Ena-DATASET-2LF-23-03-2015-13:33:12:753-603 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001001303 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Gene alteration analysis on 121 GH-producing pituitary adenomas and non-target proteomics analysis with RNA sequencing analysis on 45 non-functioning pituitary adenomas (NFPAs) and 60 growth hormone (GH)-producing pituitary adenomas were performed, and integrated these results with the clinical characteristics of acromegaly. We attempted to identify key players involved in shaping the clinical features of acromegaly, especially those related to treatment efficacy. This project revealed the importance of GNAS mutations in terms of clinical and biochemical characteristics and identified novel molecules that may be involved in the responsiveness to medical treatment.
2022-11-24 | PXD036604 | JPOST Repository
Project description:The knowledge regarding the reproductive-status-related changes occurring within the transcriptome of the porcine pituitary is limited. This study aimed to compare pituitary gland gene expression profiles of pigs during the maternal recognition of pregnancy period (days 12-13 of pregnancy) with pigs during the respective days of the estrous cycle using a microarray approach. Analysis indicated 482 differentially expressed genes (DEGs) with a FC ≥ 1.5 (p < 0.05) in the pituitary of pregnant vs. estrous-cyclic pigs. Among them, 68 were up-regulated and 414 were down-regulated. The evaluated DEGs were annotated to 39 gene ontology (GO) biological processes terms, 13 GO cellular components terms, and 10 GO molecular function terms. Among the evaluated DEGs were selected genes coding for proteins potentially involved in the regulation of early pregnancy in pigs and used for gene interaction analysis and validation of microarray results. Analysis of the relationships among DEGs during maternal recognition of pregnancy showed that some of them are connected with, i.e., TGFβ signaling pathway, follicle-stimulating hormone, prolactin, and growth hormone synthesis or activity, adipocytokines responsivity, angiogenesis, immune response, prostaglandin synthesis and inter-pituitary cell to cell interactions. The findings expand the knowledge regarding the molecular mechanisms appearing in the pituitary in pigs during the maternal recognition period of pregnancy.
2021-03-11 | GSE168615 | GEO
Project description:The obesity incidence is increasing worldwide with the urgent need to identify new therapeutics. Obesity is associated with endocrine alterations, arising from changes in the hypothalamic-pituitary hormone axes, leading to reproductive disorders, altered basal metabolism and stress hormone production. The focus of this study was to determine if diet induced obesity alters pituitary gland plasticity, gene expression and hormone production and secretion. Here we performed single cell RNA-sequencing (scRNA-seq) on pituitary glands from control (CTRL) and high fat diet (HFD) fed males and looked at cell type population dynamics and gene expression changes between HFD and CTRL for all hormone-producing cell types. Our study revealed diet-induced changes in pituitary gland plasticity and hormone production that may play a role in altered hormone production in obese patients and consequently, dysregulation of pituitary gland homeostasis.
2024-01-24 | GSE240022 | GEO
Project description:Patients with Celiac Disease, first degree relatives of celiac patients and control groups displayed significant differential gene expression.
2019-03-21 | GSE112102 | GEO
Project description:Mutations in the pituitary specific transcription factor Prophet of Pit-1 (PROP1) are the most common genetic etiology of combined pituitary hormone deficiency (CPHD). CPHD is associated with short stature, attributable to growth hormone deficiency and/or thyroid stimulating hormone deficiency, as well as hypothyroidism and infertility. Pathogenic lesions impair pituitary development and differentiation of endocrine cells. We performed single-cell RNA sequencing of pituitary cells from a wild-type and a Prop1-mutant P4 female to elucidate population-specific differential gene expression. We observed a Smoc2+ve population that expressed low Sox2, which trajectory analyses suggest are a transitional cell state as stem cells differentiate into endocrine cells. We also detected ectopic expression of Sox21 in these cells in the Prop1df/df mutant. Prop1-mutant mice are known to overexpress Pou3f4, which we now show to be also enriched in this Smoc2+ve population. We sought to elucidate the role of Pou3f4 during pituitary development and to determine the contributions of Pou3f4 upregulation to pituitary disease by utilizing double-mutant mice lacking both Prop1 and Pou3f4. However, our data showed that Pou3f4 is not required for normal pituitary development and function. Double mutants further demonstrated that the upregulation of Pou3f4 was not causative for the overexpression of Sox21. These data indicate loss of Pou3f4 is not a potential cause of CPHD, and further studies may investigate the functional consequence of upregulation of Pou3f4 and Sox21, if any, in the novel Smoc2+ve cell population.
2024-08-03 | GSE273683 | GEO
Project description:We profiled the somatic landscape of 21 growth hormone (GH) -secreting pituitary adenomas using somatic copy-number alteration (SCNA), whole-genome sequencing (WGS), bisulfate sequencing, and transcriptome approaches. See details in Valimaki et al. Genetic and epigenetic characterization of growth hormone (GH) - secreting pituitary tumors. Manuscript in preparation, 2019.
| EGAS00001003488 | EGA
Project description:X-linked acrogigantism (X-LAG) is a rare form of pituitary gigantism that is associated with growth hormone (GH) and prolactin-secreting pituitary adenomas/pituitary neuroendocrine tumors (PitNETs) that develop in infancy. It is caused by a duplication on chromosome Xq26.3 that leads to misexpression of the gene GPR101, a constitutively-active stimulator of pituitary GH and prolactin secretion. GPR101 normally exists within its own topologically associating domain (TAD) and is insulated from surrounding regulatory elements. X-LAG is a TADopathy in which the duplication disrupts a conserved TAD border, leading to a neoTAD in which ectopic enhancers drive GPR101 over-expression causing gigantism. Here we trace the full diagnostic and therapeutic pathway of a female patient with X-LAG from 4C-seq studies demonstrating the neoTAD through to medical and surgical interventions and detailed tumor histopathology. The complex nature of treating young children with X-LAG is illustrated, including the achievement of hormonal control using a combination of neurosurgery and adult doses of first-generation somatostatin analogs.
2024-01-23 | GSE249129 | GEO
Project description:We used microarrays to assess differences in gene expression associated with single nucleotide polymorphisms occurred in three genes, PMA1, MDS3 and MKT1, as compared to a reference strain devoid of any mutations (Progenitor strain). Haploid yeast strains carrying no evolved alleles (progenitor - reference strain) or different combinations of the studied evolved alleles (PMA1e, MDS3e and MKT1e) and devoid of all other evolved alleles were used. The following genotypes were studied: ancestral, MDS3e, MKT1e, MDS3e_MKT1e and PMA1e_MKT1e (2 replicates each). Cells of the studied strains were grown overnight on liquid yeast peptone dextrose (YPD) medium and used to inoculate defined low glucose medium.
2011-05-20 | E-GEOD-29353 | biostudies-arrayexpress
Project description:Germline mutations in BRAF and other components of the Mitogen-Activated Protein Kinase (MAPK) pathway are associated with the congenital syndromes collectively known as RASopathies. Here, we report the association of Septo-Optic Dysplasia (SOD) including hypopituitarism and Cardio-Facio-Cutaneous (CFC) syndrome in patients harboring mutations in BRAF. Phosphoproteomic analyses demonstrate that these genetic variants are gain-of-function mutations leading to activation of the MAPK pathway. Activation of the MAPK pathway by conditional expression of the BrafV600E/+ allele, or the knock-in BrafQ241R/+ allele (corresponding to the most frequent human CFC-causing mutation, BRAFp.Q257R), leads to abnormal cell lineage determination and terminal differentiation of hormone-producing cells, causing hypopituitarism. Expression of the BrafV600E/+ allele in embryonic pituitary progenitors leads to an increased expression in cell cycle inhibitors, cell growth arrest and apoptosis but not tumour formation. Our findings show a critical role for BRAF in hypothalamo-pituitary-axis development both in mouse and human and implicate mutations found in RASopathies as a cause of endocrine deficiencies in humans
2020-11-17 | PXD018190 | Pride
Project description:Neotyphodium coenophialum is an endophytic fungus that infects most tall fescue (Festuca arundinacea) pastures that are commonly used in animal grazing systems in the United States. Beef cattle grazing such pastures are impaired in health and production performance, resulting in a large economic loss in US food-animal production systems. Based on clinical and biochemical blood analyte profiles, hepatic targeted gene and protein analyses, and hepatic transcriptomic profiling, microarray analysis using the WT Btau 4.0 Array (version 1.0, Affymetrix, Inc., Santa Clara, CA) was conducted to determine if grazing endophyte-infected tall fescue pastures affects pituitary gene expression profiles of growing beef steers. The specific overall hypothesis tested was that grazing high endophyte-infected pasture would alter the pituitary genomic expression profiles of the same growing steers, especially genes involved in production and secretion of prolactin, growth hormone, thyroid stimulating hormone, and adrenocorticotropic hormone. Sixteen steers were assigned to graze either a low toxic endophyte tall fescue-mixed grass (LE treatment, 5.7 ha, n = 8) or a high toxic endophyte infected tall fescue (HE treatment, 5.7 ha, n = 8) pasture located in the University of Kentucky Agricultural Research Center. All steers had ad libitum access to fresh water, an industry standard mineral-vitamin supplement, and grazed respective pastures for 89 to 105 days. Whole pituitaries were collected for RNA extraction and microarray analysis.
2014-10-23 | E-GEOD-62570 | biostudies-arrayexpress