[HTML][HTML] Thyroid hormone regulated genes in cerebral cortex development

J Bernal - Journal of Endocrinology, 2017 - joe.bioscientifica.com
Endothelial dysfunction is an important risk factor for cardiovascular disease, and it
represents the initial step in the pathogenesis of atherosclerosis. Failure to protect against …

The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP)

S Leka-Emiri, GP Chrousos… - Journal of …, 2017 - Springer
Puberty is a major developmental stage. Damaging mutations, considered as “mistakes of
nature”, have contributed to the unraveling of the networks implicated in the normal initiation …

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

A Dauber, M Cunha-Silva, DB Macedo… - The Journal of …, 2017 - academic.oup.com
Context: Central precocious puberty (CPP) results from premature activation of the
hypothalamic–pituitary–gonadal axis. Few genetic causes of CPP have been identified, with …

High frequency of MKRN3 mutations in male central precocious puberty previously classified as idiopathic

DS Bessa, DB Macedo, VN Brito, MM França… - …, 2017 - karger.com
Background/Aims: Recently, loss-of-function mutations in the MKRN3 gene have been
implicated in the etiology of familial central precocious puberty (CPP) in both sexes. We …

Генитальный эндометриоз

МИ Ярмолинская, ЭК Айламазян - 2017 - elibrary.ru
В книге рассматриваются современные взгляды о роли генетических, эндокринных и
иммунологических факторов в патогенезе генитального эндометриоза, обсуждаются …

[HTML][HTML] Plasma kisspeptin levels are associated with insulin secretion in nondiabetic individuals

F Andreozzi, GC Mannino, E Mancuso, R Spiga… - PloS one, 2017 - journals.plos.org
To evaluate if plasma kisspeptin concentrations are associated with insulin secretion, as
suggested by recent in vitro studies, independently of confounders. 261 nondiabetic …

Two frameshift mutations in MKRN3 in Turkish patients with familial central precocious puberty

E Simsek, M Demiral, S Ceylaner, B Kırel - Hormone research in …, 2017 - karger.com
Background: Little is known about the genetic causes responsible for idiopathic central
precocious puberty (iCPP). More recently, described loss-of-function mutations in the …

Paradoxical gain‐of‐function mutant of the G‐protein‐coupled receptor PROKR 2 promotes early puberty

M Fukami, E Suzuki, Y Izumi, T Torii… - Journal of Cellular …, 2017 - Wiley Online Library
The human genome encodes~ 750 G‐protein‐coupled receptors (GPCR s), including
prokineticin receptor 2 (PROKR 2) involved in the regulation of sexual maturation …

[HTML][HTML] Genetic variations of the KISS1R gene in Korean girls with central precocious puberty

YJ Oh, YJ Rhie, HK Nam, HR Kim… - Journal of Korean …, 2017 - ncbi.nlm.nih.gov
The timing of puberty onset varies greatly among individuals, and much of this variation is
modulated by genetic factors. This study aimed to identify the kisspeptin receptor (KISS1R) …

A novel MKRN3 nonsense mutation causing familial central precocious puberty

A Christoforidis, N Skordis, P Fanis, M Dimitriadou… - Endocrine, 2017 - Springer
Central or gonadotropin-dependent precocious puberty (CPP) caused by early activation of
pulsatile Gonadotropinreleasing hormone (GnRH) secretion is clinically defined by the early …