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A molecular network regulating the proinflammatory phenotype of human memory T lymphocytes.

Stefan Emming, Niccolò Bianchi, Sara Polletti, Chiara Balestrieri, Cristina Leoni, Sara Montagner, Michele Chirichella, Nicolas Delaleu, Gioacchino Natoli, Silvia Monticelli,

Understanding the mechanisms that modulate helper T lymphocyte functions is crucial to decipher normal and pathogenic immune responses in humans. To identify molecular determinants influencing the pathogenicity of T cells, we separated ex vivo-isolated primary human memory T lymphocytes on the basis of their ability to produce high levels of ... Read more >>

Nat. Immunol. (Nature immunology)
[2020, 21(4):388-399]

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One case of anetoderma post-vitamin K1 injection in a newborn.

Ilaria Esposito, Cristina Guerriero, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Ketty Peris,

Int. J. Dermatol. (International journal of dermatology)
[2020, 59(5):e168-e169]

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Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment.

R Onesimo, C De Rose, A B Delogu, A Battista, C Leoni, S Veltri, G De Rosa, G Zampino,

BACKGROUND:Fetal alcohol spectrum disorder (FASD) refers to a broad spectrum of disabilities, in infants and children, resulting from moderate to excessive prenatal alcohol exposure. Significant associations with alcohol exposure were already reported with congenital structural heart defects: i.e. ventricular septal defects, atrial septal defects, conotruncal defects. CASES PRESENTATION:We describe two ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2019, 45(1):167]

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Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.

Paolo Alfieri, Francesco Demaria, Serena Licchelli, Ornella Santonastaso, Cristina Caciolo, Maria Cristina Digilio, Lorenzo Sinibaldi, Chiara Leoni, Maria Gnazzo, Marco Tartaglia, Patrizio Pasqualetti, Stefano Vicari,

KBG syndrome is a rare multisystem developmental disorder caused by ankyrin repeat domain-containing protein 11 (ANKRD11) gene haploinsufficiency, resulting from either intragenic loss-of-function mutations or microdeletions encompassing the gene. Concerning the behavioral phenotype, a limited amount of research has been focused on attention deficit and hyperactivity disorder, autistic-like features, anxiety ... Read more >>

Brain Sci (Brain sciences)
[2019, 9(11):]

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It Is Feasible to Produce Olive Oil in Temperate Humid Climate Regions.

Paula Conde-Innamorato, Mercedes Arias-Sibillotte, Juan José Villamil, Juliana Bruzzone, Yesica Bernaschina, Virginia Ferrari, Roberto Zoppolo, José Villamil, Carolina Leoni,

Worldwide olive industry has expanded into new climatic regions outside the Mediterranean basin due to an increase in extra virgin olive oil demand posing new challenges. This is the case of Uruguay, South America, where the olive crop area reached 10,000 hectares in the last 15 years and is intended ... Read more >>

Front Plant Sci (Frontiers in plant science)
[2019, 10:1544]

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Human Endometrial Microbiota at Term of Normal Pregnancies.

Claudia Leoni, Oronzo Ceci, Caterina Manzari, Bruno Fosso, Mariateresa Volpicella, Alessandra Ferrari, Paola Fiorella, Graziano Pesole, Ettore Cicinelli, Luigi Ruggiero Ceci,

The endometrium is a challenging site for metagenomic analysis due to difficulties in obtaining uncontaminated samples and the limited abundance of the bacterial population. Indeed, solid correlations between endometrial physio-pathologic conditions and bacteria compositions have not yet been firmly established. Nevertheless, the study of the endometrial microbiota is of great ... Read more >>

Genes (Basel) (Genes)
[2019, 10(12):]

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Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Marcello Niceta, Domenico Barbuti, Neerja Gupta, Carlos Ruggiero, Eduardo F Tizzano, Luitgard Graul-Neumann, Sabina Barresi, Gen Nishimura, Irene Valenzuela, Fermina López-Grondona, Paula Fernandez-Alvarez, Chiara Leoni, Christiane Zweier, Andreas Tzschach, Emilia Stellacci, Andrea Del Fattore, Bruno Dallapiccola, Giuseppe Zampino, Marco Tartaglia,

Aymé-Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF. Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, ... Read more >>

Clin. Genet. (Clinical genetics)
[2020, 97(2):362-369]

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Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Marcella Zollino, Carlotta Ranieri, Valentina Grossi, Chiara Leoni, Serena Lattante, Daniela Mazzà, Cristiano Simone, Nicoletta Resta,

BACKGROUND:Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients with macrocephaly to date. Clinical and prognostic features of these germline variants have not been ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(8):e845]

Cited: 1 time

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Chitinases as Food Allergens.

Claudia Leoni, Mariateresa Volpicella, Maria Dileo, Bruno A R Gattulli, Luigi R Ceci,

Food allergies originate from adverse immune reactions to some food components. Ingestion of food allergens can cause effects of varying severity, from mild itching to severe anaphylaxis reactions. Currently there are no clues to predict the allergenic potency of a molecule, nor are cures for food allergies available. Cutting-edge research ... Read more >>

Molecules (Molecules (Basel, Switzerland))
[2019, 24(11):]

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Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Chiara Leoni, Roberta Onesimo, Nicoletta Resta, Maria L Patti, Rita De Santis, Rosanna Bagnulo, Luca Russo, Riccardo Manfredi, Maurizio Genuardi, Giuseppe Zampino,

PIK3CA-related overgrowth spectrum (PROS) are overgrowth diseases involving mesenchymal tissues caused by postzygotic variants in the PIK3CA gene. Fibro-Adipose hyperplasia or Overgrowth (FAO) belongs to PROS. We reported the beneficial effect of oral low-dose sirolimus therapy in a child affected by progressive FAO in term of stabilization of the disease, ... Read more >>

Clin. Genet. (Clinical genetics)
[2019, 96(1):102-103]

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First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

Chiara Leoni, Giuseppe Gullo, Nicoletta Resta, Anna Fagotti, Roberta Onesimo, Brian Schwartz, Julia Kazakin, Giovanni Abbadessa, John Crown, Conor D Collins, Carlotta Ranieri, Giovanni Scambia, Giuseppe Zampino,

Proteus syndrome (PS) is an ultra-rare disease characterized by progressive, disproportionate, segmental overgrowth caused by a somatic gain-of-function mutation p.Glu17Lys in the oncogene AKT1. The disease has high morbidity and mortality rates due to the increased risk for patients to develop cancer and progressive overgrowth. A teenage patient with severe ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(7):1319-1324]

Cited: 1 time

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Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

Chiara Leoni, Elizabeth Katherine Anna Triumbari, Catello Vollono, Roberta Onesimo, Maria Podagrosi, Valentina Giorgio, Eliza Kuczynska, Stefania Veltri, Marco Tartaglia, Giuseppe Zampino,

Pain in individuals with RASopathies is a neglected topic in literature. In this article, we assessed prevalence and profile of pain in a sample of 80 individuals affected by RASopathies. The study sample included individuals with Noonan syndrome (N = 42), Costello syndrome (N = 17), and cardio-facio-cutaneous syndrome (N = 21). A ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(6):940-947]

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The contribution of active and passive mechanisms of 5mC and 5hmC removal in human T lymphocytes is differentiation- and activation-dependent.

Lucia Vincenzetti, Cristina Leoni, Michele Chirichella, Ivo Kwee, Silvia Monticelli,

In mammals, the 5'-methylcytosine (5mC) modification in the genomic DNA contributes to the dynamic control of gene expression. 5mC erasure is required for the activation of developmental programs and occurs either by passive dilution through DNA replication, or by enzymatic oxidation of the methyl mark to 5-hydroxymethylcytosine (5hmC), which can ... Read more >>

Eur. J. Immunol. (European journal of immunology)
[2019, 49(4):611-625]

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Percentage of anthracnose (Colletotrichum acutatum s.s.) acceptable in olives for the production of extra virgin olive oil

Carolina Leoni, Cecilia Martínez, Juan José Villamil, Juliana Bruzzone, María José Montelongo, Oscar Bentancur, Paula Conde-Innamorato,

Anthracnose olive rot (AOR) is the main fruit disease of olives, causing direct yield losses and declining oil quality. Fruit infection occurs either in spring during flowering and fruit-set or in summer from the beginning of veraison to harvest. Conducive weather conditions (rain, elevated air relative humidity, air temperature above ... Read more >>

Crop Prot. (Crop protection (Guildford, Surrey))
[2018, 108:47-53]

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Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Antonio Gatto, Pietro Ferrara, Chiara Leoni, Roberta Onesimo, Marcella Zollino, Francesco Emma, Giuseppe Zampino,

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). We describe a case of a male 9 years old children with WHS proteinuria and hypertension. Laboratory data showed creatinine 1.05 mg/dl, GFR 65.9 ml/min/1.73 m2 , cholesterol 280 mg/dl, triglyceride 125 mg/dl with electrolytes in the normal ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2018, 176(2):409-414]

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Epigenetic and transcriptional control of mast cell responses

Silvia Monticelli, Cristina Leoni,

Mast cells are tissue-resident, innate immune cells present in most tissues of the body and are important effector and immunomodulatory cells. Differentiated mast cells typically are characterized by the surface expression of the receptors KIT and FcεRI, the latter especially being important for stimulation through IgE antibodies, although these cells ... Read more >>

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Epigenetic and transcriptional control of mast cell responses.

Silvia Monticelli, Cristina Leoni,

Mast cells are tissue-resident, innate immune cells present in most tissues of the body and are important effector and immunomodulatory cells. Differentiated mast cells typically are characterized by the surface expression of the receptors KIT and FcεRI, the latter especially being important for stimulation through IgE antibodies, although these cells ... Read more >>

F1000Res (F1000Research)
[2017, 6:2064]

Cited: 2 times

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Costello Syndrome: The Challenge of Hypoglycemia and Failure to Thrive.

C Leoni, E Flex,

EBioMedicine (EBioMedicine)
[2018, 27:5-6]

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Psychopathological features in Noonan syndrome.

Francesca Perrino, Serena Licchelli, Giulia Serra, Giorgia Piccini, Cristina Caciolo, Patrizio Pasqualetti, Flavia Cirillo, Chiara Leoni, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Paolo Alfieri, Stefano Vicari,

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2018, 22(1):170-177]

Cited: 3 times

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Transcriptomic analysis of nickel exposure in Sphingobium sp. ba1 cells using RNA-seq.

M Volpicella, C Leoni, C Manzari, M Chiara, E Picardi, E Piancone, F Italiano, A D'Erchia, M Trotta, D S Horner, G Pesole, L R Ceci,

Nickel acts as cofactor for a number of enzymes of many bacteria species. Its homeostasis is ensured by proteins working as ion efflux or accumulation systems. These mechanisms are also generally adopted to counteract life-threatening high extra-cellular Ni2+ concentrations. Little is known regarding nickel tolerance in the genus Sphingobium. We ... Read more >>

Sci Rep (Scientific reports)
[2017, 7(1):8262]

Cited: 2 times

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TET2 Regulates Mast Cell Differentiation and Proliferation through Catalytic and Non-catalytic Activities.

Sara Montagner, Cristina Leoni, Stefan Emming, Giulia Della Chiara, Chiara Balestrieri, Iros Barozzi, Viviana Piccolo, Susan Togher, Myunggon Ko, Anjana Rao, Gioacchino Natoli, Silvia Monticelli,

Cell Rep (Cell reports)
[2017, 20(7):1744]

Cited: 2 times

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Techniques of parenchyma-sparing hepatectomy for the treatment of tumors involving the hepatocaval confluence: A reliable way to assure an adequate future liver remnant volume.

Lucio Urbani, Piero Colombatto, Riccardo Balestri, Gabriella Licitra, Chiara Leoni, Francesco Forfori, Gianluca Masi, Piero Boraschi, Maura Castagna, Piero Buccianti,

Parenchyma-sparing hepatectomy techniques allow a lesser volume resection (<3 adjacent segments) for tumors involving the hepatic veins at the hepatocaval confluence, assuring adequate volume of the future liver remnant. We report the ability to perform parenchyma-sparing hepatectomy as planned from the preoperative imaging and the type of vascular intervention used ... Read more >>

Surgery (Surgery)
[2017, 162(3):483-499]

Cited: 1 time

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Characterization of maize chitinase-A, a tough allergenic molecule.

M Volpicella, C Leoni, I Fanizza, M Distaso, G Leoni, L Farioli, T Naumann, E Pastorello, L R Ceci,

Food allergies are recognized as an increasing health concern. Proteins commonly identified as food allergens tend to have one of about 30 different biochemical activities. This leads to the assumption that food allergens must have specific structural features which causes their allergenicity. But these structural features are not completely understood. ... Read more >>

Allergy (Allergy)
[2017, 72(9):1423-1429]

Cited: 3 times

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PTFE Graft as a "Bridge" to Communicating Veins Maturation in the Treatment of an Intrahepatic Cholangiocarcinoma Involving the 3 Hepatic Veins. The Minor-but-Complex Liver Resection.

Lucio Urbani, Riccardo Balestri, Francesco Sidoti, Juri Riccardo Bernardini, Francesco Arces, Gabriella Licitra, Chiara Leoni, Francesco Forfori, Piero Colombatto, Piero Boraschi, Maura Castagna, Piero Buccianti,

Parenchyma-sparing liver surgery allows resecting hepatic veins (HV) at the hepatocaval confluence with minor (<3 adjacent segments) liver resections. PTFE graft can be used as a bridge to communicating-veins maturation to ensure the correct outflow of the spared liver. We present a video of an intrahepatic cholangiocarcinoma (IC) involving the ... Read more >>

Ann. Surg. Oncol. (Annals of surgical oncology)
[2016, 23(Suppl 5):911]

Cited: 1 time

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The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

David A Stevenson, Lisa Schill, Lisa Schoyer, Brage S Andresen, Annette Bakker, Pinar Bayrak-Toydemir, Emma Burkitt-Wright, Kathryn Chatfield, Florent Elefteriou, Ype Elgersma, Michael J Fisher, David Franz, Bruce D Gelb, Anne Goriely, Karen W Gripp, Antonio Y Hardan, Kim M Keppler-Noreuil, Bronwyn Kerr, Bruce Korf, Chiara Leoni, Frank McCormick, Scott R Plotkin, Katherine A Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh, Brigitte C Widemann,

The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2016, 170(8):1959-1966]

Cited: 3 times

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