Abstract：
:The most common etiology of non-syndromic monogenic obesity are mutations in gene for the Melanocortin-4 receptor (MC485) with variable prevalence in different countries (1.2-6.3 % of obese children). The aim of our study was 1) to search for MC4R mutations in obese children in Slovakia and compare their prevalence with other European countries, and 2) to describe the phenotype of the mutation carriers. DNA analysis by direct Sanger sequencing of the coding exons and intron/exon boundaries of the MC4R gene was performed in 268 unrelated Slovak children and adolescents with body mass index above the 97(th) percentile for age and sex and obesity onset up to 11 years (mean 4.3+/-2.8 years). Two different previously described heterozygous loss of function MC4R variants (i.e. p.Ser19Alafs*34, p.Ser127Leu) were identified in two obese probands, and one obese (p.Ser19Alafs*34), and one lean (p.Ser127Leu) adult family relatives. No loss of function variants were found in lean controls. The prevalence of loss-of-function MC4R variants in obese Slovak children was 0.7 %, what is one of the lowest frequencies in Europe.
journal_name
Physiol Resjournal_title
Physiological researchauthors
Stanikova D,Surova M,Ticha L,Petrasova M,Virgova D,Huckova M,Skopkova M,Lobotkova D,Valentinova L,Mokan M,Stanik J,Klimes I,Gasperikova Ddoi
10.33549/physiolres.932968subject
Has Abstractpub_date
2015-01-01 00:00:00pages
883-90issue
6eissn
0862-8408issn
1802-9973pii
932968journal_volume
64pub_type
杂志文章abstract：:Nitric oxide generated from L-arginine is a messenger for cell-to-cell communication. Abnormalities in nitric oxide release have been implicated in diseases ranging from hypertension and atherosclerosis to septic shock and rheumatoid arthritis. We report here the in vivo and in vitro measurements of nitric oxide in th...
journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:Glucose tolerance, insulin binding to erythrocytes, insulinaemia, plasma total cholesterol, plasma triglycerides, weight of fat pads, food consumption and body weight changes were studied in genetically hypertensive lean Koletsky rats. Long-term treatment with dopaminergic agonist terguride (0.2 mg/kg/day) normalized ...
journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：:The overproduction of the free radical nitric oxide (NO) by activated immunocompetent cells with subsequent development of local oxidative stress is supposed to be one of the possible pathophysiological mechanisms of beta-cell damage during streptozotocin-induced diabetes. The blockade of increased NO production by si...
journal_title：Physiological research
pub_type： 杂志文章,评审
doi：
更新日期：2000-01-01 00:00:00
abstract：:Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations. Therefore, the aim of our study was to examine the genetic background of Slovak patients suspected of FH. Patients with clinical suspicion of FH (235 unrelated probands and 124 family relatives) were recruited throughout Slovakia d...
journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.933348
更新日期：2017-03-31 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
abstract：:Instead of a comprehensive review, we describe the basic undisputed facts and a modest contribution of our group to the fascinating area of the research on mitochondrial uncoupling proteins. After defining the terms uncoupling, leak, protein-mediated uncoupling, we discuss the assumption that due to their low abundanc...
journal_title：Physiological research
pub_type： 杂志文章,评审
doi：
更新日期：2004-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.932599
更新日期：2013-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章,评审
doi：10.33549/physiolres.933589
更新日期：2017-04-05 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.931863
更新日期：2011-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.934323
更新日期：2019-11-22 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.934488
更新日期：2020-11-16 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.932153
更新日期：2011-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.933866
更新日期：2018-12-18 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：2007-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：1992-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.934009
更新日期：2019-08-29 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.933765
更新日期：2018-12-18 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.933095
更新日期：2016-11-08 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：1992-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章,评审
doi：10.33549/physiolres.933977
更新日期：2018-10-30 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.932994
更新日期：2016-06-20 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.933776
更新日期：2018-11-14 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
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journal_title：Physiological research
pub_type： 杂志文章
doi：10.33549/physiolres.934300
更新日期：2019-11-30 00:00:00
abstract：:In this experiment we studied the effect of different pedalling rates during cycling at a constant power output (PO) 132+/-31 W (mean+/-S.D.), corresponding to 50% VO2 max, on the oxygen uptake and the magnitude of the slow component of VO2 kinetics in humans. The PO corresponded to 50% of VO2 max, established during ...
journal_title：Physiological research
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1998-01-01 00:00:00
