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https://www.readbyqxmd.com/read/27931036/clinical-exome-sequencing-reveals-mkrn3-pathogenic-variants-in-familial-and-nonfamilial-idiopathic-central-precocious-puberty
#1
Nelmar Valentina Ortiz-Cabrera, Rosa Riveiro-Álvarez, Miguel Ángel López-Martínez, Pilar Pérez-Segura, Isabel Aragón-Gómez, María José Trujillo-Tiebas, Leandro Soriano-Guillén
BACKGROUND/AIMS: Idiopathic central precocious puberty (ICPP) is the premature activation of the hypothalamic-pituitary-gonadal axis in the absence of organic disease. Up to now, just gain-of-function mutations of KISS1/KISS1R and loss-of-function mutations of the maternally imprinted gene MKRN3 are the known genetic causes of ICPP. Our intention is to evaluate variants present in genes related to the pubertal onset pathway that could act as disease-causing or predisposing variants. METHODS: We studied the clinical exome of 20 patients diagnosed with ICPP using the Illumina platform...
December 9, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27914954/molecular-cloning-characterization-and-expression-profile-of-kisspeptin1-and-kisspeptin1-receptor-at-brain-pituitary-gonad-bpg-axis-of-golden-mahseer-tor-putitora-hamilton-1822-during-gonadal-development
#2
Neetu Shahi, Atul Kumar Singh, Monalisa Sahoo, Sumanta Kumar Mallik, Dimpal Thakuria
Complete cDNA sequences of kiss1 (gmkiss1) and its receptor kiss1r (gmkiss1r) were cloned and characterized from brain tissue of adult golden mahseer (Tor putitora). Thereafter, quantification of gmkiss1 and gmkiss1r mRNA expression in brain-pituitary-gonad (BPG) axis of male and female golden mahseer was carried out using quantitative real-time (qRT)-PCR assay during an annual reproductive cycle, at different gonadal development stages. The gmkiss1 cDNA was 508bp, with 330bp open reading frame (ORF), encoding a precursor protein of 109 amino acids, whereas gmkiss1r cDNA was 1383bp with an ORF of 1004bp, which encodes a 334 amino acid protein residue...
November 30, 2016: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/27902923/kisspeptin-expression-is-decreased-in-the-arcuate-nucleus-of-hypothyroid-female-rats-with-irregular-estrus-cycles
#3
Yuji Tomori, Ken Takumi, Norio Iijima, Shinro Takai, Hitoshi Ozawa
Insufficiency of thyroid hormones inhibits gonadotropin release and results in dysregulation of reproductive function, although the precise mechanism of this disrupted gonadotropin secretion remains unclear. Kisspeptin is a neuropeptide that strongly stimulates gonadotropin secretion and plays an important role in reproductive function. To examine the involvement of kisspeptin in the dysregulation of gonadotropin secretion in hypothyroidism, we investigated Kiss1 mRNA expression and kisspeptin immunoreactivity in the hypothalamus of female rats treated with propylthiouracil (PTU)...
November 27, 2016: Neuroscience Research
https://www.readbyqxmd.com/read/27901187/interactions-between-prolactin-and-kisspeptin-to-control-reproduction
#4
Jose Donato, Renata Frazão
Prolactin is best known for its effects of stimulating mammary gland development and lactogenesis. However, prolactin is a pleiotropic hormone that is able to affect several physiological functions, including fertility. Prolactin receptors (PRLRs) are widely expressed in several tissues, including several brain regions and reproductive tract organs. Upon activation, PRLRs may exert prolactin's functions through several signaling pathways, although the recruitment of the signal transducer and activator of transcription 5 causes most of the known effects of prolactin...
November 24, 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27887945/kisspeptin-system-in-pejerrey-fish-odontesthes-bonariensis-characterization-and-gene-expression-pattern-during-early-developmental-stages
#5
M Oswaldo Tovar Bohórquez, Alejandro S Mechaly, Lily C Hughes, Daniela Campanella, Guillermo Ortí, Luis F Canosa, Gustavo M Somoza
In vertebrates, kisspeptins and their receptors are known to be related to puberty onset and gonadal maturation, however, there are few studies concerning their role in early development. Here, we characterize the kisspeptin system in the pejerrey, Odontesthes bonariensis, a fish with strong temperature-dependent sex determination. We reconstructed the phylogenetic history of the two ligands (kiss1 and kiss 2) and two receptors (kissr2 and kissr3) in pejerrey in the context of recent classifications of bony fishes, determined their tissue distribution and documented the early expression pattern of these ligands and receptors...
November 23, 2016: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
https://www.readbyqxmd.com/read/27861355/expression-of-preoperative-kiss1-gene-in-tumor-tissue-with-epithelial-ovarian-cancer-and-its-prognostic-value
#6
Fang Cao, Liping Chen, Manhua Liu, Weiwei Lin, Jinlong Ji, Jun You, Fenghai Qiao, Hongbin Liu
Our study aimed to elucidate the role of Kisspeptin (KISS1) in tumor tissues of patients with epithelial ovarian cancer (EOC) and investigate the prognostic value of this biomarker.Forty EOC patients and 20 uterine fibroids female patients with healthy ovaries undergoing cytoreductive surgery between January 2010 and January 2014 in our hospital were enrolled in this study. KISS1 expression in tumor and normal tissues was detected. Correlations between clinic-pathologic variables and KISS1 expression in EOC tissues and the prognostic value of KISS1 for overall survival were evaluated...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27859771/engineering-a-gene-silencing-viral-construct-that-targets-the-cat-hypothalamus-to-induce-permanent-sterility-an-update
#7
G A Dissen, K Adachi, A Lomniczi, T Chatkupt, B L Davidson, H Nakai, S R Ojeda
The intent of this contribution is to provide an update of the progress we have made towards developing a method/treatment to permanently sterilize cats. Our approach employs two complementary methodologies: RNA interference (RNAi) to silence genes involved in the central control of reproduction and a virus-based gene therapy system intended to deliver RNAi selectively to the hypothalamus (where these genes are expressed) via the systemic administration of modified viruses. We selected the hypothalamus because it contains neurons expressing Kiss1 and Tac3, two genes essential for reproduction and fertility...
November 17, 2016: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27856623/kisspeptin-level-in-the-aging-ovary-is-regulated-by-the-sympathetic-nervous-system
#8
Daniela Fernandois, Gonzalo Cruz, Eun Kyung Na, Hernán E Lara, Alfonso H Paredes
Previous work has demonstrated that the increase in the activity of sympathetic nerves, which occurs during the subfertility period in female rats, causes an increase in follicular cyst development and impairs follicular development. In addition, the increase in ovarian sympathetic activity of aged rats correlates with an increased expression of kisspeptin (KISS1) in the ovary. This increase in KISS1 could participate in the decrease in follicular development that occurs during the subfertility period. We aimed to determine whether the blockade of ovarian sympathetic tone prevents the increase in KISS1 expression during reproductive aging and improves follicular development...
January 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/27805048/kisspeptin-and-rfrp-3-differentially-regulate-food-intake-and-metabolic-neuropeptides-in-the-female-desert-jerboa
#9
Rajae Talbi, Marie-Pierre Laran-Chich, Rabia Magoul, Seloua El Ouezzani, Valérie Simonneaux
Jerboas are wild rodents exhibiting exceptional adaptation to their desert environment. Under harsh autumn conditions, they shut down reproduction, increase body weight and hibernate, while during spring they become sexually active even under negative energy-balance. We recently reported that these rhythms are associated with synchronized changes in genes expressing reproductive (Kiss1, Rfrp) and metabolic (Npy and Pomc) peptides, raising the hypothesis of coordinated seasonal regulation of both functions. Here we analyzed whether kisspeptin and RFRP-3 regulate food-intake in parallel to their established reproductive functions...
November 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27779452/ipsc-model-of-pulmonary-arterial-hypertension-reveals-novel-gene-expression-and-patient-specificity
#10
Silin Sa, Mingxia Gu, James Chappell, Ning-Yi Shao, Mohamed Ameen, Kathryn A T Elliott, Dan Li, Fabian Grubert, Caiyun G Li, Shalina Taylor, Aiqin Cao, Yu Ma, Ryan Fong, Long Nguyen, Joseph C Wu, Michael P Snyder, Marlene Rabinovitch
RATIONALE: Idiopathic or heritable pulmonary arterial hypertension is characterized by loss and obliteration of lung vasculature. Endothelial cell dysfunction is pivotal to the pathophysiology but different causal mechanisms may reflect a need for patient-tailored therapies. OBJECTIVES: Endothelial cells differentiated from induced pluripotent stem cells were compared to pulmonary arterial endothelial cells from the same patients with idiopathic or heritable pulmonary arterial hypertension, to determine whether they shared functional abnormalities and altered gene expression patterns, that differed from those in unused donor cells...
October 25, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27774662/kisspeptin-10-and-the-g-protein-coupled-receptor-54-are-differentially-expressed-in-the-canine-pregnant-uterus-and-trophoblast-cells
#11
S Schäfer-Somi, S S Ay, D Kaya, M Sözmen, H B Beceriklisoy, A R Ağaoğlu, M Fındık, T van Haeften, S Aslan
Uterine tissue was collected from bitches after ovariohysterectomy at different times after ovulation. Samples were assigned to four groups: metestrous non-pregnant, day 10-12, n = 4; pre-implantation, day 10-12, n = 9; post-implantation, day 18-25, n = 13; mid-gestation, day 30-40, n = 7. RT-qPCR detection was performed for kiss1 and the G protein-coupled receptor 54 (GPR54, specific receptor for kisspeptin). In addition, immunohistochemistry was performed for detection of kisspeptin-10 (KP-10), GPR54, as well as pan-cytokeratin and vimentin...
October 23, 2016: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27774658/the-localization-of-kisspeptin-and-kisspeptin-receptor-in-the-canine-ovary-during-different-stages-of-the-reproductive-cycle
#12
M E Cielesh, B M McGrath, C J Scott, S T Norman, C P Stephen
Kisspeptin is a neuropeptide involved in the hypothalamic regulation of reproduction in many species. Recent studies have revealed kisspeptin within the ovaries of rats, Siberian hamsters and humans, indicating a local role in reproduction. However, the role of kisspeptin in the ovary is poorly understood in the bitch. This study investigated the presence and location of kisspeptin protein (KISS1) and kisspeptin receptors (KISS1R) in the canine ovary during different stages of the reproductive cycle (pre-pubertal, anoestrus and cycling) by means of immunohistochemical staining...
October 23, 2016: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27754872/expanding-the-role-of-tachykinins-in-the-neuroendocrine-control-of-reproduction
#13
Chrysanthi Fergani, Victor Navarro
Reproductive function is driven by the hormonal interplay between the gonads and brain-pituitary axis. Gonadotropin-releasing hormone (GnRH) is released in a pulsatile manner, which is critical for the attainment and maintenance of fertility, however, GnRH neurons lack the ability to directly respond to most regulatory factors, and a hierarchical upstream neuronal network governs its secretion. We and others proposed a model in which Kiss1 neurons in the arcuate nucleus (ARC), so called KNDy neurons, release kisspeptin (a potent GnRH secretagogue) in a pulsatile manner to drive GnRH pulses under the coordinated autosynaptic action of its cotransmitters, the tachykinin neurokinin B (NKB, stimulatory) and dynorphin (inhibitory)...
October 17, 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/27751931/blockage-of-neonatal-leptin-signaling-induces-changes-in-the-hypothalamus-associated-with-delayed-pubertal-onset-and-modifications-in-neuropeptide-expression-during-adulthood-in-male-rats
#14
Virginia Mela, Sara Jimenez, Alejandra Freire-Regatillo, Vicente Barrios, Eva-María Marco, Ana-Belén Lopez-Rodriguez, Jesús Argente, María-Paz Viveros, Julie A Chowen
The neonatal leptin surge, occurring from postnatal day (PND) 5 to 13 and peaking at PND9 in rodents, is important for the development of neuroendocrine circuits involved in metabolic control and reproductive function. We previously demonstrated that treatment with a leptin antagonist from PND 5 to 9, coincident with peak leptin levels in the neonatal surge, modified trophic factors and markers of cell turnover and neuronal maturation in the hypothalamus of peri-pubertal rats. The kisspeptin system and metabolic neuropeptide and hormone levels were also modified...
December 2016: Peptides
https://www.readbyqxmd.com/read/27732087/ampk%C3%AE-2-in-kiss1-neurons-is-required-for-reproductive-adaptations-to-acute-metabolic-challenges-in-adult-female-mice
#15
Marcio A Torsoni, Beatriz C Borges, Jessica L Cote, Susan J Allen, Erica Mahany, David Garcia-Galiano, Carol F Elias
A temporary and reversible inhibition of the hypothalamo-pituitary-gonadal axis is adaptive when energy reserves are diminished, allowing individual survival and energy accumulation for eventual reproduction. The AMP-activated protein kinase (AMPK) works as a cellular sensor of the AMP to ATP ratio and ultimately of energy availability. Activation of AMPK suppresses ATP-consuming processes and stimulates ATP-producing pathways. The AMPK α2 catalytic subunit is expressed in multiple hypothalamic nuclei including those associated with reproductive control, ie, the anteroventral periventricular nucleus and the arcuate nucleus...
December 2016: Endocrinology
https://www.readbyqxmd.com/read/27688998/defining-a-novel-leptin-melanocortin-kisspeptin-pathway-involved-in-the-metabolic-control-of-puberty
#16
Maria Manfredi-Lozano, Juan Roa, Francisco Ruiz-Pino, Richard Piet, David Garcia-Galiano, Rafael Pineda, Aurora Zamora, Silvia Leon, Miguel A Sanchez-Garrido, Antonio Romero-Ruiz, Carlos Dieguez, Maria Jesus Vazquez, Allan E Herbison, Leonor Pinilla, Manuel Tena-Sempere
OBJECTIVE: Puberty is a key developmental phenomenon highly sensitive to metabolic modulation. Worrying trends of changes in the timing of puberty have been reported in humans. These might be linked to the escalating prevalence of childhood obesity and could have deleterious impacts on later (cardio-metabolic) health, but their underlying mechanisms remain unsolved. The neuropeptide α-MSH, made by POMC neurons, plays a key role in energy homeostasis by mediating the actions of leptin and likely participates in the control of reproduction...
October 2016: Molecular Metabolism
https://www.readbyqxmd.com/read/27688161/prenatal-alcohol-exposure-and-pair-feeding-differentially-impact-puberty-and-reproductive-development-in-female-rats-role-of-the-kisspeptin-system
#17
Joanna Helena Sliwowska, Wendy L Comeau, Tamara S Bodnar, Linda Ellis, Joanne Weinberg
BACKGROUND: Reproductive maturation is initiated with the onset of puberty, which activates the hypothalamic-pituitary-gonadal axis and coincidences with increased expression of the hormone kisspeptin within the hypothalamus. Maturational events are sensitive to environmental factors, including alcohol, which is known to delay reproductive development. We hypothesized that, similar to alcohol's adverse effects during reproductive maturation, prenatal alcohol exposure (PAE) would alter pubertal markers, sex hormone profiles, and kisspeptin expression in the hypothalamus...
September 30, 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27688073/identification-of-genes-in-the-hypothalamus-pituitary-gonad-axis-in-the-brain-of-amur-sturgeons-acipenser-schrenckii-by-comparative-transcriptome-analysis-in-relation-to-kisspeptin-treatment
#18
Shubo Jin, Dajiang Sun, Qingkai Xi, Xiaoli Dong, Dan Song, Hongtuo Fu, Ying Zhang
Kisspeptin plays an important role in the reproduction and onset of puberty in vertebrates through stimulation of gonadotropin-releasing hormone (GnRH). However, the mechanisms whereby kisspeptin-related genes regulate sexual differentiation in teleosts are poorly understood. We aimed to study the relationship between the hypothalamus-pituitary-gonad (HPG) axis and sexual differentiation in relation to kisspeptin in the sturgeon Acipenser schrenckii. We performed comparative transcriptomic analysis of the brains of sturgeons treated with KISS1-10 during the gonadal sex-differentiation-sensitive period (170-210days post-hatching (dph)) using an Illumina sequencing platform...
December 20, 2016: Gene
https://www.readbyqxmd.com/read/27663274/visualization-of-kiss1-neuron-distribution-using-a-kiss1-cre-transgenic-mouse
#19
Shel Hwa Yeo, Victoria Kyle, Paul G Morris, Sophie Jackman, Lydia Sinnett-Smith, Maria Schacker, Chen Chen, William H Colledge
Kisspeptin neuropeptides are encoded by the Kiss1 gene and play a critical role in the regulation of the mammalian reproductive axis. Kiss1 neurons are found in two locations in the rodent hypothalamus; one in the arcuate (ARC) and another in the RP3V region which includes the anteroventral periventricular (AVPV) nucleus. Detailed mapping of the fibre distribution of Kiss1 neurons will help in understanding the action of these neurons in other regions of the brain. We have generated a transgenic mouse in which the Kiss1 coding region has been disrupted by a CRE-GFP transgene so that expression of the CRE recombinase protein is driven from the Kiss1 promoter...
September 24, 2016: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/27642097/possible-role-of-the-leptin-system-in-controlling-puberty-in-the-male-chub-mackerel-scomber-japonicus
#20
Hirofumi Ohga, Daisuke Hirata, Kojiro Matsumori, Hajime Kitano, Naoki Nagano, Akihiko Yamaguchi, Michiya Matsuyama
Leptin directly regulates kisspeptin neurons in the hypothalamus and gonadotropin secretion from the pituitary, making it a central player in the onset of mammalian puberty. Recently, we identified two leptin genes (lepa and lepb) and a single leptin receptor (lepr) in the marine perciform fish chub mackerel; however, the expression of these genes did not correlate with the expression of important reproductive genes or ovarian stage during female puberty. Here, we expand upon these initial observations by evaluating the expression of lepa, lepb, and lepr during pubertal transition and under differential feeding conditions in the male chub mackerel...
September 15, 2016: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
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