Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes

Autor: Anna Papadopoulou, Evangelia Bountouvi

Publikováno v: Frontiers in Endocrinology, Vol 14 (2023)

Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these

Externí odkaz: https://doaj.org/article/cd41a0c77fbb4190b6ae856d87fa5056

Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part three

Autor: Erato Atsali, Dimitra Kassara, Pelagia Katsimbri, Sorina Boiu, Dimitrios T. Boumpas, Vana Papaevangelou, Olena A. Oshlyanska, Ludmila I. Omelchenko, Tatiana A. Ljudvik, Katerina Bouchalova, Marcel Schüller, Jana Franova, Jarmila Skotakova, Marie Macku, Antoni Fellas, Fiona Hawke, Derek Santos, Andrea Coda, Anthi Kelempisioti, Paula Keskitalo, Virpi Glumoff, Petri Kulmala, Paula Vahasalo, Mohammed A. Mozaffar, Asraa K. Turkistani, Samaa O. Sangoof, Vladislav Sevostyanov, Elena Zholobova, Evangelia Bountouvi, konstantinos Theodoropoulos, Renata Moutsiou, Christina Tsalapaki, Talia Diaz, Sofia Osorio, Maria Teresa Braña, Yuridiana Ramirez, Luis Aparicio, Andres Rodriguez, Enrique Faugier, Rocio Maldonado, Maria Francesca Gicchino, Carmela Granato, Giulia Macchini, Daniela Capalbo, Alma Nunzia Olivieri, Nathan Hasson, Achille Marino, Sona Narula, Melissa Lerman, Maria Amelia Muñoz Calonge, Sara Maria Murias Loza, Rosa Maria Alcobendas, Agustin Remesal, Esmeralda Núñez-Cuadros, Rocio Galindo Zavala, Gisela Díaz-Cordovés Rego, Cristina Antúnez Fernández, Yaiza García Molina, Antonio L. Urda Cardona, Nihal Sahin, Habibe S. Durmus, Ayse S. Pinarbasi, Zubeyde Gunduz, Muammer H. Poyrazoglu, Zehra F. Karaman, Turhan Oktem, Mithat Oner, Ruhan Dusunsel, Gordana Susic, Tamara Krstajic, Dragana Vujovic, Nedeljko Radlovic, Zoran Lekovic, Dusica Novakovic, Gordana Milosevski Lomic, Karina Mördrup, Gunilla Hesselstrand, Iva Sorić, Lovro Lamot, Mandica Vidovic, Mirta Lamot, Miroslav Harjacek, Eva Adank, Elvira Cannizzaro Schneider, Eiman Abdalla, Irfan Ullah, L. Jeyaseelan, Reem Abdwani, Laila A. L. Shaqsi, Ibrahim A. l. Zakwani, Antonis Fanouriakis, Mahesh Janarthanan, Dhanarathnamoorthy Vetrichelvan, P. Ramachandran, Sangeetha Geminiganesan, Dinesh Kumar, Subba Rao, Eleni-Maria Papatesta, Despoina Maritsi, Irini Eleftheriou, Maria Tsolia, Olga Vougiouka, Mustafa Çakan, Nuray Aktay Ayaz, Şerife Gül Karadağ, Gonca Keskindemirci, Vladimir Keltsev, Lyudmila Grebenkina, Kwang Nam Kim, Jong Gyun Ahn, Young Dae Kim, Maria Cristina Maggio, Rolando Cimaz, Maria Concetta Failla, Piera Dones, Mirella Collura, Giovanni Corsello, Jung-Woo Rhim, Ki-Hwan Kim, Soo-Young Lee, Seung-Beom Han, Jin-Han Kang, Jae-Hee Chung, Soo-Jung Lee, Dae-Chul Jeong, Andrei Santimov, Regina Rupp, Igor Alekseev, Natalya Plutova, Ekaterina Moskvina, Marina Kruchina, Aleksandra Tarasenko, Natalya Sokolova, Ekaterina Saveleva, Ilia Bogdanov, Dmitrii Ivanov, Tatiana Kandrina, Olga Kopanevich, Anastasiia Grafskaia, Natalia Ignateva, Daria Pulukchu, Natalia Pavlova, Olga Kalashnikova, Tatiana Kornishina, Margarita Dubko, Vyacheslav Chasnyk, Mikhail Kostik, Shama Sowdagar, Janani Sankar, Venkateswari Ramesh, Iulia E. Szabo, Claudia Sirbe, Cristina Pamfil, Laura Damian, Simona Rednic, Maria Deac, Mihaela Sparchez, Ileana Filipescu, Mirela Parvu, Dumitrita Balint, Ancuta Nicoara

Publikováno v: Pediatric Rheumatology Online Journal, Vol 15, Iss S2, Pp 177-191 (2017)

Externí odkaz: https://doaj.org/article/b32aa041c31545d085e7cf12ed6ed062

Can Getting Enough Vitamin D during Pregnancy Reduce the Risk of Getting Asthma in Childhood?

Autor: Anna Papadopoulou, Evangelia Bountouvi, Konstantinos Douros

Publikováno v: Frontiers in Pediatrics, Vol 5 (2017)

The worldwide increase in asthma prevalence during the last decades and the re-emergence of vitamin D deficiency in many populations hinted toward an underlying association between these two conditions. Since asthma is presented with high incidence i

Externí odkaz: https://doaj.org/article/5f11f6ed385f43dea8cc5488409935f4

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients

Autor: George Papadopoulos, Anna Papadopoulou, Konstantina Kosma, Anastasios Papadimitriou, Vassiliki Papaevangelou, Christina Kanaka-Gantenbein, Evangelia Bountouvi, Sophia Kitsiou-Tzeli

Publikováno v: European journal of pediatrics. 181(10)

Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. It belongs to a wider group of pathologies, known as Rasopathies, due to the implication of genes encoding components of the Ras/MAPK signalli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586e46f7fd7d626a56fcbaf03cb30c32
https://pubmed.ncbi.nlm.nih.gov/35904599

The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders

Autor: Evangelia Bountouvi, Fotini-Eleni Karachaliou, Anna Papadopoulou

Publikováno v: Genes
Genes, Vol 12, Iss 734, p 734 (2021)

Calcium (Ca) and Phosphorus (P) hold a leading part in many skeletal and extra-skeletal biological processes. Their tight normal range in serum mirrors their critical role in human well-being. The signalling “voyage” starts at Calcium Sensing Rec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a604c2303119ca1df5ccead62f48136
https://pubmed.ncbi.nlm.nih.gov/34068220