نتایج جستجو برای: gnrhr

تعداد نتایج: 235  

Journal: :Human molecular genetics 2011
Wanda S Layman Elizabeth A Hurd Donna M Martin

CHARGE is a multiple congenital anomaly disorder and a common cause of pubertal defects, olfactory dysfunction, growth delays, deaf-blindness, balance disorders and congenital heart malformations. Mutations in CHD7, the gene encoding chromodomain helicase DNA binding protein 7, are present in 60-80% of individuals with the CHARGE syndrome. Mutations in CHD7 have also been reported in the Kallma...

Journal: :Hormones 2014
Carmen Entrala-Bernal Cristina Montes-Castillo Maria Jesus Alvarez-Cubero Carmen Gutiérrez-Alcántara Francisco Fernandez-Rosado Esther Martinez-Espίn Carolina Sánchez-Malo Piedad Santiago-Fernández

Kallmann Syndrome (KS) is a genetic disease of embryonic development which is characterized by the association of hypogonadotropic hypogonadism (HH) due to a deficit of the gonadotropin-releasing hormone (GnRH) and a hypo/anosmia (including a hypoplasia of the nasal sulcus and agenesis of the olfactory bulbs). Even though it is a genotypically and phenotypically heterogeneous clinical disease, ...

Journal: :The Journal of clinical endocrinology and metabolism 1999
J C Achermann W X Gu T J Kotlar J J Meeks L P Sabacan S B Seminara R L Habiby P C Hindmarsh D P Bick R J Sherins W F Crowley L C Layman J L Jameson

Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the description of mutations in the genes KAL, GNRHR, and PROP1. Mutations in another gene, DAX1 (AHC), cause X-linked adrenal hypoplasia congenita...

Journal: :The Journal of clinical investigation 2007
Nelly Pitteloud Richard Quinton Simon Pearce Taneli Raivio James Acierno Andrew Dwyer Lacey Plummer Virginia Hughes Stephanie Seminara Yu-Zhu Cheng Wei-Ping Li Gavin Maccoll Anna V Eliseenkova Shaun K Olsen Omar A Ibrahimi Frances J Hayes Paul Boepple Janet E Hall Pierre Bouloux Moosa Mohammadi William Crowley

Idiopathic hypogonadotropic hypogonadism (IHH) due to defects of gonadotropin-releasing hormone (GnRH) secretion and/or action is a developmental disorder of sexual maturation. To date, several single-gene defects have been implicated in the pathogenesis of IHH. However, significant inter- and intrafamilial variability and apparent incomplete penetrance in familial cases of IHH are difficult to...

2015
Vincenza Ciaramella Rosanna Chianese Paolo Pariante Silvia Fasano Riccardo Pierantoni Rosaria Meccariello

Hypothalamic Gonadotropin Releasing Hormone (GnRH), via GnRH receptor (GnRHR), is the main actor in the control of reproduction, in that it induces the biosynthesis and the release of pituitary gonadotropins, which in turn promote steroidogenesis and gametogenesis in both sexes. Extrabrain functions of GnRH have been extensively described in the past decades and, in males, local GnRH activity p...

Journal: :Biology of reproduction 2015
Ivana Bjelobaba Marija M Janjic Marek Kucka Stanko S Stojilkovic

The most obvious functional differences between mammalian males and females are related to the control of reproductive physiology and include patterns of GnRH and gonadotropin release, the timing of puberty, sexual and social behavior, and the regulation of food intake and body weight. Using the rat as the best-studied mammalian model for maturation, we examined the expression of major anterior...

Journal: :Developmental dynamics : an official publication of the American Association of Anatomists 2008
Geng Tian Umashankar Singh Yang Yu Buffy S Ellsworth Myriam Hemberger Rudolf Geyer M David Stewart Richard R Behringer Reinald Fundele

The LIM homeobox containing genes of the LIM-3 group, Lhx3 and Lhx4, are critical for normal development. Both genes are involved in the formation of the pituitary and the motoneuron system and loss of either gene causes perinatal lethality. Previous studies had shown that Lhx3 is overexpressed in hyperplastic placentas of mouse interspecies hybrids. To determine the role of LHX3 in the mouse p...

Journal: :Endocrine-related cancer 2006
Ki-Yon Kim Kyung-Chul Choi Nelly Auersperg Peter C K Leung

In our previous studies, we demonstrated that ERK1/2 (extracellular signal-regulated protein kinase) and p38 MAPK (mitogen-activated protein kinase) are required for gonadotropin-releasing hormone (GnRH)-II-induced anti-proliferation of ovarian cancer cells. In the present study, we examined the role of the GnRH-I receptor, as well as the activation of protein kinase C (PKC), in the anti-prolif...

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