Publications: PROF Leonardo Guasti

( 2026 ) . Phenotypes of Vulnerability and Prognosis in Older Adults with Cardiovascular Disease . European Journal of Preventive Cardiology

Mariniello K, Pittaway JFH, Altieri B, Borges KS, Hadjidemetriou I, Ribeiro C, Ruiz‐Babot G, Tourigny DS et al. ( 2025 ) . Cover Image, Volume 45, Issue 6 . vol. 45 , is. 6 , American Association for the Advancement of Science (AAAS)

Read J, Delli V, Dunkel L, Santoni F, Prevot V, Guasti L, Chachlaki K, Howard S ( 2025 ) . Defective Nitric oxide pathway signalling - a link between premature birth and altered mini-puberty? . Endocrine Abstracts

Mariniello K, Pittaway JFH, Altieri B, Borges KS, Hadjidemetriou I, Ribeiro C, Ruiz‐Babot G, Tourigny DS et al. ( 2025 ) . Dlk1 is a novel adrenocortical stem/progenitor cell marker that predicts malignancy in adrenocortical carcinoma . Cancer Communications vol. 45 , ( 6 ) 663 - 668 .

d'Aniello F, Mariniello K, Al Sayed Y, Bhavsar K, Read JE, Guasti L, Howard SR ( 2024 ) . The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation . Hormone Research in Paediatrics vol. 99 , ( 1 ) 38 - 48 .

Gualtieri A, Gomez-Corral L, Nicholson J, Tan R ( 2024 ) . 12408 Efnb2 Controls Pituitary Gland Development By Regulating Proliferation Of Pituitary Stem Cells . Journal of the Endocrine Society vol. 8 , ( Supplement_1 )

Gualtieri A, Gomez-Corral L, Nicholson J, Tan R, Guasti L, Gaston-Massuet C ( 2024 ) . Efnb2 controls pituitary development by regulating the pituitary stem cell niche . Endocrine Abstracts

Ruiz-Babot G, Eceiza A, Abollo-Jiménez F, Malyukov M, Carlone DL, Borges K, Da Costa AR, Qarin S et al. ( 2023 ) . Generation of glucocorticoid-producing cells derived from human pluripotent stem cells . Cell Reports Methods vol. 3 , ( 11 )

Read J, Guasti L, Paganoni A, Howard S ( 2023 ) . Rare variants in the MECP2 gene in girls with central precocious puberty . Endocrine Abstracts

Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG et al. ( 2023 ) . Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study . The Lancet Diabetes & Endocrinology vol. 11 , ( 8 ) 545 - 554 .

Mistry JN, Silvennoinen S, Zaman F, Sävendahl L, Mariniello K, Hall C, Howard SR, Dunkel L et al. ( 2023 ) . The crosstalk between FGF21 and GH leads to weakened GH receptor signaling and IGF1 expression and is associated with growth failure in very preterm infants . Frontiers in Endocrinology vol. 14 ,

Williams JL, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J et al. ( 2023 ) . Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma . European Journal of Endocrinology vol. 188 , ( 1 )

Hasan S, Delicata F, Guasti L, Duranti C, Arcangeli A, Imbrici P, Pessia M ( 2022 ) . Locus Coeruleus Neurons’ Firing Pattern Is Regulated by ERG Voltage-Gated K+ Channels . International Journal of Molecular Sciences vol. 23 , ( 23 )

Canton A, Tinano F, Guasti L, Montenegro L, Argente J, Ryan F, Shears D, Melo ME et al. ( 2022 ) . RF14 | PSAT120 X-Linked Central Precocious Puberty Associated with MECP2 Defects . Journal of the Endocrine Society vol. 6 , ( Supplement_1 ) a643 - a644 .

Pittaway J, Mariniello K, Altieri B, Sbiera I, Sbiera S, Chung T-T, Abdel-Azziz T, Akker SA et al. ( 2022 ) . Delta-like non-canonical Notch ligand 1 (DLK1) - a novel biomarker in adrenocortical carcinoma . Endocrine Abstracts

Mariniello K, Pittaway J, Hadjidemetriou I, Borges K, Doroszko M, Doghman M, Rahman N ( 2022 ) . Delta-like non-canonical notch ligand 1 (DLK1)-expressing adrenocortical progenitor cells: role in adrenal turnover, remodeling and tumorigenesis in mice . Endocrine Abstracts

E RJ, Pinheiro-Machado CA, Tinano F, Guasti L, Ribeiro ML, Ryan F, Shears D, Paganoni A et al. ( 2022 ) . Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty . Endocrine Abstracts

Guasti L, Pittaway JFH ( 2022 ) . A new recipe for TARTs? One step closer in identifying the origin of testicular adrenal rest tumours . European Journal of Endocrinology vol. 187 , ( 6 ) c3 - c4 .

T S, G R-B, A D, A M, K M, CP C, MR B, L D et al. ( 2022 ) . Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty .

Mariniello K, Guasti L ( 2022 ) . DLK1 expressing cells mark a population of progenitor cells in the adrenal cortex and contribute to the zonation of the adrenal gland . Endocrine Abstracts

Williams J, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J et al. ( 2022 ) . Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma . Endocrine Abstracts

Guasti L ( 2022 ) . Novel therapeutic models for adrenal disorders . SEXUAL DEVELOPMENT . vol. 16 , 11 - 12 .

Canton A, Tinano F, Guasti L, Montenegro L, Ryan F, Shears D, Melo ME, Gomes L et al. ( 2022 ) . X-Linked Central Precocious Puberty Associated with <i>MECP2</i> defects . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 363 - 364 .

Saengkaew T, Ruiz-Babot G, David A, Mancini A, Mariniello K, Cabrera CP, Barnes MR, Dunkel L et al. ( 2021 ) . Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty . npj Genomic Medicine vol. 6 , ( 1 )

Howard S, Saengkaew T, Dunkel L, Guasti L ( 2021 ) . Dominant mutations in CCDC141 are found by ehole rxome dequencing to be a common cause of self-limited delayed puberty . Endocrine Abstracts

Pittaway JFH, Lipsos C, Guasti L ( 2021 ) . The role of delta-like non-canonical Notch ligand 1 (DLK1) in cancer . Endocrine Related Cancer vol. 28 , ( 12 ) r271 - r287 .

van der Grinten HLC, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, Flück CE, Guasti L et al. ( 2021 ) . Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management . Endocrine Reviews vol. 43 , ( 1 ) 91 - 159 .

Saengkaew T, Mancini A, Ruiz-Babot G, Cabrera CP, Barnes MR, Dunkel L, Guasti L, Howard S ( 2021 ) . Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty . Journal of the Endocrine Society vol. 5 , ( Supplement_1 ) a665 - a666 .

Mariniello K, Guasti L ( 2021 ) . Towards novel treatments for adrenal diseases: Cell- and gene therapy-based approaches . Molecular and Cellular Endocrinology vol. 524 ,

Caspani F, Campiotti L, Asteggiano R, Guasti L ( 2020 ) . Prevention of anthracycline-induced cardiotoxicity: a systematic review and meta-analysis . Internal and Emergency Medicine vol. 16 , ( 2 ) 477 - 486 .

Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJE, Leprovots M, Hadjidemetriou I et al. ( 2020 ) . LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling . JCI Insight vol. 5 , ( 11 )

Mariniello K, Rognoni E ( 2020 ) . SUN-LB43 DLK1 Expressing Cells Contribute to the Zonation of the Adrenal Gland . Journal of the Endocrine Society vol. 4 , ( Supplement_1 ) sun - lb43 .

Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Vassert G, Cariboni A et al. ( 2019 ) . Defects in LGR4 Wnt-[beta]-catenin signalling impair GnRH network development, leading to delayed puberty . Endocrine Abstracts

Mariniello K, Ruiz-Babot G, McGaugh EC, Nicholson JG, Gualtieri A, Gaston-Massuet C, Nostro MC, Guasti L ( 2019 ) . Stem Cells, Self-Renewal, and Lineage Commitment in the Endocrine System . Frontiers in Endocrinology vol. 10 ,

Gualtieri A, Nicholson J, Tan R, Jimenez F, Dattani M, Guasti L, Gaston-Massuet C ( 2019 ) . Efnb2 controls pituitary gland development by regulating proliferation of the pituitary stem/progenitor cells and EMT within the pituitary stem cell niche . Endocrine Abstracts

A M, SR H, CP C, MR B, A D, K W, S H, A L et al. ( 2019 ) . EAP1 regulation of GnRH promoter activity is important for human pubertal timing .

SR H, R O, A P, V C, A F, G R-B, LA M, CP C et al. ( 2019 ) . HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes .

Liew S-Y, Akker SA, Pittaway JFH ( 2019 ) . Glucocorticoid replacement therapies: past, present and future . Current Opinion in Endocrine and Metabolic Research vol. 8 , 152 - 159 .

Hadjidemetriou I, Mariniello K, Ruiz-Babot G, Pittaway J, Mancini A, Mariannis D, Gomez-Sanchez CE, Parvanta L et al. ( 2019 ) . DLK1/PREF1 marks a novel cell population in the human adrenal cortex . The Journal of Steroid Biochemistry and Molecular Biology vol. 193 ,

Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL, Chan LF ( 2019 ) . ACTH signalling and adrenal development: lessons from mouse models . Endocrine Connections vol. -1 , ( aop ) r122 - r130 .

Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L ( 2019 ) . Isolated glucocorticoid deficiency: Genetic causes and animal models . Journal of Steroid Biochemistry and Molecular Biology vol. 189 , 73 - 80 .

Papathomas TG, Sun N, Chortis V, Taylor AE, Arlt W, Richter S, Eisenhofer G, Ruiz-Babot G et al. ( 2019 ) . Novel methods in adrenal research: a metabolomics approach . Histochemistry and Cell Biology vol. 151 , ( 3 ) 201 - 216 .

Pittaway JFH ( 2019 ) . Pathobiology and genetics of adrenocortical carcinoma . Journal of Molecular Endocrinology vol. 62 , ( 2 ) r105 - r119 .

Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Heger S, Lomniczi A et al. ( 2019 ) . EAP1 regulation of GnRH promoter activity is important for human pubertal timing . Human Molecular Genetics vol. 28 , ( 8 ) 1357 - 1368 .

Saengkaew T, Mancini A, Ruiz-Babot G, Cabrera C, Barnes M, Dunkel L, Guasti L, Howard S ( 2019 ) . Defects in the GnRH Neuroendocrine Network Affect the Timing of Puberty . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 67 - 67 .

Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Vassart G, Cariboni A et al. ( 2019 ) . LGR 4-Wnt β-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 46 - 46 .

Guasti L ( 2019 ) . Novel interventions to treat adrenal insufficiency . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 8 - 9 .

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper CP, Burgos-Tirado N et al. ( 2018 ) . Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing . Journal of the Endocrine Society vol. 3 , ( 1 ) 201 - 221 .

Campiotti L, Sutter MB, Maresca AM, Grandi AM ( 2018 ) . Vitamin D and tyrosine kinase inhibitors in chronic myeloid leukemia . Internal and Emergency Medicine vol. 13 , ( 8 ) 1337 - 1339 .

G R-B, M B, I H, SJ A, DR T, L G, NF T, U S et al. ( 2018 ) . Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells .

De Ferrari GM, Perna GP, Nicosia A, Casu G, Cuccia C, Picco F, Strazzella C, Totaro R et al. ( 2018 ) . Available oral lipid-lowering agents could bring most high-risk patients to target . Journal of Cardiovascular Medicine vol. 19 , ( 9 ) 485 - 490 .

Guasti L, New SE, Hadjidemetriou I, Palmiero M ( 2018 ) . Plasticity of human adipose-derived stem cells - relevance to tissue repair . Int J Dev Biol vol. 62 , ( 6-7-8 ) 431 - 439 .

Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP et al. ( 2018 ) . HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes . The Journal of Clinical Endocrinology & Metabolism vol. 103 , ( 9 ) 3420 - 3429 .

Balyura M, Gelfgat E, Steenblock C, Androutsellis-Theotokis A, Ruiz-Babot G, Guasti L, Ludwig B, Bornstein T et al. ( 2018 ) . Expression of progenitor markers is associated with the functionality of a bioartificial adrenal cortex . PLoS One vol. 13 , ( 3 ) e0194643 - e0194643 .

Mancini A, Howard SR, Cabrera CP, Barnes MR, Heger S, Guasti L, Ojeda S, Dunkel L ( 2018 ) . <i>EAP1</i> Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter That Leads to Self-Limited Delayed Puberty . HORMONE RESEARCH IN PAEDIATRICS . vol. 90 , 20 - 20 .

Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U et al. ( 2018 ) . Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells .

Howard S, Oleari R, Mancini A, Poliandri A, Saengkaew T, Guasti L, Cariboni A, Dunkel L ( 2018 ) . Role of GnRH Neuronal Migration and Development in Self-Limited Delayed Puberty . HORMONE RESEARCH IN PAEDIATRICS . vol. 90 , 68 - 68 .

Guasti L, Dentali F, Castiglioni L, Maroni L, Marino F, Squizzato A, Ageno W, Gaudio G et al. ( 2017 ) . Neutrophils and clinical outcomes in patients with acute coronary syndromes and/or cardiac revascularisation . Thrombosis and Haemostasis vol. 106 , ( 04 ) 591 - 599 .

Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O’Rahilly S et al. ( 2017 ) . Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty . The Journal of Clinical Endocrinology & Metabolism vol. 103 , ( 2 ) 649 - 659 .

Howard S, Andre V, Guasti L, Cabrera C, Barnes M, Cariboni A, Dunkel L ( 2017 ) . Patients with self-limited delayed puberty harbour mutations in multiple genes controlling GnRH neuronal development . Endocrine Abstracts

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper C, Prasad R et al. ( 2017 ) . Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing . Endocrine Abstracts

Katugampola H, King PJ, Chatterjee S, Meso M, Duncan AJ, Achermann JC, Guasti L, Ghataore L et al. ( 2017 ) . Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit . The Journal of Clinical Endocrinology & Metabolism

Campiotti L, Suter MB, Guasti L, Piazza R, Grandi AM ( 2017 ) . Imatinib discontinuation in chronic myeloid leukaemia patients with undetectable BCR-ABL transcript level: A systematic review and a meta-analysis . European Journal of Cancer vol. 77 , 48 - 56 .

Tufton N, Roncaroli F, Hadjudemetriou I, Dang MN, Denes J, Guasti L, Thom M, Baldeweg SE ( 2017 ) . Metastatic pituitary carcinoma in an SDHB mutation positive patient . Endocrine Abstracts

Tufton N, Roncaroli F, Hadjidemetriou I, Dénes J, Guasti L, Thom M, Baldeweg SE ( 2017 ) . Pituitary Carcinoma in a Patient with an SDHB Mutation . Endocr Pathol vol. 28 , ( 4 ) 320 - 325 .

Poliandri A, Miller D, Howard S, Nobles M, Ruiz-Babot G, Harmer S, Tinker A, McKay T et al. ( 2017 ) . Generation of kisspeptin-responsive GnRH neurons from human pluripotent stem cells . Molecular and Cellular Endocrinology vol. 447 , 12 - 22 .

METHERELL LA, Prasad R, Storr HL, Guasti L, Maharaj A, Meimaridou E, Hadjidemetriou I ( 2017 ) . Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome . Journal of Clinical Investigation

Roncaroli F, Tufton N, Hadjidemetriou I, Dang MD, Guasti L, Baldeweg E, Fersht N ( 2017 ) . Pituitary carcinoma in a patient with germline Succinate Dehydrogenase B mutation . NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . Conference: 118th Meeting of the British-Neuropathological-Society vol. 43 , 46 - 46 .

Howard SR, Andre V, Guasti L, Cabrera CP, Barnes MR, Cariboni A, Dunkel L ( 2017 ) . DISCOVERY OF MUTATIONS IN MULTIPLE GENES CONTROLLING GNRH NEURONAL MIGRATION AND DEVELOPMENT IN PATIENTS WITH SELF-LIMITED DELAYED PUBERTY . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 59 - 59 .

Mistry JN, Ruiz-Babot G, Zaman F, Guasti L ( 2017 ) . MECHANISMS OF FIBROBLAST GROWTH FACTOR 21 (FGF21) MEDIATED GROWTH HORMONE RESISTANCE IN HUMAN GROWTH PLATE IN CHRONIC CHILDHOOD CONDITIONS . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 4 - 4 .

Derosa G, Maffioli P, D'Avino M, Sala C, Mugellini A, Vulpis V, Felis S, Guasti L et al. ( 2016 ) . Efficacy and safety of two dosages of canrenone as add‐on therapy in hypertensive patients taking ace‐inhibitors or angiotensin II receptor blockers and hydrochlorothiazide at maximum dosage in a randomized clinical trial: The ESCAPE‐IT trial . Cardiovascular Therapeutics vol. 35 , ( 1 ) 47 - 54 .

Prasad R, Maharaj A, Meimaridou E, van VP, Buonocore F, Barbagelata E, Bergada I, Cassinelli H et al. ( 2016 ) . Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome . Endocrine Abstracts

GUASTI L ( 2016 ) . Towards reconstruction of epithelialized cartilages from autologous adipose tissue-derived stem cells . Journal of Tissue Engineering and Regenerative Medicine

Ruiz-Babot G, Hadjidemetriou I, Ajodha SJ, Ghataore L, Taylor D, Guasti L ( 2016 ) . Generation of human urine-derived steroidogenic cells through lineage conversion: A new technology to study the adrenal gland . Endocrine Abstracts

Mancini A, Howard SR, Ruiz-Babot G, Cabrera CP, Barnes MR, Guasti L, Dunkel L . LGR4 and EAP1 mutations are implicated in the phenotype of self-limited delayed puberty . Endocrine Abstracts .

Prasad R, Maharaj A, Meimaridou E, VanVeldhoven P, Buonocore F, Bergada I, Barbagelata E, Cassinelli H et al. . Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome . Endocrine Abstracts .

Narendra MJ, Ruiz-Babot G, Guasti L . The mechanistic role of fibroblast growth factor 21 in growth hormone resistance secondary to chronic childhood conditions . Endocrine Abstracts .

METHERELL LA ( 2016 ) . IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty . EMBO Molecular Medicine vol. 8 , ( 6 ) 626 - 642 .

Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, Gorrigan RJ, Tate P, Guasti L et al. ( 2016 ) . Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol . Journal of EndocrinologyJOE-16-0057 - JOE-16-0057 .

Howard SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr HL, Metherell LA, Sternberg MJ et al. ( 2016 ) . IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty . EMBO Molecular Medicine

HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE et al. ( 2016 ) . IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty . EMBO Molecular Medicine vol. 8 , ( 6 ) 626 - 42 .

Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al. ( 2016 ) . Role of IGSF10 mutations in self-limited delayed puberty . The Lancet . vol. 387 ,

Howard S, Poliandre A, Storr HL, Metherell LA, Cabrera C, Warren H, Barnes M, Wehkalampi K et al. ( 2015 ) . Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH) . Endocrine Abstracts

Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Cabrera C et al. ( 2015 ) . Mutations in IGSF10 cause self-limited delayed puberty . Endocrine Abstracts

Babot GR, Hadjidemetriou I, Ajodha SJ, Taylor D, Taylor N ( 2015 ) . Lineage conversion of human cells to an adrenocortical phenotype: a new technology to study the adrenal gland . Endocrine Abstracts

Howard S, Poliandri A, Storr H, Metherell L, Cabrera C, Barnes M, Warren H, Wehkalampi K et al. ( 2015 ) . Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism . Endocrine Abstracts

Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al. ( 2015 ) . Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration . Endocrine Abstracts

Hadjidemetriou I, Ruiz-Babot G, Gomez-Sanchez C ( 2015 ) . Unveiling the complexity of the undifferentiated zone in the human adrenal cortex . Endocrine Abstracts

Ruiz-Babot G, Hadjidemetriou I ( 2015 ) . New Directions for the Treatment of Adrenal Insufficiency . Frontiers in Endocrinology vol. 6 ,

Guasti L, Silvennoinen S, Bulstrode NW, Ferretti P ( 2014 ) . Elevated FGF21 leads to attenuated postnatal linear growth in preterm infants through GH resistance in chondrocytes . J Clin Endocrinol Metab vol. 99 , ( 11 ) E2198 - E2206 .

Katugampola H, Halder W, Ganatra R, Dunkel L, Storr H, Guasti L, King P ( 2014 ) . Expression of Sonic hedgehog signalling components in the developing human adrenal cortex . Endocrine Abstracts

Ferrari M, Guasti L, Maresca A, Mirabile M, Grandi AM, Marino F ( 2014 ) . Association between statin-induced creatine kinase elevation and genetic polymorphisms in SLCO1B1, ABCB1 and ABCG2 . European Journal of Clinical Pharmacology vol. 70 , ( 5 ) 539 - 547 .

Howard S, Guasti L, Storr H, Metherell L, Cariboni A, Barnes M, Cabrera C, Wehkalampi K et al. ( 2014 ) . A novel gene affecting the timing of puberty . Endocrine Abstracts

Guasti L, Vagaska B, Seifalian AM, Ferretti P ( 2014 ) . Chondrogenic differentiation of adipose tissue-derived stem cells within nanocaged POSS-PCU scaffolds: a new tool for nanomedicine . Nanomedicine vol. 10 , ( 2 ) 279 - 289 .

Falcone C, Bozzini S, D’Angelo A, Capettini AC, Paganini EM, Falcone R ( 2013 ) . Soluble RAGE Plasma Levels in Patients with Coronary Artery Disease and Peripheral Artery Disease . The Scientific World JOURNAL vol. 2013 , ( 1 )

Guasti L, Cavlan D, Cogger K, Banu Z, King PJ ( 2013 ) . Dlk1 upregulates Gli1 expression in male rat adrenal capsule cells through the activation of β1 integrin and ERK1-2 . Endocrinology vol. 154 , ( 12 ) 4675 - 4684 .

Squizzato A, Rancan E, Dentali F, Bonzini M, Guasti L ( 2013 ) . Diagnostic accuracy of lung ultrasound for pulmonary embolism: a systematic review and meta‐analysis . Journal of Thrombosis and Haemostasis vol. 11 , ( 7 ) 1269 - 1278 .

Guasti L, Candy Sze WC, McKay T, Grose R, King PJ ( 2013 ) . FGF signalling through Fgfr2 isoform IIIb regulates adrenal cortex development . Mol Cell Endocrinol vol. 371 , ( 1-2 ) 182 - 188 .

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP ( 2013 ) . Familial glucocorticoid deficiency: New genes and mechanisms . Molecular and Cellular Endocrinology vol. 371 , ( 1-2 ) 195 - 200 .

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ ( 2013 ) . Familial glucocorticoid deficiency: New genes and mechanisms . Mol Cell Endocrinol vol. 371 , ( 1-2 ) 195 - 200 .

Donadini MP, Ageno W, Guasti L ( 2013 ) . Certoparin for the treatment and prevention of thrombosis: pharmacological profile and results from clinical studies . Expert Opinion on Drug Metabolism & Toxicology vol. 9 , ( 7 ) 901 - 909 .

Yates R, Katugampola H, Cogger K, Meimaridou E, Metherell L, Guasti L ( 2013 ) . Adrenocortical development, maintenance, and disease . Curr Top Dev Biol vol. 106 , 239 - 312 .

Cogger K, Guasti L, Ashworth R, Brennan C, Beales P, Marion V, King P ( 2012 ) . The role of primary cilia in mouse adrenal and zebrafish interrenal development . Cilia vol. 1 , ( Suppl 1 )

Kowalczyk⁎ J, Guasti L, Lei XG, Clark AJL ( 2012 ) . A homozygous glutathione peroxidase 1 mutation, p. Arg130-Leu133del, in a patient with familial glucocorticoid deficiency . Free Radical Biology and Medicine . vol. 53 , s220 - s221 .

Nicolini E, Martegani G, Maresca AM, Marchesi C, Dentali F, Lazzarini A, Speroni S ( 2012 ) . Left ventricular remodeling in patients with metabolic syndrome: Influence of gender . Nutrition Metabolism and Cardiovascular Diseases vol. 23 , ( 8 ) 771 - 775 .

Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Nürnberg P, Banerjee R ( 2012 ) . Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency . Nat Genet vol. 44 , ( 7 ) 740 - 742 .

Guasti L, Prasongchean W, Kleftouris G, Mukherjee S ( 2012 ) . High plasticity of pediatric adipose-derived stem cells: too much for selective skeletogenic differentiation? . Stem Cells Trans Med vol. 1 , ( 5 ) Article sctm.2012-0009 , 384 - 395 .

Hughes CR, Guasti L, Chuang C-H, Schimenti JC, King PJ, Costigan C, Metherell LA ( 2012 ) . <i>MCM4</i> mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans . JOURNAL OF CLINICAL INVESTIGATION vol. 122 , ( 3 ) 814 - 820 .

Marchesi C, Dentali F, Nicolini E, Maresca AM, Tayebjee MH, Franz M, Venco A ( 2012 ) . Plasma levels of matrix metalloproteinases and their inhibitors in hypertension . Journal of Hypertension vol. 30 , ( 1 ) 3 - 16 .

Grandi AM, Laurita E, Marchesi C, Maresca AM, Solbiati F, Bernasconi A, Marogna M, Guasti L ( 2011 ) . OSA, metabolic syndrome and CPAP: Effect on cardiac remodeling in subjects with abdominal obesity . Respiratory Medicine vol. 106 , ( 1 ) 145 - 152 .

Cooray SN, Guasti L, Clark AJL ( 2011 ) . The E3 ubiquitin ligase Mahogunin ubiquitinates the melanocortin 2 receptor . Endocrinology vol. 152 , ( 11 ) 4224 - 4231 .

Gorrigan RJ, Guasti L, Clark AJ ( 2011 ) . Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland . J Mol Endocrinol vol. 46 , ( 3 ) 227 - 232 .

Guasti L, Paul A, Laufer E ( 2011 ) . Localization of Sonic hedgehog secreting and receiving cells in the developing and adult rat adrenal cortex . Mol Cell Endocrinol vol. 336 , ( 1-2 ) 117 - 122 .

Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Gueorguiev M, Guegan K et al. ( 2010 ) . Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families . Hum Mutat vol. 31 , ( 8 ) 950 - 960 .

Squizzato A, Galli M, Romualdi E, Dentali F, Kamphuisen PW, Guasti L ( 2009 ) . Statins, fibrates, and venous thromboembolism: a meta-analysis . European Heart Journal vol. 31 , ( 10 ) 1248 - 1256 .

Marino F, Guasti L, Tozzi M, Maio RC, Castiglioni L, Rasini E, Schembri L, Maroni L et al. ( 2009 ) . Angiotensin Type 1 Receptor Expression and Interleukin-8 Production in Polymorphonuclear Leukocytes of Patients With Peripheral Arterial Disease . Journal of Cardiovascular Pharmacology vol. 54 , ( 6 ) 520 - 525 .

Guasti L, Richardson D, Jhaveri M, Eldeeb K, Barrett D, Elphick MR, Alexander SPH, Kendall D et al. ( 2009 ) . Minocycline treatment inhibits microglial activation and alters spinal levels of endocannabinoids in a rat model of neuropathic pain . Mol Pain vol. 5 ,

Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M et al. ( 2009 ) . MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family . Proc Natl Acad Sci U S A vol. 106 , ( 15 ) 6146 - 6151 .

Guasti L, Simoni C, Mainardi L, Crespi C, Cimpanelli MG, Klersy C, Gaudio G, Codari R et al. ( 2008 ) . Lack of relationship between cardiovascular reactivity to mental stress and autonomic modulation of the sinoatrial node in normotensive and hypertensive male subjects . International Journal of Psychophysiology vol. 71 , ( 3 ) 258 - 263 .

Pessia M, Servettini I, Panichi R, Guasti L, Arcangeli A ( 2008 ) . ERG voltage-gated K+ channels regulate excitability and discharge dynamics of the medial vestibular nucleus neurones . Journal of Physiology vol. 586 , ( 20 ) 4877 - 4890 .

King PJ, Laufer E ( 2008 ) . Hedgehog signalling in endocrine development and disease . J ENDOCRINOL vol. 198 , ( 3 ) 439 - 450 .

Guasti L, Crociani O, Redaelli E, Pillozzi S, Polvani S, Masselli M, Mello T, Wymore RS ( 2008 ) . Identification of a posttranslational mechanism for the regulation of hERG1 K+ channel expression and hERG1 current density in tumor cells . Mol Cell Biol vol. 28 , ( 16 ) 5043 - 5060 .

Guasti L, Simoni C, Scamoni C, Sarzi Braga S, Crespi C, Cimpanelli M, Pedretti R, Mainardi LT et al. ( 2007 ) . An unusual case presenting with hypertensive crisis . Internal and Emergency Medicine vol. 2 , ( 1 )

Furlan F, Taccola G, Grandolfo M, Guasti L, Nistri A ( 2007 ) . ERG conductance expression modulates the excitability of ventral horn GABAergic interneurons that control rhythmic oscillations in the developing mouse spinal cord . Journal of Neuroscience vol. 27 , ( 4 ) 919 - 928 .

Grandi AM, Laurita E, Solbiati F, Marchesi C, Nicolini E ( 2006 ) . Angiotensin-converting Enzyme Inhibitors Influence Left Ventricular Mass and Function Independently of the Antihypertensive Effect . Journal of Cardiovascular Pharmacology vol. 48 , ( 5 ) 207 - 211 .

Guasti L, Simoni C, Scamoni C, Braga SS, Crespi C, Cimpanelli M, Gaudio G, Pedretti R et al. ( 2006 ) . Mixed cranial nerve neuroma revealing itself as baroreflex failure . Autonomic Neuroscience vol. 130 , ( 1-2 ) 57 - 60 .

Restano R, Korolkova Y, Diochot S, Gurrola G, Guasti L, Possani L, Arcangeli A ( 2006 ) . Species diversity and peptide toxin blocking selectively of ERG subfamily K+ channels in the central nervous system . Mol Pharm vol. 69 , ( 5 ) 1673 - 83 .

Rasini E, Cosentino M, Marino F, Legnaro M, Ferrari M, Guasti L ( 2006 ) . Angiotensin II type 1 receptor expression on human leukocyte subsets: A flow cytometric and RT-PCR study . Peptides vol. 134 , ( 2-3 ) 69 - 74 .

Grandi AM, Maresca AM, Giudici E, Laurita E, Marchesi C, Solbiati F, Nicolini E ( 2006 ) . Metabolic Syndrome and Morphofunctional Characteristics of the Left Ventricle in Clinically Hypertensive Nondiabetic Subjects . American Journal of Hypertension vol. 19 , ( 2 ) 199 - 205 .

Marino F, Guasti L, Cosentino M, Piazza DD, Simoni C, Bianchi V, Piantanida E, Saporiti F et al. ( 2006 ) . Thyroid hormone and thyrotropin regulate intracellular free calcium concentrations in human polymorphonuclear leukocytes: in vivo and in vitro studies . International Journal of Immunopathology and Pharmacology vol. 19 , ( 1 ) 149 - 160 .

Guasti L, Cilia E, Crociani O, Polvani S, Becchetti A, Tempia F ( 2005 ) . Expression pattern of the ether-a-go-go-related (ERG) family proteins in the adult mouse central nervous system: evidence for coassembly of different subunits . J Comp Neurol vol. 491 , ( 2 ) 157 - 174 .

Marino F, Guasti L, Cosentino M, De Piazza D, Simoni C, Piantanida E, Klersy C, Bartalena L ( 2005 ) . Thyroid hormone regulation of cell migration and oxidative metabolism in polymorphonuclear leukocytes: Clinical evidence in thyroidectomized subjects on thyroxine replacement therapy . Life Sciences vol. 78 , ( 10 ) 1071 - 1077 .

Cherubini A, Hofmann G, Pillozzi S, Guasti L, Crociani O, Cilia E, Di Stefano P, Balzi M et al. ( 2005 ) . Human ether-a-go-go-related gene 1 channels are physically linked to beta1 integrins and modulate adhesion-dependent signaling . Mol Biol Cell vol. 16 , ( 6 ) 2972 - 2983 .

Furlan* F, Guasti* L, Avossa D, Becchetti A, Cilia E, Arcangeli A ( 2005 ) . Interneurons transiently express the ERG K+ channels during development of mouse spinal networks in vitro . Neuroscience vol. 135 , ( 4 ) 1179 - 1192 .

Arcangeli A, Becchetti A, Cherubini A, Crociani O, Defilippi P, Guasti L, Pillozzi S, Olivotto M ( 2004 ) . Physical and functional interaction between integrins and hERG potassium channels . Biochemical Society Transactions vol. 32 , ( 5 ) 826 - 827 .

Arcangeli A, Becchetti A, Cherubini A, Crociani O, Defilippi P, Guasti L, Hofmann G, Olivotto M ( 2004 ) . Physical and functional interaction between integrins and hERG potassium channels . Biochem Soc Trans vol. 32 , ( Pt 5 ) 826 - 827 .

Grandi AM, Laurita E, Selva E, Piantanida E, Imperiale D, Guasti L ( 2004 ) . Natriuretic peptides as markers of preclinical cardiac disease in obesity . European Journal of Clinical Investigation vol. 34 , ( 5 ) 342 - 348 .

Lastraioli* E, Guasti* L, Crociani O, Polvani S, Hofmann G, Witchel H, Bencini L, Messerini L et al. ( 2004 ) . herg1 gene and HERG1 protein are overexpressed in colorectal cancers and regulate cell invasion of tumor cells . Cancer Res vol. 64 , ( 2 ) 606 - 611 .

Crociani O, Guasti L, Balzi M, Becchetti A, Wymore RS ( 2003 ) . Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor cells . J Biol Chem vol. 278 , ( 5 ) 2947 - 2955 .

Grandi AM, Imperiale D, Santillo R, Barlocco E, Bertolini A, Guasti L ( 2002 ) . Aldosterone Antagonist Improves Diastolic Function in Essential Hypertension . Hypertension vol. 40 , ( 5 ) 647 - 652 .

Pillozzi S, Brizzi MF, Balzi M, Crociani O, Cherubini A, Guasti L, Becchetti A, Wanke E et al. ( 2002 ) . HERG potassium channels are constitutively expressed in primary human acute myeloid leukemias and regulate cell proliferation of normal and leukemic hemopoietic progenitors . Leukemia vol. 16 , ( 9 ) 1791 - 1798 .

Cherubini A, Pillozzi S, Hofmann G, Crociani O, Guasti L, Lastraioli E, Polvani S, Masi A et al. ( 2002 ) . HERG K+ channels and β1 integrins interact through the assembly of a macromolecular complex . Annals of the New York Academy of Sciences vol. 973 , 559 - 561 .

Guasti L, Petrozzino MR, Mainardi LT, Grimoldi P, Zanotta D, Garganico D, Simoni C, Cerutti S ( 2001 ) . Autonomic function and baroreflex sensitivity during angiotensin-converting enzyme inhibition or angiotensin II AT-1 receptor blockade in essential hypertensive patients . Acta Cardiologica vol. 56 , ( 5 ) 289 - 295 .

Hofmann G, Bernabei PA, Crociani O, Cherubini A, Guasti L, Lastraioli E, Polvani S, Solazzo V et al. ( 2001 ) . HERG K channels activation during β1 integrin-mediated adhesion to fibronectin induces an up regulation of αvβ3 integrin in the preosteoclastic leukemia cell line . J Biol Chem4923 - 31 .

Grandi A, Zanzi P, Piantanida E, Bertolini A ( 2000 ) . Obesity and left ventricular diastolic function: noninvasive study in normotensives and newly diagnosed never-treated hypertensives . International Journal of Obesity vol. 24 , ( 8 ) 954 - 958 .

Grandi AM, Santillo R, Zanzi P, Broggi R, Imperiale D, Bertolini A, Jessula A, Selva E ( 2000 ) . Microalbuminuria in never-treated hypertensives: Lack of relationship to hyperinsulinemia and genetic predisposition to hypertension . American Journal of Hypertension vol. 13 , ( 4 ) 353 - 358 .

Grandi AM, Zanzi P, Fachinetti A, Gaudio G, Ceriani L, Guasti L ( 1999 ) . Insulin and Diastolic Dysfunction in Lean and Obese Hypertensives . Hypertension vol. 34 , ( 6 ) 1208 - 1214 .

Guasti L, Zanotta D, Petrozzino MR, Diolisi A, Garganico D, Gaudio G, Grandi AM ( 1999 ) . Relationship between dental pain perception and 24 hour ambulatory blood pressure . Journal of Hypertension vol. 17 , ( 12 ) 1799 - 1804 .

Guasti L, Gaudio G, Zanotta D, Grimoldi P, Bertolini A, Grandi AM ( 1999 ) . Relationship between a genetic predisposition to hypertension, blood pressure levels and pain sensitivity . Pain vol. 82 , ( 3 ) 311 - 317 .

Mariniello K, Pittaway JFH, Altieri B, Borges KS, Hadjidemetriou I, Ribeiro C, Ruiz-Babot G, Lim JA et al. . Dlk1 is a novel adrenocortical stem/progenitor cell marker that predicts malignancy in adrenocortical carcinoma .

GUASTI L, Gullo F, Ales E, Rosati B . ERG Blockade Enhances Firing and Epinephrine Secretion in Rat Chromaffin Cells: the Missing Link to LQT2-related Sudden Death? .

Hoffman G, Bernabei PA, Crociani O, Cherubini A, Guasti L, Pilozzi S, Lastraioli E, Polvani S et al. . HERG K+ channels activation during beta(1) integrin-mediated adhesion to fibronectin induces an up-regulation of alpha(v)beta(3) integrin in the preosteoclastic leukemia cell line FLG 29.1 . Journal of Biological Chemistry vol. 276 , 4923 - 4931 .

CHAN L . MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation . The FASEB Journal

GUASTI L, Ruiz-Babot G, Balyura M, HADJIDEMETRIOU I, AJODHA S, Taylor D, Ghataore L, Taylor N et al. . Modeling congenital adrenal hyperplasia and testing interventions for adrenal insufficiency using donor- specific reprogrammed cells . Cell Reports

METHERELL LA, Guasti L, meimaridou E, maharaj A, storr HL, Hadjidemetriou I . SGPL1 mutations cause primary adrenal insufficiency and steroid resistant nephrotic syndrome . Journal of Clinical Investigation