Search Results - "DUCA, MARCO DI"

Refining the electroclinical spectrum of NPRL3 ‐related epilepsy: A novel multiplex family and literature review by Dainelli, Alice, Iacomino, Michele, Rossato, Sara, Bugin, Samuela, Traverso, Monica, Severino, Mariasavina, Gustincich, Stefano, Capra, Valeria, Di Duca, Marco, Zara, Federico, Scala, Marcello, Striano, Pasquale

“…Abstract Objective NPRL3 ‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive…”
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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome by Bachetti, Tiziana, Matera, Ivana, Borghini, Silvia, Duca, Marco Di, Ravazzolo, Roberto, Ceccherini, Isabella

“…Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by absence of adequate autonomic control of respiration with…”
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Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome by Parodi, Sara, Bachetti, Tiziana, Lantieri, Francesca, Duca, Marco Di, Santamaria, Giuseppe, Ottonello, Giancarlo, Matera, Ivana, Ravazzolo, Roberto, Ceccherini, Isabella

“…Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy…”
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A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia by Caridi, Gianluca, Dagnino, Monica, Di Duca, Marco, Santra, Saikat, Ball, Sarah, Sulaiman, Raashda A, Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo

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The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells by Borghini, Silvia, Bachetti, Tiziana, Fava, Monica, Di Duca, Marco, Cargnin, Francesca, Fornasari, Diego, Ravazzolo, Roberto, Ceccherini, Isabella

“…The TLX2 (HOX11L1, Ncx, Enx) and PHOX2B genes encode transcription factors crucial in the development of neural-crest-derived cells, leading to ANS (autonomic…”
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Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion by Chelleri, Cristina, Brolatti, Noemi, De Marco, Patrizia, Ognibene, Marzia, Diana, Maria Cristina, Madia, Francesca, Duca, Marco Di, Santangelo, Andrea, Capra, Valeria, Striano, Pasquale, Zara, Federico, Scala, Marcello

“…Legius syndrome, commonly referred to as SPRED1‐related neurofibromatosis type 1‐like syndrome, is a rare autosomal dominant disorder characterized by…”
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Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction by Matera, Ivana, Bordo, Domenico, Di Duca, Marco, Lerone, Margherita, Santamaria, Giuseppe, Pongiglione, Marta, Lezo, Antonella, Diamanti, Antonella, Spagnuolo, Maria Immacolata, Pini Prato, Alessio, Alberti, Daniele, Mattioli, Girolamo, Gandullia, Paolo, Ceccherini, Isabella

“…Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle contraction, have been found in patients affected with chronic intestinal…”
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Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity by Chelleri, Cristina, Scala, Marcello, De Marco, Patrizia, Guerriero, Vittorio, Ognibene, Marzia, Madia, Francesca, Guerrisi, Sara, Di Duca, Marco, Torre, Michele, Tamburro, Serena, Scudieri, Paolo, Piccolo, Gianluca, Mattioli, Girolamo, Buffelli, Francesca, Uva, Paolo, Vozzi, Diego, Fulcheri, Ezio, Striano, Pasquale, Diana, Maria Cristina, Zara, Federico

“…Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The…”
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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study by Scala, Marcello, Schiavetti, Irene, Madia, Francesca, Chelleri, Cristina, Piccolo, Gianluca, Accogli, Andrea, Riva, Antonella, Salpietro, Vincenzo, Bocciardi, Renata, Morcaldi, Guido, Di Duca, Marco, Caroli, Francesco, Verrico, Antonio, Milanaccio, Claudia, Viglizzo, Gianmaria, Traverso, Monica, Baldassari, Simona, Scudieri, Paolo, Iacomino, Michele, Piatelli, Gianluca, Minetti, Carlo, Striano, Pasquale, Garrè, Maria Luisa, De Marco, Patrizia, Diana, Maria Cristina, Capra, Valeria, Pavanello, Marco, Zara, Federico

“…Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in and characterized by a heterogeneous phenotypic presentation…”
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The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling by Bachetti, Tiziana, Rosamilia, Francesca, Bartolucci, Martina, Santamaria, Giuseppe, Mosconi, Manuela, Sartori, Serenella, De Filippo, Maria Rosaria, Di Duca, Marco, Obino, Valentina, Avanzini, Stefano, Mavilio, Domenico, Candiani, Simona, Petretto, Andrea, Pini Prato, Alessio, Ceccherini, Isabella, Lantieri, Francesca

“…Hirschsprung (HSCR) Associated Enterocolitis (HAEC) is a common life-threatening complication in HSCR. HAEC is suggested to be due to a loss of gut homeostasis…”
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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 by Ognibene, Marzia, Scala, Marcello, Iacomino, Michele, Schiavetti, Irene, Madia, Francesca, Traverso, Monica, Guerrisi, Sara, Di Duca, Marco, Caroli, Francesco, Baldassari, Simona, Tappino, Barbara, Romano, Ferruccio, Uva, Paolo, Vozzi, Diego, Chelleri, Cristina, Piatelli, Gianluca, Diana, Maria Cristina, Zara, Federico, Capra, Valeria, Pavanello, Marco, De Marco, Patrizia

“…Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in gene, coding for neurofibromin 1. NF1 can be associated with Moyamoya…”
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Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation by Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella

“…[This corrects the article DOI: 10.3389/fgene.2021.744068.]…”
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Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation by Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella

“…Alexander disease is a leukodystrophy caused by heterozygous mutations of gene. Recurrence in siblings from healthy parents provides a confirmation to the…”
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Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization by Lasigliè, Denise, Mensa-Vilaro, Anna, Ferrera, Denise, Caorsi, Roberta, Penco, Federica, Santamaria, Giuseppe, Di Duca, Marco, Amico, Giulia, Nakagawa, Kenji, Antonini, Francesca, Tommasini, Alberto, Consolini, Rita, Insalaco, Antonella, Cattalini, Marco, Obici, Laura, Gallizzi, Romina, Santarelli, Francesca, Del Zotto, Genny, Severino, Mariasavina, Rubartelli, Anna, Ravazzolo, Roberto, Martini, Alberto, Ceccherini, Isabella, Nishikomori, Ryuta, Gattorno, Marco, Arostegui, Juan I, Borghini, Silvia

“…To evaluate the rate of somatic mosaicism in an Italian cohort of mutation-negative patients with cryopyrin-associated periodic syndrome (CAPS). The study…”
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The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome by Romano, Ferruccio, De Marco, Patrizia, Ognibene, Marzia, Di Duca, Marco, Baldassari, Simona, Pavanello, Marco, Piatelli, Gianluca, Zara, Federico, Capra, Valeria

“…Background Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM),…”
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Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome by Bachetti, Tiziana, Parodi, Sara, Di Duca, Marco, Santamaria, Giuseppe, Ravazzolo, Roberto, Ceccherini, Isabella

“…Heterozygous trinucleotide in frame duplications, leading to expansions of variable lengths of a 20-alanine stretch (polyAla), is the most frequent PHOX2B…”
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Functional characterization of a minimal sequence essential for the expression of human TLX2 gene by Borghini, Silvia, Bachetti, Tiziana, Fava, Monica, Duca, Marco Di, Ravazzolo, Roberto, Ceccherini, Isabella

“…TLX2 is an orphan homeodomain transcription factor whose expression is mainly associated with tissues derived from neural crest cells. Recently, we have…”
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Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators by Caputo, Antonella, Hinzpeter, Alexandre, Caci, Emanuela, Pedemonte, Nicoletta, Arous, Nicole, Di Duca, Marco, Zegarra-Moran, Olga, Fanen, Pascale, Galietta, Luis J V

“…Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel. The mutations G551D and G1349D,…”
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Rare Functional Variants of Podocin (NPHS2) Promoter in Patients With Nephrotic Syndrome by OLEGGINI, ROBERTA, BERTELLI, ROBERTA, DONATO, ARMANDO DI, DUCA, MARCO DI, CARIDI, GIANLUCA, SANNA, SIMONE-CHERCHI, SCOLARI, FRANCESCO, MURER, LUISA, ALLEGRI, LANDINO, COPPO, ROSANNA, EMMA, FRANCESCO, CAMUSSI, GIOVANNI, PERFUMO, FRANCESCO, GHIGGERI, GIAN MARCO

“…Podocin (NPHS2) is a component of the glomerular slit-diaphragm, with major regulatory functions in renal permeability of proteins. Loss of podocin and…”
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Lysyl oxidase expression and collagen cross-linking during chronic adriamycin nephropathy by Di Donato, A, Ghiggeri, G M, Di Duca, M, Jivotenko, E, Acinni, R, Campolo, J, Ginevri, F, Gusmano, R

“…Collagen cross-linking induced by lysyl oxidase has been implicated in liver and lung fibrosis. To define the role of this process in kidney fibrosis, we…”
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