Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Melissa M Formosa"'
Autor:
Marichela Schembri, Melissa M. Formosa
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Osteoporosis is a multifactorial bone disease characterised by reduced bone mass and increased fracture risk. Family studies have made significant contribution in unravelling the genetics of osteoporosis. Yet, most of the underlying molecular and bio
Externí odkaz:
https://doaj.org/article/ff6f4ffc8b554c8c8ddc7d619d4c269a
Publikováno v:
Endocrinology, Diabetes & Metabolism, Vol 6, Iss 3, Pp n/a-n/a (2023)
Abstract Introduction Adipose tissue is the source of a broad array of signalling molecules (adipokines), which mediate interorgan communication and regulate metabolic homeostasis. Alterations in adipokine levels have been causally implicated in vari
Externí odkaz:
https://doaj.org/article/091761569d3244268441d487110fea8f
Autor:
Martina Rauner, Ines Foessl, Melissa M. Formosa, Erika Kague, Vid Prijatelj, Nerea Alonso Lopez, Bodhisattwa Banerjee, Dylan Bergen, Björn Busse, Ângelo Calado, Eleni Douni, Yankel Gabet, Natalia García Giralt, Daniel Grinberg, Nika M. Lovsin, Xavier Nogues Solan, Barbara Ostanek, Nathan J. Pavlos, Fernando Rivadeneira, Ivan Soldatovic, Jeroen van de Peppel, Bram van der Eerden, Wim van Hul, Susanna Balcells, Janja Marc, Sjur Reppe, Kent Søe, David Karasik
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
The availability of large human datasets for genome-wide association studies (GWAS) and the advancement of sequencing technologies have boosted the identification of genetic variants in complex and rare diseases in the skeletal field. Yet, interpreti
Externí odkaz:
https://doaj.org/article/ab5cda7f24e346b4a98b3e682c545407
Autor:
Fjorda Koromani, Nerea Alonso, Ines Alves, Maria Luisa Brandi, Ines Foessl, Melissa M. Formosa, Milana Frenkel Morgenstern, David Karasik, Mikhail Kolev, Outi Makitie, Evangelia Ntzani, Barbara Obermayer Pietsch, Claes Ohlsson, Martina Rauner, Kent Soe, Ivan Soldatovic, Anna Teti, Amina Valjevac, Fernando Rivadeneira
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Musculoskeletal research has been enriched in the past ten years with a great wealth of new discoveries arising from genome wide association studies (GWAS). In addition to the novel factors identified by GWAS, the advent of whole-genome and whole-exo
Externí odkaz:
https://doaj.org/article/41c739f745964891b6829dd00dea5d57
Autor:
Melissa M. Formosa, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kämpe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Högler, Wim Van Hul, Outi Mäkitie
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Genetic disorders of the skeleton encompass a diverse group of bone diseases differing in clinical characteristics, severity, incidence and molecular etiology. Of particular interest are the monogenic rare bone mass disorders, with the underlying gen
Externí odkaz:
https://doaj.org/article/c40099a1d4c14c6b8b27c337b7001312
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100934- (2021)
Externí odkaz:
https://doaj.org/article/9f33cebb9c7d4fbdb350ce0c685cc99d
Autor:
null Dylan J.M. Bergen, null Antonio Maurizi, null Melissa M. Formosa, null Georgina L.K. McDonald, null Ahmed El‐Gazzar, null Neelam Hassan, null Maria‐Luisa Brandi, null José A. Riancho, null Fernando Rivadeneira, null Evangelia Ntzani, null Emma L. Duncan, null Celia L. Gregson, null Douglas P. Kiel, null M. Carola Zillikens, null Luca Sangiorgi, null Wolfgang Högler, null Ivan Duran, null Outi Mäkitie, null Wim Van Hul, null Gretl Hendrickx
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca43691338f695884b6fd306e329d588
https://doi.org/10.1002/jbmr.4715/v2/response1
https://doi.org/10.1002/jbmr.4715/v2/response1
Autor:
Dylan J.M. Bergen, Antonio Maurizi, Melissa M. Formosa, Georgina L.K. McDonald, Ahmed El‐Gazzar, Neelam Hassan, Maria‐Luisa Brandi, José A. Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L. Duncan, Celia L. Gregson, Douglas P. Kiel, M. Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outi Mäkitie, Wim Van Hul, Gretl Hendrickx
Publikováno v:
Journal of bone and mineral research 26 September 2022
Journal of bone and mineral research
Bergen, D J M, Maurizi, A, Formosa, M M, Mcdonald, G, El-Gazzar, A, Hassan, N, Brandi, M-L, Riancho, J A, Rivadeneira, F, Ntzani, E, Duncan, E L, Gregson, C L, Kiel, D P, Zillikens, M C, Sangiorgi, L, Högler, W, Duran, I, Mäkitie, O, van Hul, W & Hendrickx, G 2022, ' High Bone Mass Disorders : New Insights from Connecting the Clinic and the Bench ', Journal of Bone and Mineral Research . https://doi.org/10.1002/jbmr.4715
Journal of bone and mineral research
Bergen, D J M, Maurizi, A, Formosa, M M, Mcdonald, G, El-Gazzar, A, Hassan, N, Brandi, M-L, Riancho, J A, Rivadeneira, F, Ntzani, E, Duncan, E L, Gregson, C L, Kiel, D P, Zillikens, M C, Sangiorgi, L, Högler, W, Duran, I, Mäkitie, O, van Hul, W & Hendrickx, G 2022, ' High Bone Mass Disorders : New Insights from Connecting the Clinic and the Bench ', Journal of Bone and Mineral Research . https://doi.org/10.1002/jbmr.4715
Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease-causing genes from the literature, and we provide an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f0fdd87325cab506c7c321f4bf0fbc
https://hdl.handle.net/10902/27878
https://hdl.handle.net/10902/27878
Autor:
Marichela Schembri, Donald Friggieri, Josanne Vassallo, Angela Xuereb-Anastasi, Melissa M. Formosa
Objective: Osteoporosis is a bone disease with a strong genetic background. The aim of the study was to identify the underlying genetic cause of early-onset osteoporosis in a Maltese pedigree.
peer-reviewed
peer-reviewed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d31ce5e338d5e54b9c494c1912d55e73
https://www.um.edu.mt/library/oar/handle/123456789/106103
https://www.um.edu.mt/library/oar/handle/123456789/106103
Autor:
Melissa M. Formosa, Douglas P. Kiel, Nicholas R Fuggle, Nathalie van der Velde, Archana Nagarajan, Katerina Trajanoska, Leo D. Westbury, Bruno H. Stricker, Kathleen T. Nevola, Cyrus Cooper, Fernando Rivadeneira, Alexandra Hinton, Katherine J. Motyl, Christine W. Lary, Angela Xuereb-Anastasi, Elaine M. Dennison
Publikováno v:
Journal of the Endocrine Society
Journal of the Endocrine Society, 5(8):bvab092. Endocrine Society
Journal of the Endocrine Society, 5(8):bvab092. Endocrine Society
CONTEXT: Recent studies have shown that β-blocker (BB) users have a decreased risk of fracture and higher bone mineral density (BMD) compared to nonusers, likely due to the suppression of adrenergic signaling in osteoblasts, leading to increased BMD