A5016398650- Thyroid Disorders and Treatments
- Hypothalamic control of reproductive hormones
- Ovarian function and disorders
- Sexual Differentiation and Disorders
- Vitamin D Research Studies
- Reproductive Biology and Fertility
- Thyroid Cancer Diagnosis and Treatment
- Hormonal and reproductive studies
- Tissue Engineering and Regenerative Medicine
- Diabetes Management and Research
- Congenital heart defects research
- Pancreatic function and diabetes
- GDF15 and Related Biomarkers
- Cancer, Hypoxia, and Metabolism
- Vascular Malformations and Hemangiomas
- Tuberous Sclerosis Complex Research
- Organ Donation and Transplantation
- Acute Kidney Injury Research
- Pituitary Gland Disorders and Treatments
- Neuroendocrine regulation and behavior
- Genetic Syndromes and Imprinting
- Medicinal Plant Pharmacodynamics Research
- Pregnancy and Medication Impact
- Plant Reproductive Biology
- TGF-β signaling in diseases
University of Pisa
2003-2022
Azienda Ospedaliera Universitaria Pisana
2021
Massachusetts General Hospital
2010-2013
Reproductive Science Center
2012
Brigham and Women's Hospital
2011
Harvard University
2008
Fondazione Stella Maris
2006
Abstract Context: Mutations in TAC3 and TACR3 (encoding neurokinin B its receptor) have been identified Turkish patients with idiopathic hypogonadotropic hypogonadism (IHH), but broader populations not yet tested genotype-phenotype correlations established. Objective: A broad cohort of normosmic IHH probands was screened for mutations TAC3/TACR3 to evaluate the prevalence such define genotype/phenotype relationships. Design Setting: The study consisted sequencing TAC3/TACR3, vitro functional...
Background The type 2 iodothyronine deiodinase (D2) converts the pro-hormone thyroxine into T3 within target tissues. D2 is essential for a full thermogenic response of brown adipose tissue (BAT), and mice with disrupted Dio2 gene (D2KO) have an impaired to cold. BAT also activated by overfeeding. Methodology/Principal Findings After 6-weeks HFD feeding D2KO gained 5.6% more body weight had 28% tissue. Oxygen consumption (V02) was not different between genotypes, but increased respiratory...
A broad spectrum of GnRH-deficient phenotypes has been identified in individuals with both mono- and biallelic GNRHR mutations. The objective the study was to determine correlation between severity reproductive phenotype(s) number functional rare sequence variants GNRHR. Eight hundred sixty-three probands different forms GnRH deficiency, 46 family members 422 controls were screened for 70 subjects (32 patients 38 members) harboring mutations divided into four groups (G1-G4) based on...
Summary Objective Genetic analysis of the TSH receptor gene in seven subjects with subclinical hypothyroidism (SH), whom diagnosis autoimmune thyroid disease had been excluded by laboratory and instrumental techniques currently available. Patients Three families where different members (2 children 5 adults) affected SH were studied. Genomic DNA was extracted from peripheral lymphocytes entire coding sequence TSHr sequenced. pSVL‐TSHr construct harbouring a Q8fsX62 insertion obtained...
Premature ovarian insufficiency (POI) is an defect characterized by primary or secondary amenorrhea, hypergonadotropism and hypoestrogenism which occurs before the age of 40 years with a major genetic component. In this study we performed clinical evaluation analysis group 18 patients POI. The involved consecutive women Karyotiping for research mutations in GDF9 (Growth Differentation Factor 9) BMP15 (Bone morphogentic protein 15) genes FMR1 (Fragile X Mental Retardation 1) premutation were...
The MURCS association [Müllerian Duct aplasia or hypoplasia (M), unilateral renal agenesis (UR) and cervicothoracic somite dysplasia (CS)] manifests itself as Müllerian hypoplasia, dysplasia. We report on a 22-year-old woman with bicornuate uterus, right agenesis, C2–C3 vertebral fusion (MURCS association) 22q11.2 deletion. Angio-MRI revealed the aberrant origin of arch arteries. Hashimoto thyroiditis, micropolycystic ovaries dermoid cyst in ovary mild osteoporosis were also diagnosed....
Neurokinin B (NKB) and its G-protein-coupled receptor, NK3R, have been implicated in the neuroendocrine control of GnRH release; however, little is known about structure-function relationship this ligand-receptor pair. Moreover, loss-of-function NK3R mutations cause deficiency humans. Using missense we previously identified patients with deficiency, demonstrate that Y256H Y315C fifth sixth transmembrane domains (TM5 TM6), resulted reduced whole-cell (79.3±7.2%) or plasma membrane (67.3±7.3%)...
Summary background Premature ovarian failure (POF) is defined by cessation of function after puberty and before the age 40. The syndrome characterized amenorrhoea, oestrogen deficiency elevated levels gonadotrophins. Autoimmunity has been proposed as a mechanism for some cases destruction or malfunction follicles. POF often associated with type I II polyglandular autoimmune syndromes. It also postulated that receptors such LH FSH might become targets blocking antibodies could be cause...
Physiologically regulated insulin secretion and euglycemia are achievable in type 1 diabetes (T1D) by islet or pancreas transplantation. However, transplant alone (PTA) remains a debated approach, with uncertainties on its relative benefits risks. We determined the actual long-term (10 y) efficacy safety of PTA carefully characterized T1D subjects.
Subcapsular renal hematoma (SRH) is a challenging condition, which may jeopardize kidney function or constitute life-threatening event. This particularly true in single-kidney patients, such as kidney-transplant recipients. SRH exert an excessive pressure on the surrounding parenchyma, thus resulting hypoperfusion and ischemia, with high risk of acute failure graft loss. Moreover, precede overt rupture subsequent hemorrhage hemodynamic instability. The indication to interventional management...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
ABSTRACT Context Mutations in TAC3 and TACR3 (encoding neurokinin B its receptor) have been identified Turkish patients with hypogonadotropic hypogonadism (IHH), but broader populations not yet tested genotype-phenotype correlations established. Objective A broad cohort of normosmic IHH probands was screened for mutations TAC3/TACR3 to evaluate the prevalence such define genotype/phenotype relationships. Design Sequencing TAC3/TACR3; vitro functional assays, neuroendocrine phenotyping....