Search

Your search keyword '"Saponari, Anita"' showing total 10 results
Start Over Author "Saponari, Anita"
10 results on '"Saponari, Anita"'

1. Influenza vaccination coverage among medical residents: An Italian multicenter survey

Author

Costantino, Claudio, Mazzucco, Walter, Azzolini, Elena, Baldini, Cesare, Bergomi, Margherita, Biafiore, Alessio Daniele, Bianco, Manuela, Borsari, Lucia, Cacciari, Paolo, Cadeddu, Chiara, Camia, Paola, Carluccio, Eugenia, Conti, Andrea, De Waure, Chiara, Di Gregori, Valentina, Fabiani, Leila, Fallico, Roberto, Filisetti, Barbara, Flacco, Maria E, Franco, Elisabetta, Furnari, Roberto, Galis, Veronica, Gallea, Maria R, Gallone, Maria F, Gallone, Serena, Gelatti, Umberto, Gilardi, Francesco, Giuliani, Anna R, Grillo, Orazio C, Lanati, Niccolò, Mascaretti, Silvia, Mattei, Antonella, Micò, Rocco, Morciano, Laura, Nante, Nicola, Napoli, Giuseppe, Nobile, Carmelo, Palladino, Raffaele, Parisi, Salvatore, Passaro, Maria, Pelissero, Gabriele, Quarto, Michele, Ricciardi, Walter, Romano, Gabriele, Rustico, Ennio, Saponari, Anita, Schioppa, Francesco S, Signorelli, Carlo, Siliquini, Roberta, Trabacchi, Valeria, Triassi, Maria, Varetta, Alessia, Ziglio, Andrea, Zoccali, Angela, Vitale, Francesco, and Amodio, Emanuele

Published
2014
Full Text
View/download PDF

4. Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Author

Rainger, Joe, primary, van Beusekom, Ellen, additional, Ramsay, Jacqueline K., additional, McKie, Lisa, additional, Al-Gazali, Lihadh, additional, Pallotta, Rosanna, additional, Saponari, Anita, additional, Branney, Peter, additional, Fisher, Malcolm, additional, Morrison, Harris, additional, Bicknell, Louise, additional, Gautier, Philippe, additional, Perry, Paul, additional, Sokhi, Kishan, additional, Sexton, David, additional, Bardakjian, Tanya M., additional, Schneider, Adele S., additional, Elcioglu, Nursel, additional, Ozkinay, Ferda, additional, Koenig, Rainer, additional, Mégarbané, Andre, additional, Semerci, C. Nur, additional, Khan, Ayesha, additional, Zafar, Saemah, additional, Hennekam, Raoul, additional, Sousa, Sérgio B., additional, Ramos, Lina, additional, Garavelli, Livia, additional, Furga, Andrea Superti, additional, Wischmeijer, Anita, additional, Jackson, Ian J., additional, Gillessen-Kaesbach, Gabriele, additional, Brunner, Han G., additional, Wieczorek, Dagmar, additional, van Bokhoven, Hans, additional, and FitzPatrick, David R., additional

Published
2018
Full Text
View/download PDF

5. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Author

Rainger, Joe, Beusekom, Ellen van, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul C., Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele Gertrud, Brunner, Han G., Wieczorek, Dagmar, Bokhoven, Hans van, FitzPatrick, David R., Rainger, Joe, Beusekom, Ellen van, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul C., Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele Gertrud, Brunner, Han G., Wieczorek, Dagmar, Bokhoven, Hans van, and FitzPatrick, David R.

Abstract

Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families. Four of these mutations are nonsense, two frame-shift, and two missense. The missense mutations are both in the second Thyroglobulin Type-1 (Tg1) domain of the protein. The orthologous gene in the mouse, Smoc1, shows site- and stage-specific expression during eye, limb, craniofacial, and somite development. We also report a targeted pre-conditional gene-trap mutation of Smoc1 (Smoc1tm1a) that reduces mRNA to ~10% of wild-type levels. This gene-trap results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals (Smoc1tm1a/tm1a). Eye malformations, most commonly coloboma, and cleft palate occur in a significant proportion of Smoc1tm1a/tm1a embryos and pups. Thus partial loss of Smoc-1 results in a convincing phenocopy of the human disease. SMOC-1 is one of the two mammalian paralogs of Drosophila Pentagone, an inhibitor of decapentaplegic. The orthologous gene in Xenopus laevis, Smoc-1, also functions as a Bone Morphogenic Protein (BMP) antagonist in early embryogenesis. Loss of BMP antagonism during mammalian development provides a plausible explanation for both the limb and eye phenotype in humans and mice.

Published
2011

6. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Author

Rainger, Joe, primary, van Beusekom, Ellen, additional, Ramsay, Jacqueline K., additional, McKie, Lisa, additional, Al-Gazali, Lihadh, additional, Pallotta, Rosanna, additional, Saponari, Anita, additional, Branney, Peter, additional, Fisher, Malcolm, additional, Morrison, Harris, additional, Bicknell, Louise, additional, Gautier, Philippe, additional, Perry, Paul, additional, Sokhi, Kishan, additional, Sexton, David, additional, Bardakjian, Tanya M., additional, Schneider, Adele S., additional, Elcioglu, Nursel, additional, Ozkinay, Ferda, additional, Koenig, Rainer, additional, Mégarbané, Andre, additional, Semerci, C. Nur, additional, Khan, Ayesha, additional, Zafar, Saemah, additional, Hennekam, Raoul, additional, Sousa, Sérgio B., additional, Ramos, Lina, additional, Garavelli, Livia, additional, Furga, Andrea Superti, additional, Wischmeijer, Anita, additional, Jackson, Ian J., additional, Gillessen-Kaesbach, Gabriele, additional, Brunner, Han G., additional, Wieczorek, Dagmar, additional, van Bokhoven, Hans, additional, and FitzPatrick, David R., additional

Published
2011
Full Text
View/download PDF

7. Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts

Author

Avnet, Sofia, primary, Pallotta, Rosanna, additional, Perut, Francesca, additional, Baldini, Nicola, additional, Pittis, Maria Gabriela, additional, Saponari, Anita, additional, Lucarelli, Enrico, additional, Dozza, Barbara, additional, Greggi, Tiziana, additional, Maraldi, Nadir M., additional, Capanni, Cristina, additional, Mattioli, Elisabetta, additional, Columbaro, Marta, additional, and Lattanzi, Giovanna, additional

Published
2011
Full Text
View/download PDF

9. Classical lissencephaly associated with dolichocephaly, hair and nail defect

Author

Celentano, Claudio, Zannolli, Raffaella, Buoni, Sabrina, Domizio, Sergio, Sabatino, Giuseppe, Colosimo, Cesare, Saponari, Anita, Pallotta, Rosanna, Swift, James A., Rotmensch, Sigi, and Liberati, Marco

Subjects
*INTELLECTUAL disabilities, *DIAGNOSIS, *PRENATAL diagnosis, *PHENOTYPES
Abstract

Abstract: We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition. [Copyright &y& Elsevier]

Published
2006
Full Text
View/download PDF

10. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Author

Kishan Sokhi, Jacqueline Ramsay, Tanya Bardakjian, Adele Schneider, Nursel Elcioglu, Raoul C.M. Hennekam, C. Nur Semerci, Ferda Ozkinay, Joe Rainger, David Sexton, Andrea Superti Furga, Anita Saponari, Lina Ramos, Ellen van Beusekom, Malcolm E. Fisher, Gabriele Gillessen-Kaesbach, Anita Wischmeijer, Ian J. Jackson, Sérgio B. Sousa, Hans van Bokhoven, Rainer Koenig, Lihadh Al-Gazali, Paul Perry, Peter Branney, Louise S. Bicknell, Harris Morrison, Livia Garavelli, Dagmar Wieczorek, André Mégarbané, Rosanna Pallotta, Han G. Brunner, Lisa McKie, Saemah Nuzhat Zafar, Philippe Gautier, Ayesha Khan, David R. FitzPatrick, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, Ege Üniversitesi, Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Megarbane, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sergio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R., and Faculteit der Geneeskunde

Subjects
ANOMALIES, DNA Mutational Analysis, PROTEIN, anophthalmia, gene targeting, Bone Morphogenetic Protein 1, hindlimb, Mice, Xenopus laevis, genetic linkage, BINDING, genetics, Waardenburg's Syndrome, Waardenburg Syndrome, clinical article, C57BL mouse, adult, Mus, microsatellite marker, DEFECTS, gene expression regulation, Disease gene identification, BMP1 protein, human, Pedigree, Medicine, down regulation, mutational analysis, drug antagonism, medicine.medical_specialty, SMOC1 protein, human, embryo, Bone morphogenetic protein, animal tissue, loss of function mutation, Smoc1 gene, Genetics, Humans, human, Biology, Molecular Biology, Waardenburg syndrome, mouse, Ecology, Evolution, Behavior and Systematics, MUTATIONS, animal model, Correction, SMOC-1 protein, mouse, school child, medicine.disease, Mice, Inbred C57BL, Human Reproduction [NCEBP 12], gene function, Endocrinology, decapentaplegic protein, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Mutation, Cancer Research, frameshift mutation, Medizin, nonsense mutation, Gene Expression, mouse mutant, Eye, Bmp1 protein, mouse, Autosomal Recessive, bone morphogenetic protein, Missense mutation, animal, Osteonectin, SPECIFICATION, Genetics (clinical), RECESSIVE ANOPHTHALMIA, limb, cleft palate, Mice, Knockout, child, Coloboma, ABNORMALITIES, messenger RNA, article, pedigree, female, Mammalia, Models, Animal, Drosophila, Research Article, gene locus, lcsh:QH426-470, Nonsense mutation, procollagen C proteinase, male, ddc:570, Internal medicine, medicine, Animalia, Animals, gene, SMOC 1 protein, mouse, gene identification, growth, development and aging, Clinical Genetics, Phenocopy, nonhuman, Anophthalmia, missense mutation, syndactyly, Anophthalmos, nucleotide sequence, Human Genetics, Extremities, infant, lcsh:Genetics, XENOPUS, CELL-DEATH, adolescent, Genetics of Disease, Syndactyly, homozygosity, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], metabolism, Animal Genetics
Abstract

WOS: 000293338600004, PubMed ID: 21750680, Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families. Four of these mutations are nonsense, two frame-shift, and two missense. The missense mutations are both in the second Thyroglobulin Type-1 (Tg1) domain of the protein. The orthologous gene in the mouse, Smoc1, shows site-and stage-specific expression during eye, limb, craniofacial, and somite development. We also report a targeted pre-conditional gene-trap mutation of Smoc1 (Smoc(1tm1a)) that reduces mRNA to similar to 10% of wild-type levels. This gene-trap results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals (Smoc(1tm1a/tm1a)). Eye malformations, most commonly coloboma, and cleft palate occur in a significant proportion of Smoc(1tm1a/tm1a) embryos and pups. Thus partial loss of Smoc-1 results in a convincing phenocopy of the human disease. SMOC-1 is one of the two mammalian paralogs of Drosophila Pentagone, an inhibitor of decapentaplegic. The orthologous gene in Xenopus laevis, Smoc-1, also functions as a Bone Morphogenic Protein (BMP) antagonist in early embryogenesis. Loss of BMP antagonism during mammalian development provides a plausible explanation for both the limb and eye phenotype in humans and mice., Medical Research Council (UK)Medical Research Council UK (MRC); Medical Research CouncilMedical Research Council UK (MRC) [MC_U127561093, MC_PC_U127561112, MC_U127561112], Funding for this project was provided as an intramural program grant from the Medical Research Council (UK). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Published
2011

Catalog

Books, media, physical & digital resources
See catalog results