Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Angelantonio, Notarangelo"'
Autor:
Daniele Pollini, Rosa Loffredo, Marina Cardano, Luciano Conti, Serena Lattante, Angelantonio Notarangelo, Mario Sabatelli, Alessandro Provenzani
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 146-150 (2018)
Fibroblasts isolated from an Amyotrophic Lateral Sclerosis (ALS)-patient carrying a mutation in Matrin-3 (p.Q66K -MATR3) gene were reprogrammed to the pluripotency stage by using non-integrating episomal plasmids. We generated the Q66K#44DRM induced
Externí odkaz:
https://doaj.org/article/43ea32276e9c41f0b9f93725601b2c25
Autor:
Carmela Fusco, Grazia Nardella, Bartolomeo Augello, Francesca Boccafoschi, Orazio Palumbo, Luca Fusaro, Angelantonio Notarangelo, Raffaela Barbano, Paola Parrella, Giuseppina Annicchiarico, Carmela De Meco, Lucia Micale, Paolo Graziano, Marco Castori
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 14, p 5141 (2020)
Transforming growth factor β (TGF-β) superfamily signaling pathways are ubiquitous and essential for several cellular and physiological processes. The overexpression of TGF-β results in excessive fibrosis in multiple human disorders. Among them, s
Externí odkaz:
https://doaj.org/article/4c7d3d3b8b65421cb6f73157dd6d036e
Autor:
Aldo E. Calogero, Rossella Cannarella, Matteo Bertelli, Giuseppe Marceddu, Vincenza Precone, Giulia Guerri, Francesca Cristofoli, Leonardo D'Agruma, Stefano Paolacci, Marco Castori, Angelantonio Notarangelo
Publikováno v:
Minerva Endocrinology. 47
Background Infertility is a disorder of the male and/or female reproductive system, characterized by failure to establish a clinical pregnancy after 12 months of regular unprotected sexual intercourse. On a world basis, about one in six couplesare af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49fc4d5f3e5392070f0155cfdf607f7c
https://doi.org/10.23736/s2724-6507.21.03477-1
https://doi.org/10.23736/s2724-6507.21.03477-1
Autor:
Stefano Castellana, Luigia Cinque, Luigi Bisceglia, Angelantonio Notarangelo, Marco Castori, Tommaso Biagini, Domenica Taruscio, Lucia Micale, Marco Salvatore, Samantha Cialfi, Claudio Talora, Carmela Fusco
Publikováno v:
Human Molecular Genetics. 29:3122-3131
SPONASTRIME dysplasia is an ultrarare spondyloepimetaphyseal dysplasia featuring short stature and short limbs, platyspondyly, depressed nasal bridge with midface hypoplasia and striated metaphyses. In 2019, an autosomal recessive inheritance was dem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4090ff7e425266d4381069062fa6be65
https://doi.org/10.1093/hmg/ddaa195
https://doi.org/10.1093/hmg/ddaa195
Autor:
Elena Manara, Luigia Cinque, Orazio Palumbo, Matteo Bertelli, Lucia Micale, Simona Bianco, Mario Nicodemi, Marco Castori, Angelantonio Notarangelo, Maria Grazia Giuffrida, Laura Bernardini, Andrea M. Chiariello, Giulia Guerri, Andrea Esposito
Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5' regulatory element of SOX9. To date, six CS families were resolved at the molecular level. Subsequent studies explored th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9758f3bfda95170e8e4443b1c2996cbd
http://hdl.handle.net/11588/863973
http://hdl.handle.net/11588/863973
Autor:
Luigia, Cinque, Lucia, Micale, Elena, Manara, Andrea, Esposito, Orazio, Palumbo, Andrea Maria, Chiariello, Simona, Bianco, Giulia, Guerri, Matteo, Bertelli, Maria Grazia, Giuffrida, Laura, Bernardini, Angelantonio, Notarangelo, Mario, Nicodemi, Marco, Castori
Publikováno v:
Human genetics. 141(2)
Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5' regulatory element of SOX9. To date, six CS families were resolved at the molecular level. Subsequent studies explored th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::031d51c068a7dd102e0e12d7e6399f33
https://pubmed.ncbi.nlm.nih.gov/34821995
https://pubmed.ncbi.nlm.nih.gov/34821995
Autor:
Rocco Pio Ortore, Maria Pina Concas, Anna Morgan, Angelantonio Notarangelo, Paola Tesolin, Michela Notarangelo, Giorgia Girotto
Publikováno v:
Genes, Vol 12, Iss 1043, p 1043 (2021)
Genes
Genes
Hearing loss (HL) is the most frequent sensory disorder, affecting about 1–3 per 1000 live births, with more than half of the cases attributable to genetic causes. Despite the fact that many HL causative genes have already been identified, current
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2d3469ed25c6074e4b51eb97392d8f9
http://hdl.handle.net/11368/2993658
http://hdl.handle.net/11368/2993658
Autor:
Aysha Karim, Kiani, Stefano, Paolacci, Pietro, Scanzano, Sandro, Michelini, Natale, Capodicasa, Leonardo, D'Agruma, Angelantonio, Notarangelo, Gerolamo, Tonini, Daniela, Piccinelli, Kalantary Rad, Farshid, Paolo, Petralia, Ezio, Fulcheri, Pietro, Chiurazzi, Corrado, Terranova, Francesco, Plotti, Roberto, Angioli, Marco, Castori, Matteo, Bertelli
Publikováno v:
Acta Bio Medica : Atenei Parmensis
Background and aim: Infertility affects ~20% of the couples in the world. Assisted reproductive technologies (ARTs) are currently the most common treatment option for infertility. Nevertheless, ARTs may be associated with complications for mothers an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::299a3f5acf37f08a51985838f21f18e1
http://hdl.handle.net/11567/1036701
http://hdl.handle.net/11567/1036701
Autor:
Carmela Fusco, Marco Castori, Emma M. Wade, Tommaso Biagini, Angelantonio Notarangelo, Lucia Micale, Gianluigi Mazzoccoli, Annalisa Schirizzi, Marina Colombi, Vincenzo Giambra, Paola Grammatico, Grazia Nardella, Marco Ritelli, Tommaso Mazza, Silvia Morlino, Annalucia Carbone, Nicoletta Zoppi
Transforming growth factor beta-activated kinase 1 (TAK1) is a highly conserved kinase protein encoded by MAP3K7, and activated by multiple extracellular stimuli, growth factors and cytokines. Heterozygous variants in MAP3K7 cause the cardiospondyloc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da4f9df3beb492ed0365ffe41cf6480
http://hdl.handle.net/11379/528277
http://hdl.handle.net/11379/528277
Autor:
Matteo Bertelli, Angelantonio Notarangelo, Alessandra Zulian, Yeltay Rakhmanov, Paolo Enrico Maltese
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 22-25 (2018)
Cystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9386e72e30ffa2afd794a2ac3e306a9
https://doaj.org/article/6cf6c8606a3a43c9adb4ba44dd574643
https://doaj.org/article/6cf6c8606a3a43c9adb4ba44dd574643