Results 11 to 20 of about 11,488 (177)

Molecular effect of an OPTN common variant associated to Paget's disease of bone [PDF]

, 2018
Paget's disease of bone (PDB) is a chronic bone disorder and although genetic factors appear to play an important role in its pathogenesis, to date PDB causing mutations were identified only in the Sequestosome 1 (SQSTM1) gene at the PDB3 locus.
Brown, Jacques P., Cancela, M. Leonor, Conceição, Natércia, Gagnon, Edith, Michou, Laetitia, Silva, Iris   +5 more
core   +6 more sources

Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone [PDF]

, 2012
We performed a genetic association study of rare variants and single nucleotide polymorphisms (SNPs) of UCMA/GRP and OPTN genes, in French-Canadian patients with Paget's disease of bone (PDB) and in healthy controls from the same population.
Albagha, Albagha, Avilion, Basu-Roy, Cancela, Chen, Chung, Desmet, Edith Gagnon, Ethel S. Siris, Fahmi, Gabriel Miltenberger-Miltenyi, Goode, Hocking, Jacques P. Brown, Jean Morissette, Laurin, Laurin, Layfield, Laëtitia Michou, Le Jeune, Lefebvre, Lucas, Luu-The, M. Leonor Cancela, Maruyama, Michou, Morissette, Natércia Conceição, Pankiv, Rath, Rezaie, Rousiere, Shankar, Singh, Staden, Surmann-Schmitt, Tagariello, Tong, van Staa, Viegas, Viegas   +41 more
core   +1 more source

Optineurin functions for optimal immunity [PDF]

, 2018
Optineurin (OPTN) was identified 20 years ago in a yeast-two-hybrid screen with a viral protein known to inhibit the cytolytic effects of tumor necrosis factor.
Slowicka, Karolina, van Loo, Geert
core   +1 more source

Paget’s disease of bone: A rare case in a patient under 40 years of age

Human Pathology Reports, 2021
Paget’s disease of bone is a rare diagnosis in patients under 40 years of age. We report a case diagnosed in a 35-year-old patient with suspected symptomatic presentation at the age of 30 years during pregnancy.
Erina Melva McKinney, Anders R. Meyer, Elizabeth J. Friedman, Brian MacNeille Everist, Candice E. Rose   +4 more
doaj   +1 more source

Acquired Chiari Type 1 Malformation Secondary to Paget’s Disease of the Bone: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2021
Chiari type 1 malformations are characterised by caudal descent of cerebellar tonsil into foramen magnum. Usually it is congenital. Paget’s disease causing acquired chiari type 1 malformation is rare with only five reported cases in the literature.
Srestha Khan, Senthil Kumar Aiyappan, Abinesh Govindarajan, Vinayagam Shanmugam   +3 more
doaj   +1 more source

A case of mandible Paget’s disease of the bone treated with intravenous neridronate

Reumatismo, 2016
Paget’s disease of bone (PDB) is a focal disorder of osteoclasts, leading to chaotic bone remodelling, and it is characterized by the presence of focal areas of excessive bone formation alongside with areas of focal bone resorption.
A. Fassio, L. Idolazzi, M. Rossini, O. Viapiana, D. Gatti   +4 more
doaj   +1 more source

Paget's disease of bone in the patient presented with a bowed leg

Clinical Case Reports, 2023
Key Clinical Message In dealing with bowed limbs along with increased alkaline phosphatase (ALP), even if the typical changes to the face are not very noticeable at first glance, Paget's disease of the bone (PDB) should be suspected, and the necessary ...
Mehrzad Hajialiloo, Sepideh Tahsini Tekantapeh   +1 more
doaj   +1 more source

Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]

, 2015
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen, Crockett, Cameron D, Gonzalez, Michael A, Grider, Tiffany, Jerath, Nivedita U, Moore, Steven A, Shy, Michael E, Swenson, Andrea, Weihl, Conrad C, Zuchner, Stephan   +9 more
core   +4 more sources

Medication-related osteonecrosis of the jaw: clinical and practical guidelines [PDF]

, 2016
Medication-related osteonecrosis of the jaw (MRONJ) is a severe adverse drug reaction, consisting of progressive bone destruction in the maxillofacial region of patients.
Allen, Bamias, Bedogni, Berenson, Brauner, Carlson, Coleman, Damm, Delmas, Delmas, Delmas, Dimopoulos, Fedele, Fizazi, Grbic, Guarneri, Hellstein, Hortobagyi, Kos, Lo, Marx, Mauri, Nussbaum, Papapoulos, Pompa, Qi, Qi, Reid, Ripamonti, Romeo, Rugani, Ruggiero, Ruggiero, Ruggiero, Saad, Saad, Scagliotti, Scoletta, Seth, Tenore, Vahtsevanos, Vandone, Yamazaki   +42 more
core   +2 more sources

Five-year follow-up of Japanese patients with Paget's disease of the bone after treatment with low-dose oral alendronate: a case series

Journal of Medical Case Reports, 2010
Introduction Paget's disease of the bone is characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton.
Wada Takuro, Takada Junichi, Iba Kousuke, Yamashita Toshihiko   +3 more
doaj   +1 more source