 10, 20, and 30 years before sarcopenic Obesity assessment. Results NSNO, sarcopenia, Obesity, and sarcopenic Obesity accounted for 30.0%, 39.6%, 20.0%, and 10.4% of study participants, respectively. Cross-sectionally, participants with sarcopenic Obesity had a higher proportion of hypertension, metabolic syndrome, and type 2 diabetes than those with NSNO or sarcopenia (all P < 0.03). Similar patterns were observed retrospectively at 10, 20, and 30 years. Compared with NSNO or sarcopenia, sarcopenic Obesity was associated with a higher prevalence of type 2 diabetes at 10 years and hypertension and metabolic syndrome at all three time points before baseline (all P < 0.03). Individuals with sarcopenic Obesity had more type 2 diabetes than those with Obesity alone at baseline and 10 years prior (all P < 0.001). Conclusions Older adults with sarcopenic Obesity had more adverse midlife cardiometabolic risks, particularly diabetes 10 years earlier, which suggests the importance of early identification of risk factors associated with sarcopenic Obesity.
Katsuhiko Kohara - One of the best experts on this subject based on the ideXlab platform.
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sarcopenic Obesity in aging population current status and future directions for research
Endocrine, 2014Co-Authors: Katsuhiko KoharaAbstract:The combination of sarcopenia and Obesity, an age-related change in body composition, is a concern in the aged society. Sarcopenic Obesity is not the combination of two conditions, but is more related to cardio-metabolic and functional abnormalities. Sarcopenic Obesity is associated with more physical functional decline than simple Obesity. Sarcopenic Obesity may be more insulin resistant, and have a higher risk for metabolic syndrome and atherosclerosis than simple Obesity. However, the prevalence of sarcopenic Obesity differs substantially among studies because of the lack of a standard definition. For further understanding of the pathophysiological role of sarcopenic Obesity, a standardized definition for both sarcopenia and Obesity is necessary.