Results 31 to 40 of about 4,574,239 (286)

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study

Frontiers in Endocrinology, 2023
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal.
Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Nina Wieczorek-Cichecka, Małgorzata Piotrowicz, Tatiana Chilarska, Aleksander Jamsheer, Paweł Matusik, Małgorzata Wilk, Elżbieta Petriczko, Maria Giżewska, Iwona Stecewicz, Mieczysław Walczak, Magda Rybak-Krzyszkowska, Andrzej Lewiński, Agnieszka Gach   +20 more
doaj   +1 more source

The line between COVID-19 pandemic and rare bone diseases

, 2020
Rare diseases, Ostoporosis, Osteogenesis Imperfecta ...
Giovanni Adami, COVID-19 Helpline for Rare Bone Diseases Group, Sangiorgi L, Brizola E   +3 more
core   +1 more source

Cochlear implantation for severe mixed hearing loss caused by Treacher Collins syndrome: Case report [PDF]

Vojnosanitetski Pregled
Introduction. Treacher Collins syndrome (TCS) is a rare genetic condition characterized by typical head and neck malformations occurring in 1:50,000 newborns.
Ostojić-Zeljković Sanja, Nikolić Mina, Đoković Sanja   +2 more
doaj   +1 more source

The Impact of Maternal High-Fat Diet on Bone Microarchitecture in Offspring

Frontiers in Nutrition, 2021
The incidence of obesity in women of reproductive age has significantly increased over the past 100 years. There is a well-established connection between maternal obesity during pregnancy and an increased risk of developing non-communicable ...
Emma J. Buckels, Scott M. Bolam, Scott M. Bolam, Mei Lin Tay, Brya G. Matthews   +4 more
doaj   +1 more source

Clinical and Radiographic Diagnosis of Developmental Orthopedic Disease and Bone Lesions Determined in Thoroughbred Arabian Foals

Dicle Üniversitesi Veteriner Fakültesi Dergisi, 2020
The main objective of the present study was to determine the presence and prevalence of developmental orthopedic diseases and bone lesions, which causes huge economical looses in the purchasing of foals, in Thoroughbred Arabian foals in Tigem Anatolian Farm.
Özlem ŞENGÖZ ŞİRİN, Yusuf ŞEN, Başak ÖZGERMEN, Ali BUMİN, Zeki ALKAN   +4 more
openaire   +3 more sources

Effects of Neurological Disorders on Bone Health

Frontiers in Psychology, 2020
Neurological diseases, particularly in the context of aging, have serious impacts on quality of life and can negatively affect bone health. The brain-bone axis is critically important for skeletal metabolism, sensory innervation, and endocrine cross-talk
Ryan R. Kelly, Ryan R. Kelly, Sara J. Sidles, Sara J. Sidles, Amanda C. LaRue, Amanda C. LaRue   +5 more
doaj   +1 more source

Developmental principles informing human pluripotent stem cell differentiation to cartilage and bone

, 2022
Human pluripotent stem cells can differentiate into any cell type given appropriate signals and hence have been used to research early human development of many tissues and diseases.
Kimber, Susan J; id_orcid, Mancini, Fabrizio E, Humphreys, Paul A, Woods, Steven; id_orcid, Ogene, Leona, Ferreira, Miguel J S, Leona Ogene, Susan J. Kimber, Fabrizio E. Mancini, Miguel J.S. Ferreira, Paul A. Humphreys, Steven Woods   +11 more
core   +1 more source

Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases [PDF]

, 2022
Bone metabolism consists of a balance between bone formation and bone resorption, which is mediated by osteoblast and osteoclast activity, respectively.
Martini F., Iaquinta M. R., Rotondo J. C., Mazziotta C., Mazzoni E., Oton-Gonzalez L., Nocini R., Trevisiol L., D'agostino A., Tognon M.   +9 more
core   +2 more sources

Recapitulation of endochondral bone formation using human adult mesenchymal stem cells as a paradigm for developmental engineering [PDF]

, 2010
Mesenchymal stem/stromal cells (MSC) are typically used to generate bone tissue by a process resembling intramembranous ossification, i.e., by direct osteoblastic differentiation.
Schaeren, Stefan, Tonnarelli, Beatrice, Zeller, Rolf, Scotti, Celeste, Papadimitropoulos, Adam, Schauerte, Alexandra, Martin, Ivan, Scherberich, Arnaud, Lopez-Rios, Javier, Barbero, Andrea, Scotti C, Zeller R, Lopez-Rios J, Barbero A, Schauerte A, Tonnarelli B, Scherberich A, Martin I, Papadimitropoulos A, Schaeren S   +19 more
core   +1 more source

Activation of hedgehog signaling in mesenchymal stem cells induces cartilage and bone tumor formation via Wnt/β-Catenin

eLife, 2019
Indian Hedgehog (IHH) signaling, a key regulator of skeletal development, is highly activated in cartilage and bone tumors. Yet deletion of Ptch1, encoding an inhibitor of IHH receptor Smoothened (SMO), in chondrocyte or osteoblasts does not cause ...
Qi Deng, Ping Li, Manju Che, Jiajia Liu, Soma Biswas, Gang Ma, Lin He, Zhanying Wei, Zhenlin Zhang, Yingzi Yang, Huijuan Liu, Baojie Li   +11 more
doaj   +1 more source