Searchable abstracts of presentations at key conferences on calcified tissues

ba0004is17 | (1) (1) | ICCBH2015

Molecular and cellular bases of high bone mass

Villa Anna

Bone remodelling is maintained by a balanced activity of osteoclasts and osteoblasts. Alterations in this cross-talk result in bone pathological conditions. High bone mass defines a complex and heterogenous genetic condition characterized by increased bone density. In particular, osteopetrosis is a genetic condition of high bone mass caused by impairment in osteoclast generation or function. Molecular analysis of human osteopetrosis has allowed the identification of novel gene...

ba0004is17biog | (1) (1) | ICCBH2015

Molecular and cellular bases of high bone mass

Villa Anna

Biographical DetailsAnna Villa is Chief of the Human Genome Unit at UOS/IRGB and is also responsible for a Research Unit at Telethon Institute for Gene Therapy (TIGET). Her group has also extensively contributed towards the molecular dissection of genetic bone disorders, focusing on autosomal recessive osteopetrosis (ARO). In particular she has identified TCIRG1 as the gene responsible fo...

ba0007is9 | (1) | ICCBH2019

Osteoclast disorders

Sobacchi Cristina , Palagano Eleonora , Menale Ciro , Villa Anna

Osteoclasts are giant multinucleated skeletal cells of hematopoietic origin primarily responsible for bone resorption. Their functional impairment disturbs bone homeostasis and, to a variable extent, a number of other processes, such as growth, hematopoiesis and immune function. The accumulation of bone tissue owing to failure in bone resorption results in increased bone density, which is the hallmark of osteopetrosis (OP), a heterogeneous group of monogenic disorders with aut...

ba0003cc1 | (1) | ECTS2014

Molecular diagnosis of osteopetrotic patients with atypical presentations using traditional approaches and exome sequencing

Palagano Eleonora , Pangrazio Alessandra , Strina Dario , Puddu Alessandro , Oppo Manuela , Valentini Maria , Vezzoni Paolo , Villa Anna , Sobacchi Cristina

Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...

ba0005p451 | Other diseases of bone and mineral metabolism | ECTS2016

Rankl−/− mesenchymal stromal cells have an unexpected osteogenic differentiation defect which is improved by a RANKL-expressing lentiviral vector

Menale Ciro , Schena Francesca , Diomede Lorenzo , Sergi Lucia Sergi , Susani Lucia , Palagano Eleonora , Traggiai Elisabetta , Sobacchi Cristina , Villa Anna

Osteoclast-poor RANKL-dependent autosomal recessive osteopetrosis (ARO) is a rare bone disease characterized by an increase in bone density due to the failure of bone resorption by impaired osteoclast formation. Haematopoietic stem cell transplantation is not an effective therapy for this ARO form, since in bone RANKL is produced mainly by cells of mesenchymal origin. Whether also these cells, besides the osteoclast, are in some way affected by RANKL deficiency is not known. T...

ba0005p244 | Genetics and Epigenetics | ECTS2016

NBAS is the gene mutated in two patients affected by Acrofrontofacionasal Dysostosis type 1

Palagano Eleonora , Zuccarini Giulia , Mantero Stefano , Conte Daniele , Angius Andrea , Uva Paolo , Prontera Paolo , Vezzoni Paolo , Villa Anna , Merlo Giorgio , Sobacchi Cristina

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...