Abstract:
:Loss-of-function mutations in the gene encoding the makorin RING finger protein 3 (MKRN3) have recently been reported to underlie familial cases of central precocious puberty (CPP). The imprinted MKRN3 gene is expressed only from the paternal allele, and mutations inherited from the father affect boys and girls equally, which is in contrast to the known female preponderance in idiopathic CPP. By screening a series of 6 families and 1 male patient with idiopathic CPP, we identified 2 further families carrying loss-of-function mutations in MKRN3, the previously reported variant c.475_476insC (p.Ala162Glyfs*14) and a novel one, c.331G>T (p.Glu111*). We conclude that MKRN3 mutations appear to be a frequent cause of familial CPP and, considering the imprinted mode of inheritance, may also account for a certain proportion of isolated CPP cases. Remarkably, four out of six MKRN3 mutations described so far encode either a stop codon or a frameshift followed by a premature stop codon. Consequently, there may be less severe mutations that possibly associate with more subtle phenotypes, which could even explain variation within the physiological range. Mutation screening in larger cohorts is necessary in order to estimate the real prevalence of MKRN3 mutations in idiopathic CPP.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Schreiner F,Gohlke B,Hamm M,Korsch E,Woelfle Jdoi
10.1159/000362815subject
Has Abstractpub_date
2014-01-01 00:00:00pages
122-6issue
2eissn
1663-2818issn
1663-2826pii
000362815journal_volume
82pub_type
杂志文章abstract:BACKGROUND/AIMS:Over the years a rise in the incidence of congenital hypothyroidism (CH) has been described worldwide. The aim of our study was to investigate trends in the incidence of CH in Italy over the period 1987-2008, and to investigate which factors may have influenced the CH incidence in our country. METHODS:...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000369394
更新日期:2015-01-01 00:00:00
abstract:AIMS:To examine the cross-sectional relationship between blood pressure (BP) and (1) in vivo insulin sensitivity (IS) and (2) circulating adiponectin levels in overweight adolescents, and to determine if these relationships are driven by adiposity. METHODS:Sixty-five white pubertal overweight adolescents underwent a h...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000331462
更新日期:2011-01-01 00:00:00
abstract::3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities. CUL7 is a stru...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000334392
更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000452445
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIMS:Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in orde...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000475991
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIM:Four SNPs (E10SNP24, E10SNP158, E12SNP, E33SNP) in the Tg gene are suspected to be involved in the development of autoimmune thyroid diseases. The aim of the study was to determine whether these variants play a role in the development of Hashimoto's thyroiditis in young subjects with type 1 diabetes, in ...
journal_title:Hormone research in paediatrics
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doi:10.1159/000284388
更新日期:2010-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000338341
更新日期:2012-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000328454
更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000329549
更新日期:2011-01-01 00:00:00
abstract::The US Food and Drug Administration approved use of recombinant human growth hormone (GH) for the treatment of idiopathic short stature (ISS) in children; however, few studies have evaluated metabolic outcomes. This article addresses whether children with ISS treated with GH experience the same metabolic benefits as c...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000330165
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Insulin-like growth factor I (IGF-I) immunoassays are primarily used to estimate IGF-I status. Recently an IGF-I-specific kinase receptor activation assay (KIRA) was developed as an alternative method for measuring IGF-I bioactivity. When compared with IGF-I immunoassays, the IGF-I KIRA has the theoretical a...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000329191
更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
doi:10.1159/000351022
更新日期:2014-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000337254
更新日期:2012-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000449057
更新日期:2016-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000284359
更新日期:2010-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000315656
更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000437142
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND/AIMS:There is limited information on the impact of recombinant human growth hormone (rhGH) on the muscle-bone unit in children with Crohn's disease (CD). In this pilot study, we report on the effects of rhGH on bone formation, dual-energy X-ray absorptiometry (DXA) total body (TB) bone mineral density adjust...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2018-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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更新日期:2016-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2018-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000368924
更新日期:2015-01-01 00:00:00
abstract:AIM:Our aim was to investigate the relationships between the degree of IGF2 methylation and the metabolic status in obese children and adolescents. SUBJECTS AND METHODS:Eighty-five obese subjects aged 11.6 ± 2.1 years were studied. Anthropometry, metabolic parameters, blood pressure and body composition were assessed....
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000351707
更新日期:2013-01-01 00:00:00
abstract::Diabetic ketoacidosis (DKA) may be associated with neurologic complications: the most common is cerebral edema while the risk of venous and arterial stroke is rare. There is a pathogenetic link between DKA, hypercoagulability and stroke, whose risk is underestimated by clinicians. Our cases present a wide spectrum of ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000382016
更新日期:2015-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000338344
更新日期:2012-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000356920
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND/AIMS:Type 1 diabetes (T1DM) is associated with gastric autoimmunity, which is characterized by the presence of parietal cell antibodies (APCA). We investigated gastric autoimmunity prevalence in T1DM children, its manifestations, determinants and association with thyroid gland (anti-Tg, anti-TPO) and pancrea...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000336923
更新日期:2012-01-01 00:00:00
abstract:CONTEXT:Short stature homeobox-containing gene (SHOX) variants of unknown clinical significance occur frequently among children with short stature, yet their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) status and response to GH have not been studied. OBJECTIVE:To define GH and IGF-1 status in children wit...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000365507
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Aromatase inhibition has been proposed as a potential approach for growth enhancement in children with short stature, but detailed animal studies are lacking. AIM:To assess the effect and potential adverse effects of aromatase inhibition on growth in female rats. METHODS:Prepubertal Wistar rats received in...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000271916
更新日期:2010-01-01 00:00:00
abstract::Glucocorticoids (GCs), cortisol in humans, influence multiple essential maturational events during gestation. In the human fetus, fetal hypothalamic-pituitary-adrenal (HPA) axis function, fetal adrenal steroidogenesis, placental 11β- hydroxysteroid dehydrogenase type 2 activity, maternal cortisol concentrations, and e...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000488106
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000323441
更新日期:2011-01-01 00:00:00