Search Results - "MINA, Erika Della"

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts by Mina, Erika Della, Borghesi, Alessandro, Zhou, Hao, Bougarn, Salim, Boughorbel, Sabri, Israel, Laura, Meloni, Ilaria, Chrabieh, Maya, Ling, Yun, Itan, Yuval, Renieri, Alessandra, Mazzucchelli, Iolanda, Basso, Sabrina, Pavone, Piero, Falsaperla, Raffaele, Ciccone, Roberto, Cerbo, Rosa Maria, Stronati, Mauro, Picard, Capucine, Zuffardi, Orsetta, Abel, Laurent, Chaussabel, Damien, Marr, Nico, Li, Xiaoxia, Casanova, Jean-Laurent, Puel, Anne

“…Most members of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) families transduce signals via a canonical pathway involving the MyD88 adapter…”
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Polymorphisms in IFIH1: the good and the bad by Della Mina, Erika, Rodero, Mathieu P, Crow, Yanick J

“…A study of polymorphisms in the sensor IFIH1 exposes the evolutionary trade-off between a robust antiviral type I interferon response and the risk of…”
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Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects by Resta, Nicoletta, Giorda, Roberto, Bagnulo, Rosanna, Beri, Silvana, Mina, Erika Della, Stella, Alessandro, Piglionica, Marilidia, Susca, Francesco Claudio, Guanti, Ginevra, Zuffardi, Orsetta, Ciccone, Roberto

“…The Peutz-Jeghers Syndrome (PJS) is an autosomal dominant polyposis disorder with increased risk of multiple cancers. STK11/LKB1 (hereafter named STK11)…”
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Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity by Della Mina, Erika, Guérin, Antoine, Tangye, Stuart G.

“…Hematopoietic stem cells (HSCs) are the progenitor cells that give rise to the diverse repertoire of all immune cells. As they differentiate, HSCs yield a…”
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Atypical Autosomal Recessive AID Deficiency—Yet Another Piece of the Hyper-IgM Puzzle by Mina, Erika Della, Tangye, Stuart G.

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Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency by Lévy, Romain, Okada, Satoshi, Béziat, Vivien, Moriya, Kunihiko, Liu, Caini, Chai, Louis Yi Ann, Migaud, Mélanie, Hauck, Fabian, Ali, Amein Al, Cyrus, Cyril, Vatte, Chittibabu, Patiroglu, Turkan, Unal, Ekrem, Ferneiny, Marie, Hyakuna, Nobuyuki, Nepesov, Serdar, Oleastro, Matias, Ikinciogullari, Aydan, Dogu, Figen, Asano, Takaki, Ohara, Osamu, Yun, Ling, Mina, Erika Della, Bronnimann, Didier, Itan, Yuval, Gothe, Florian, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Tahuil, Natalia, Aytekin, Caner, Salhi, Aicha, Muhsen, Saleh Al, Kobayashi, Masao, Toubiana, Julie, Abel, Laurent, Li, Xiaoxia, Camcioglu, Yildiz, Celmeli, Fatih, Klein, Christoph, AlKhater, Suzan A., Casanova, Jean-Laurent, Puel, Anne

“…Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The…”
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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A by Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I, Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P, Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A, Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A, McMillan, Hugh J, Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J

“…Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the induction of interferon signaling by mtDNA has not been demonstrated in…”
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A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries by Huynh, Aimee, Gray, Paul E, Sullivan, Anna, Mackie, Joseph, Guerin, Antoine, Rao, Geetha, Pathmanandavel, Karrnan, Mina, Erika Della, Hollway, Georgina, Hobbs, Matthew, Enthoven, Karen, O’Young, Patrick, McManus, Sam, Wainwright, Luke H., Higgins, Megan, Noon, Fallon, Wong, Melanie, Bastard, Paul, Zhang, Qian, Casanova, Jean-Laurent, Hsiao, Kuang-Chih, Pinzon-Charry, Alberto, Ma, Cindy S, Tangye, Stuart G.

“…Advanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease outcomes for individuals with genetic…”
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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform by Della Mina, Erika, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valentina, Lunghi, Simona, Coppola, Giangennaro, Orcesi, Simona, Merli, Pietro, Savasta, Salvatore, Veggiotti, Pierangelo, Zuffardi, Orsetta

“…We analyzed by next-generation sequencing (NGS) 67 epilepsy genes in 19 patients with different types of either isolated or syndromic epileptic disorders and…”
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Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity by Israel, Laura, Wang, Ying, Bulek, Katarzyna, Della Mina, Erika, Zhang, Zhao, Pedergnana, Vincent, Chrabieh, Maya, Lemmens, Nicole A., Sancho-Shimizu, Vanessa, Descatoire, Marc, Lasseau, Théo, Israelsson, Elisabeth, Lorenzo, Lazaro, Yun, Ling, Belkadi, Aziz, Moran, Andrew, Weisman, Leonard E., Vandenesch, François, Batteux, Frederic, Weller, Sandra, Levin, Michael, Herberg, Jethro, Abhyankar, Avinash, Prando, Carolina, Itan, Yuval, van Wamel, Willem J.B., Picard, Capucine, Abel, Laurent, Chaussabel, Damien, Li, Xiaoxia, Beutler, Bruce, Arkwright, Peter D., Casanova, Jean-Laurent, Puel, Anne

“…The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP…”
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XX males SRY negative: a confirmed cause of infertility by Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta

“…SOX9 is a widely expressed transcription factor playing several relevant functions during development and essential for testes differentiation. It is…”
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A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome by Della Mina, Erika, Jackson, Katherine J. L., Crawford, Alexander J. I., Faulks, Megan L., Pathmanandavel, Karrnan, Acquarola, Nicolino, O’Sullivan, Michael, Kerre, Tessa, Naesens, Leslie, Claes, Karlien, Goodnow, Christopher C., Haerynck, Filomeen, Kracker, Sven, Meyts, Isabelle, D’Orsogna, Lloyd J., Ma, Cindy S., Tangye, Stuart G.

“…B cells and their secreted antibodies are fundamental for host-defense against pathogens. The generation of high-affinity class switched antibodies results…”
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A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield by Kermode, William, De Santis, Dianne, Truong, Linh, Della Mina, Erika, Salman, Sam, Thompson, Grace, Nolan, David, Loh, Richard, Mallon, Dominic, Mclean-Tooke, Andrew, John, Mina, Tangye, Stuart G., O'Sullivan, Michael, D'Orsogna, Lloyd J.

“…With the advent of next-generation sequencing (NGS), monogenic forms of common variable immunodeficiency (CVID) have been increasingly described. Our study…”
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment by BRUNETTI-PIERRI, Nicola, PACIORKOWSKI, Alex R, RUIVENKAMP, Claudia, BERTRAND, Mary, DE RAVEL, Thomy Jl, JAYAKAR, Parul, BELLI, Serena, ROCCHETTI, Katia, PANTALEONI, Chiara, D'ARRIGO, Stefano, HUGHES, Jeff, SAU WAI CHEUNG, CICCONE, Roberto, ZUFFARDI, Orsetta, STANKIEWICZ, Pawel, MINA, Erika Della, BONAGLIA, Maria Clara, BORGATTI, Renato, SCHAAF, Christian P, SUTTON, V. Reid, ZHILIAN XIA, JELLUMA, Naftha

“…Genome-wide high-resolution array analysis is rapidly becoming a reliable method of diagnostic investigation in individuals with mental retardation and…”
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Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association by Vetro, Annalisa, Iascone, Maria, Limongelli, Ivan, Ameziane, Najim, Gana, Simone, Mina, Erika Della, Giussani, Ursula, Ciccone, Roberto, Forlino, Antonella, Pezzoli, Laura, Rooimans, Martin A., van Essen, Antoni J., Messa, Jole, Rizzuti, Tommaso, Bianchi, Paolo, Dorsman, Josephine, de Winter, Johan P., Lalatta, Faustina, Zuffardi, Orsetta

“…ABSTRACT The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in…”
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Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation by Di Fonzo, Alessio, Ronchi, Dario, Gallia, Francesca, Cribiù, Fulvia Milena, Trezzi, Ilaria, Vetro, Annalisa, Della Mina, Erika, Limongelli, Ivan, Bellazzi, Riccardo, Ricca, Ivana, Micieli, Giuseppe, Fassone, Elisa, Rizzuti, Mafalda, Bordoni, Andreina, Fortunato, Francesco, Salani, Sabrina, Mora, Gabriele, Corti, Stefania, Ceroni, Mauro, Bosari, Silvano, Zuffardi, Orsetta, Bresolin, Nereo, Nobile-Orazio, Eduardo, Comi, Giacomo Pietro

“…OBJECTIVE:To investigate the molecular defect underlying a large Italian kindred with progressive adult-onset respiratory failure, proximal weakness of the…”
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Cognitive and Behavioral Phenotype of a Young Man With a Chromosome 13 Deletion del(13)(q21.32q31.1) by MATUTE, Esmeralda, INOZEMTSEVA, Olga, AGUILAR-LEMARROY, Adriana, JAVE-SUAREZ, Luis F, MINA, Erika Della, ZUFFARDI, Orsetta, RIVIERA, Horacio

“…Cognitive, emotional, and behavioral characterizations have been reported for patients with a few chromosomal imbalances, but not for patients with a 13q…”
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Common structural features characterize interstitial intrachromosomal Xp and 18q triplications by Giorda, Roberto, Beri, Silvana, Bonaglia, M. Clara, Spaccini, Luigina, Scelsa, Barbara, Manolakos, Emmanouil, Mina, Erika Della, Ciccone, Roberto, Zuffardi, Orsetta

“…Rare intrachromosomal triplications producing partial tetrasomies have been reported for a number of chromosomes. A detailed molecular characterization,…”
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Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm by Losa, Laura, Della Mina, Erika, Cisternino, Mariangela, Madè, Alexandra, Rossetti, Giulia, Bassi, Lorenzo Andrea, Pieri, Giovanni, Bayindir, Baran, Messa, Jole, Zuffardi, Orsetta, Ciccone, Roberto

“…We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH…”
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Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries by Huynh, Aimee, E Gray, Paul, Sullivan, Anna, Mackie, Joseph, Guerin, Antoine, Rao, Geetha, Pathmanandavel, Karrnan, Della Mina, Erika, Hollway, Georgina, Hobbs, Matthew, Enthoven, Karen, O’Young, Patrick, McManus, Sam, H. Wainwright, Luke, Higgins, Megan, Noon, Fallon, Wong, Melanie, Bastard, Paul, Zhang, Qian, Casanova, Jean-Laurent, Hsiao, Kuang-Chih, Pinzon-Charry, Alberto, S Ma, Cindy, G. Tangye, Stuart

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