Search Results - "Marongiu, Mara"

Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency by Marongiu, Mara, Crisponi, Laura, Uda, Manuela, Pelosi, Emanuele

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Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset by Forabosco, Paola, Pala, Mauro, Crobu, Francesca, Diana, Maria Antonietta, Marongiu, Mara, Cusano, Roberto, Angius, Andrea, Steri, Maristella, Orrù, Valeria, Schlessinger, David, Fiorillo, Edoardo, Devoto, Marcella, Cucca, Francesco

“…Gene co-expression network analysis enables identification of biologically meaningful clusters of co-regulated genes (modules) in an unsupervised manner. We…”
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SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies by Georges, Adrien, Benayoun, Bérénice A, Marongiu, Mara, Dipietromaria, Aurélie, L'Hôte, David, Todeschini, Anne-Laure, Auer, Jana, Crisponi, Laura, Veitia, Reiner A

“…FOXL2 is a transcription factor essential for ovarian development and maintenance. It is mutated in the genetic condition called Blepharophimosis Ptosis…”
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The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity by Marongiu, Mara, Deiana, Manila, Meloni, Alessandra, Marcia, Loredana, Puddu, Alessandro, Cao, Antonio, Schlessinger, David, Crisponi, Laura

“…The FOXL2 forkhead transcription factor is expressed in ovarian granulosa cells, and mutated FOXL2 causes the blepharophimosis, ptosis and epicanthus inversus…”
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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1 by Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nürnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Höhne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nürnberg, Peter, Rutsch, Frank

“…Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling…”
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Complex genetic signatures in immune cells underlie autoimmunity and inform therapy by Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, Cucca, Francesco

“…We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of 3,757 Sardinians. We detected 122 significant ( P  < 1.28 × 10 −11…”
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Overexpression of the Cytokine BAFF and Autoimmunity Risk by Steri, Maristella, Orrù, Valeria, Idda, M. Laura, Pitzalis, Maristella, Pala, Mauro, Zara, Ilenia, Sidore, Carlo, Faà, Valeria, Floris, Matteo, Deiana, Manila, Asunis, Isadora, Porcu, Eleonora, Mulas, Antonella, Piras, Maria G, Lobina, Monia, Lai, Sandra, Marongiu, Mara, Serra, Valentina, Marongiu, Michele, Sole, Gabriella, Busonero, Fabio, Maschio, Andrea, Cusano, Roberto, Cuccuru, Gianmauro, Deidda, Francesca, Poddie, Fausto, Farina, Gabriele, Dei, Mariano, Virdis, Francesca, Olla, Stefania, Satta, Maria A, Pani, Mario, Delitala, Alessandro, Cocco, Eleonora, Frau, Jessica, Coghe, Giancarlo, Lorefice, Lorena, Fenu, Giuseppe, Ferrigno, Paola, Ban, Maria, Barizzone, Nadia, Leone, Maurizio, Guerini, Franca R, Piga, Matteo, Firinu, Davide, Kockum, Ingrid, Lima Bomfim, Izaura, Olsson, Tomas, Alfredsson, Lars, Suarez, Ana, Carreira, Patricia E, Castillo-Palma, Maria J, Marcus, Joseph H, Congia, Mauro, Angius, Andrea, Melis, Maurizio, Gonzalez, Antonio, Alarcón Riquelme, Marta E, da Silva, Berta M, Marchini, Maurizio, Danieli, Maria G, Del Giacco, Stefano, Mathieu, Alessandro, Pani, Antonello, Montgomery, Stephen B, Rosati, Giulio, Hillert, Jan, Sawcer, Stephen, D’Alfonso, Sandra, Todd, John A, Novembre, John, Abecasis, Gonçalo R, Whalen, Michael B, Marrosu, Maria G, Meloni, Alessandra, Sanna, Serena, Gorospe, Myriam, Schlessinger, David, Fiorillo, Edoardo, Zoledziewska, Magdalena, Cucca, Francesco

“…Genetic analysis revealed a gene variant in the Sardinian population that was associated with autoimmune disease. In the variant gene, a deletion yielded a…”
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Novel action of FOXL2 as mediator of Col1a2 gene autoregulation by Marongiu, Mara, Deiana, Manila, Marcia, Loredana, Sbardellati, Andrea, Asunis, Isadora, Meloni, Alessandra, Angius, Andrea, Cusano, Roberto, Loi, Angela, Crobu, Francesca, Fotia, Giorgio, Cucca, Francesco, Schlessinger, David, Crisponi, Laura

“…FOXL2 belongs to the evolutionarily conserved forkhead box (FOX) superfamily and is a master transcription factor in a spectrum of developmental pathways,…”
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Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia by Sanna, Serena, Busonero, Fabio, Maschio, Andrea, McArdle, Patrick F., Usala, Gianluca, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Piras, Maria Grazia, Perseu, Lucia, Masala, Marco, Marongiu, Mara, Crisponi, Laura, Naitza, Silvia, Galanello, Renzo, Abecasis, Gonçalo R., Shuldiner, Alan R., Schlessinger, David, Cao, Antonio, Uda, Manuela

“…Bilirubin, resulting largely from the turnover of hemoglobin, is found in the plasma in two main forms: unconjugated or conjugated with glucuronic acid…”
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Population- and individual-specific regulatory variation in Sardinia by Pala, Mauro, Zappala, Zachary, Marongiu, Mara, Li, Xin, Davis, Joe R, Cusano, Roberto, Crobu, Francesca, Kukurba, Kimberly R, Gloudemans, Michael J, Reinier, Frederic, Berutti, Riccardo, Piras, Maria G, Mulas, Antonella, Zoledziewska, Magdalena, Marongiu, Michele, Sorokin, Elena P, Hess, Gaelen T, Smith, Kevin S, Busonero, Fabio, Maschio, Andrea, Steri, Maristella, Sidore, Carlo, Sanna, Serena, Fiorillo, Edoardo, Bassik, Michael C, Sawcer, Stephen J, Battle, Alexis, Novembre, John, Jones, Chris, Angius, Andrea, Abecasis, Gonçalo R, Schlessinger, David, Cucca, Francesco, Montgomery, Stephen B

“…Francesco Cucca, Stephen Montgomery and colleagues identify regulatory variants that influence gene expression and splicing using whole-genome and…”
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Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy by Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, Cucca, Francesco

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice by Marongiu, Mara, Marcia, Loredana, Pelosi, Emanuele, Lovicu, Mario, Deiana, Manila, Zhang, Yonqing, Puddu, Alessandro, Loi, Angela, Uda, Manuela, Forabosco, Antonino, Schlessinger, David, Crisponi, Laura

“…Haploinsufficiency of the FOXL2 transcription factor in humans causes Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES), characterized by eyelid…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

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Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders by HERHOLZ, Jana, MELONI, Alessandra, CRISPONI, Giangiorgio, CRISPONI, Laura, RUTSCH, Frank, MARONGIU, Mara, CHIAPPE, Francesca, DEIANA, Manila, HERRERO, Carmen Roche, ZAMPINO, Giuseppe, HAMAMY, Hanan, ZALLOUM, Yusra, WAALER, Per Erik

“…Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical…”
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Withania somnifera Prevents Morphine Withdrawal-Induced Decrease in Spine Density in Nucleus Accumbens Shell of Rats: A Confocal Laser Scanning Microscopy Study by Kasture, Sanjay, Vinci, Stefania, Ibba, Federico, Puddu, Alessandro, Marongiu, Mara, Murali, Balasubramanian, Pisanu, Augusta, Lecca, Daniele, Zernig, Gerald, Acquas, Elio

“…Opiate withdrawal is associated with morphological changes of dopamine neurons in the ventral tegmental area and with reduction of spine density of…”
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