A5003840414- Hypothalamic control of reproductive hormones
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Ovarian function and disorders
- Sexual Differentiation and Disorders
- Coenzyme Q10 studies and effects
- Growth Hormone and Insulin-like Growth Factors
- Vitamin K Research Studies
- Hormonal and reproductive studies
- Genomics and Chromatin Dynamics
- Agricultural safety and regulations
- Plant Reproductive Biology
- Blood Pressure and Hypertension Studies
- Genetic Associations and Epidemiology
- Fibroblast Growth Factor Research
- Genetic Mapping and Diversity in Plants and Animals
- Regulation of Appetite and Obesity
- Reproductive Biology and Fertility
- Gender Studies in Language
- Healthcare and Venom Research
- Menstrual Health and Disorders
- Biochemical effects in animals
- COVID-19 Clinical Research Studies
- Child and Adolescent Health
- Prostate Cancer Treatment and Research
- Prostate Cancer Diagnosis and Treatment
Massachusetts General Hospital
2015-2024
Harvard University
2013-2024
University of Patras
2016-2024
AHEPA University Hospital
2016-2022
General University Hospital of Patras
2019
Mount Auburn Hospital
2017-2019
Reproductive Science Center
2019
Aristotle University of Thessaloniki
2004-2019
Abstract Background Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic and environmental risk factors that disproportionately afflicts communities of color. Leveraging existing large-scale genome-wide association studies (GWAS), polygenic scores (PRS) have shown promise to complement established clinical intervention paradigms, improve early diagnosis prevention T2D. However, date, T2D PRS been most widely developed validated in individuals European descent. Comprehensive...
Abstract Context The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined. Objective To determine the role copy number variants (CNVs) in IHH pathogenicity and define their phenotypic spectrum. Methods Exome sequencing (ES) data probands (n = 1394) (Kallmann syndrome [IHH with anosmia; KS], n 706; normosmic [nIHH], 688) family members 1092) at Reproductive Endocrine Unit Center for Genomic Medicine Massachusetts General Hospital were analyzed...
Activation of fibroblast growth factor receptor 1 (FGFR1) signaling improves the metabolic health animals and humans, while inactivation leads to diabetes in mice. Direct human genetic evidence for role FGFR1 has not been fully established.
Abstract Context Kallmann syndrome (KS) is a rare, genetically heterogeneous Mendelian disorder. Structural defects in KS patients have helped define the genetic architecture of gonadotropin-releasing hormone (GnRH) neuronal development this condition. Objective Examine functional role novel structural defect affecting long noncoding RNA (lncRNA), RMST, found patient. Design Whole genome sequencing, induced pluripotent stem cells and derived neural crest (NCC) from patient were contrasted...
Pediatric hypertension is urgently increasing in Greece. The purpose of this study to record the prevalence schoolchildren and relate dietary minerals blood pressure (BP).308 males 298 females, aged 7-15 years, from 10 schools Northern Greece participated study. BP were measured all children. Twenty-seven 12.3% boys 21.2 15.1% girls diagnosed with prehypertension systolic hypertension, respectively. For diastolic BP, 19 13.3% 21.5 Systolic was significantly positively associated age (beta:...
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing two independent cohorts IHH patients identified 12 rare missense variants in POU6F2 15 patients. encodes distinct isoforms. In adult mouse, expression both isoform1 isoform2 was detected brain, pituitary, gonads. However, only mouse primary GnRH cells three immortalized cell...
Even though polycystic ovary syndrome (PCOS) is a common reproductive disorder affecting young women, its impact on their sexual health not well known.To examine the different aspects of female sexuality in women with PCOS and attempt to associate hormonal changes ovulatory status function.Anthropometric characteristics, levels function based Female Sexual Function Index (FSFI) questionnaire were assessed 76 133 matched controls.Sexual significantly impaired PCOS.Women demonstrated lower...
Abstract The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination assortment cellular networks, all converging on GnRH neurons. These neurons have a complex life history, migrating mainly from olfactory placode into hypothalamus, where secreted and acts as master regulator hypothalamic-pituitary-gonadal axis. Much what we know about biology has been aided by discoveries made using human disease model isolated deficiency (IGD), family rare...
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a rare disease with wide spectrum of reproductive and non-reproductive clinical characteristics. Apart from the phenotypic heterogeneity, IGD also highly genetically heterogeneous >35 genes implicated in disease. Despite this genetic enrichment specific subpopulations has been described. We have previously described low prevalence variation Greek cohort discovered utilization Sanger sequencing 14 known genes. Here, we...
Abstract Context Isolated hypogonadotropic hypogonadism (IHH) is phenotypically and genetically heterogeneous. Objective This work aimed to determine the correlation between genotypic severity with pubertal neuroendocrine phenotypes in IHH men. Methods A retrospective study was conducted (1980-2020) examining olfaction (Kallmann syndrome [KS] vs normosmic [nHH]), baseline testicular volume (absent partial puberty), profiling (pulsatile apulsatile luteinizing hormone [LH] secretion), genetic...
Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from large, well-phenotyped cohort of patients with idiopathic hypogonadism (IHH) for pathogenic to investigate the underlying and its associated phenotypes. identified 8 IHH individuals harboring heterozygous variable These variant proteins were tested in vitro determine whether causal...
Abstract Context Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, with disease loci identified from genome-wide association studies (GWAS) having largely unknown relationships to pathogenesis. Objective This work aimed group PCOS GWAS into genetic clusters associated pathophysiology. Methods Cluster analysis was performed for 60 PCOS-associated variants and 49 traits using summary statistics. Cluster-specific partitioned polygenic scores (pPS) were generated tested clinical...
An 11-year-old boy with Henoch-Schonlein purpura complicated by hypertension-induced encephalopathy is reported. Steroid therapy (oral prednisolone 2 mg/kg per day) was started immediately after diagnosis because of gastrointestinal involvement. A few days later the patient developed hypertension followed generalized tonic-clonic seizures. peripheral lesion in posterior gray and white matter seen on magnetic resonance imaging. The nature location lesions normalization patient's imaging...