[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 …
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 …
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 …
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
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 …
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 …
иммунологических факторов в патогенезе генитального эндометриоза, обсуждаются …
[HTML][HTML] Plasma kisspeptin levels are associated with insulin secretion in nondiabetic individuals
To evaluate if plasma kisspeptin concentrations are associated with insulin secretion, as
suggested by recent in vitro studies, independently of confounders. 261 nondiabetic …
suggested by recent in vitro studies, independently of confounders. 261 nondiabetic …
Two frameshift mutations in MKRN3 in Turkish patients with familial central precocious puberty
Background: Little is known about the genetic causes responsible for idiopathic central
precocious puberty (iCPP). More recently, described loss-of-function mutations in the …
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 …
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) …
modulated by genetic factors. This study aimed to identify the kisspeptin receptor (KISS1R) …
A novel MKRN3 nonsense mutation causing familial central precocious puberty
Central or gonadotropin-dependent precocious puberty (CPP) caused by early activation of
pulsatile Gonadotropinreleasing hormone (GnRH) secretion is clinically defined by the early …
pulsatile Gonadotropinreleasing hormone (GnRH) secretion is clinically defined by the early …