Suchergebnisse - "Crisponi, Laura"

Hodgkin lymphoma after disseminated Mycobacterium genavense infection, Germany von 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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Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency von Marongiu, Mara, Crisponi, Laura, Uda, Manuela, Pelosi, Emanuele

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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia von 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

“… beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian …”
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A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy von 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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Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1 von Calà, Federico, Sforza, Elisabetta, D’Alatri, Lucia, Frassineti, Lorenzo, Manfredi, Claudia, Onesimo, Roberta, Rigante, Donato, Pane, Marika, Servidei, Serenella, Primiano, Guido, Crisponi, Giangiorgio, Crisponi, Laura, Leoni, Chiara, Lanatà, Antonio, Zampino, Giuseppe

“… Background: Perceptual analysis has highlighted that the voice characteristics of patients with rare congenital genetic syndromes differ from those of …”
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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 von 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 von 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 von 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 von 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 von Crisponi, Laura, Deiana, Manila, Loi, Angela, Chiappe, Francesca, Uda, Manuela, Amati, Patrizia, Bisceglia, Luigi, Zelante, Leopoldo, Nagaraja, Ramaiah, Porcu, Susanna, Serafina Ristaldi, M., Marzella, Rosalia, Rocchi, Mariano, Nicolino, Marc, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain, Schlessinger, David, Gasparini, Paolo, Bonneau, Dominique, Cao, Antonio, Pilia, Giuseppe

“… 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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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report von 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

“… Background KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, …”
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Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual von 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 von 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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SUMOylation of the Forkhead Transcription Factor FOXL2 Promotes Its Stabilization/Activation through Transient Recruitment to PML Bodies von 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 von 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 von Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nurnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Hohne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nurnberg, 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 von 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 von 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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CRLF1 and CLCF1 in Development, Health and Disease von 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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Overgrowth of a Mouse Model of the Simpson–Golabi–Behmel Syndrome Is Independent of IGF Signaling von 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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