Search Results - "Crisponi, Laura"

CRLF1 and CLCF1 in Development, Health and Disease by Crisponi, Laura, Buers, Insa, Rutsch, Frank

“…Cytokines and their receptors have a vital function in regulating various processes such as immune function, inflammation, haematopoiesis, cell growth and…”
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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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Hodgkin lymphoma after disseminated Mycobacterium genavense infection, Germany by Trauth, Janina, Discher, Thomas, Fritzenwanker, Moritz, Imirzalioglu, Can, Arnold, Tobias, Steiner, Dagmar, Richter, Elvira, Crisponi, Laura, Grimbacher, Bodo, Herold, Susanne

“…Mycobacterium genavense infection, a rare nontuberculous mycobacteria infection, occurs in heavily immunocompromised patients (i.e., those with advanced HIV…”
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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia by Uda, Manuela, Galanello, Renzo, Sanna, Serena, Lettre, Guillaume, Sankaran, Vijay G, Chen, Weimin, Usala, Gianluca, Busonero, Fabio, Maschio, Andrea, Albai, Giuseppe, Piras, Maria Grazia, Sestu, Natascia, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Crisponi, Laura, Naitza, Silvia, Asunis, Isadora, Deiana, Manila, Nagaraja, Ramaiah, Perseu, Lucia, Satta, Stefania, Cipollina, Maria Dolores, Sollaino, Carla, Moi, Paolo, Hirschhorn, Joel N, Orkin, Stuart H, Abecasis, Gonçalo R, Schlessinger, David, Cao, Antonio

“…β-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian diseases…”
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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy by Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio

“…Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only…”
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A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation by Naitza, Silvia, Porcu, Eleonora, Steri, Maristella, Taub, Dennis D, Mulas, Antonella, Xiao, Xiang, Strait, James, Dei, Mariano, Lai, Sandra, Busonero, Fabio, Maschio, Andrea, Usala, Gianluca, Zoledziewska, Magdalena, Sidore, Carlo, Zara, Ilenia, Pitzalis, Maristella, Loi, Alessia, Virdis, Francesca, Piras, Roberta, Deidda, Francesca, Whalen, Michael B, Crisponi, Laura, Concas, Antonio, Podda, Carlo, Uzzau, Sergio, Scheet, Paul, Longo, Dan L, Lakatta, Edward, Abecasis, Gonçalo R, Cao, Antonio, Schlessinger, David, Uda, Manuela, Sanna, Serena, Cucca, Francesco

“…Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate the mechanisms underlying this process. We first conducted a…”
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The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts by Li, Siguang, Sanna, Serena, Maschio, Andrea, Busonero, Fabio, Usala, Gianluca, Mulas, Antonella, Lai, Sandra, Dei, Mariano, Orrù, Marco, Albai, Giuseppe, Bandinelli, Stefania, Schlessinger, David, Lakatta, Edward, Scuteri, Angelo, Najjar, Samer S, Guralnik, Jack, Naitza, Silvia, Crisponi, Laura, Cao, Antonio, Abecasis, Gonçalo, Ferrucci, Luigi, Uda, Manuela, Chen, Wei-Min, Nagaraja, Ramaiah

“…High serum uric acid levels elevate pro-inflammatory-state gout crystal arthropathy and place individuals at high risk for cardiovascular morbidity and…”
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Foxl2 is required for commitment to ovary differentiation by Ottolenghi, Chris, Omari, Shakib, Garcia-Ortiz, J. Elias, Uda, Manuela, Crisponi, Laura, Forabosco, Antonino, Pilia, Giuseppe, Schlessinger, David

“…Genetic control of female sex differentiation from a bipotential gonad in mammals is poorly understood. We find that mouse XX gonads lacking the forkhead…”
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Genetics of serum BDNF: Meta-analysis of the Val66Met and genome-wide association study by Terracciano, Antonio, Piras, Maria Grazia, Lobina, Monia, Mulas, Antonella, Meirelles, Osorio, Sutin, Angelina R., Chan, Wayne, Sanna, Serena, Uda, Manuela, Crisponi, Laura, Schlessinger, David

“…Abstract Objectives. Lower levels of serum brain derived neurotrophic factor (BDNF) is one of the best known biomarkers of depression. To identify genetic…”
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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome by Marzella, Rosalia, Uda, Manuela, Rocchi, Mariano, Loi, Angela, Bonneau, Dominique, Cao, Antonio, Chiappe, Francesca, Gasparini, Paolo, Crisponi, Laura, Deiana, Manila, Schlessinger, David, Porcu, Susanna, Pilia, Giuseppe, Nicolino, Marc, Bisceglia, Luigi, Amati, Patrizia, Zelante, Leopoldo, Nagaraja, Ramaiah, Serafina Ristaldi, M, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain

“…In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the…”
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Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual by Schöning, Lara, Loges, Niki Tomas, Nitschke, Yvonne, Höben, Inga Marlena, Röpke, Albrecht, Crisponi, Laura, Omran, Heymut, Rutsch, Frank, Buers, Insa

“…Cytokine receptor like factor 1 (CRLF1) is the gene implicated, when mutated, in Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1). Here, we…”
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Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line by Buers, Insa, Schöning, Lara, Tomas Loges, Niki, Nitschke, Yvonne, Höben, Inga Marlena, Röpke, Albrecht, Crisponi, Laura, Omran, Heymut, Rutsch, Frank

“…Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2…”
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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report by Alves, Rita Maria, Uva, Paolo, Veiga, Marielza F, Oppo, Manuela, Zschaber, Fabiana C R, Porcu, Giampiero, Porto, Henrique P, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Atzeni, Rossano, Vieira, Lauro C N, Pires, Marcos V A, Cucca, Francesco, Toralles, Maria Betânia P, Angius, Andrea, Crisponi, Laura

“…KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short…”
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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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Determination and stability of sex by Ottolenghi, Chris, Uda, Manuela, Crisponi, Laura, Omari, Shakib, Cao, Antonio, Forabosco, Antonino, Schlessinger, David

“…How is the embryonic bipotential gonad regulated to produce either an ovary or a testis? In males, transient early activation of the Y chromosome Sry gene…”
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Aging of Oocyte, Ovary, and Human Reproduction by OTTOLENGHI, CHRIS, UDA, MANUELA, HAMATANI, TOSHIO, CRISPONI, LAURA, GARCIA, JOSE-ELIAS, KO, MINORU, PILIA, GIUSEPPE, SFORZA, CHIARELLA, SCHLESSINGER, DAVID, FORABOSCO, ANTONINO

“…: We review age‐related changes in the ovary and their effect on female fertility, with particular emphasis on follicle formation, follicle dynamics, and…”
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Overgrowth of a Mouse Model of the Simpson–Golabi–Behmel Syndrome Is Independent of IGF Signaling by Chiao, Eric, Fisher, Peter, Crisponi, Laura, Deiana, Manila, Dragatsis, Ioannis, Schlessinger, David, Pilia, Giuseppe, Efstratiadis, Argiris

“…The type 1 Simpson–Golabi–Behmel overgrowth syndrome (SGBS1) is caused by loss-of-function mutations of the X-linked GPC3 gene encoding glypican-3, a…”
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Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus by Thomas, Niranjan, Danda, Sumita, Kumar, Manish, Jana, Atanu Kumar, Crisponi, Giangiorgio, Meloni, Alessandra, Crisponi, Laura

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