Results 71 to 80 of about 2,912,781 (218)

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans [PDF]

, 2017
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood.
Angela F. Brady, Annette Grüters, Annie M. Procter, Brigitte Strahm, Charlotte M. Niemeyer, Dale A. Moulding, Deborah Morrogh, Dieter Knöbl, Federica Buonocore, George K. Kokai, Glenn Anderson, Harald Stachelscheid, Ignacio Del Valle, Jenifer P. Suntharalingham, Jerry K.H. Wales, John C. Achermann, Le, Lemos de Matos, Li, Marcin W. Wlodarski, Martin Digweed, Miriam Erlacher, Mohammed Didi, Noushafarin Khajavi, Oliver Blankenstein, Paolo Ghirri, Paul Dimitri, Peter Kühnen, Shane A. McKee, Wei Chen, Wu   +30 more
core   +4 more sources

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects [PDF]

, 2010
Background α-Klotho (αKl) regulates mineral metabolism such as calcium ion (Ca2+) and inorganic phosphate (Pi) in circulation. Defects in mice result in clinical features resembling disorders found in human aging.
Aono, Yukiko, Econs, Michael J., Hasegawa, Hisashi, Hataya, Hiroshi, Ichikawa, Shoji, Imel, Erik A., Imura, Akihiro, Kitaoka, Taichi, Kurumatani, Norio, Murakami, Junko, Nabeshima, Yo-ichi, Nakatani, Kimihiko, Namba, Noriyuki, Okamoto, Nozomi, Ozono, Keiichi, Saito, Yoshihiko, Sakai, Tomoyuki, Shimada, Takashi, Urakawa, Itaru, Yamashita, Takeyoshi, Yamazaki, Yuji   +20 more
core   +1 more source

Tumoral calcinosis of bilateral hip joint in an adult female: A Case report [PDF]

Rwanda Medical Journal, 2019
The term Tumoral Calcinosis (TC) was coined by Inclan in 1943 but similar pathological entities were recognized in the late 1890s [1,2]. It is a rare condition consisting of accumulation of calcium in periarticular tissue outside of capsule.
F. Byiringiro Mugabe, B. Rugwizangoga
doaj  

Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates

Indian Journal of Endocrinology and Metabolism, 2014
Context: Tumoral calcinosis is a disorder of phosphate metabolism characterized by ectopic calcification around major joints. Surgery is the current treatment of choice, but a suboptimal choice in recurrent and multicentric lesions. Aims: To evaluate the
Karthik Balachandran, Sadishkumar Kamalanathan, Jaya Prakash Sahoo, Ashok Kumar Das, Dhanapathi Halanaik   +4 more
doaj   +1 more source

Clinical Impact of Multiparametric Contrast‐Enhanced Dual‐Energy Computed Tomography in Arthritis Imaging: A Prospective Single‐Center Study

Arthritis &Rheumatology, EarlyView.
Objective We aimed to evaluate the influence of contrast‐enhanced dual‐energy computed tomography (CE‐DECT) in detecting and differentiating rheumatic joint diseases of the hand. Methods In this prospective study, patients with suspected arthritis of the hand were investigated consecutively alongside the standard clinical procedure.
Sevtap Tugce Ulas, Jürgen Mews, Sarah Ohrndorf, Robert Biesen, Katharina Ziegeler, Edgar Wiebe, Fabian Proft, Udo Schneider, Denis Poddubnyy, Torsten Diekhoff   +9 more
wiley   +1 more source

The idiopathic localized tumoral calcinosis: the “chicken wire” radiographic pattern

Radiology Case Reports, 2017
Tumoral calcinosis is a rare and benign hereditary tumor-like periarticular calcium deposit. It is painless and it is found commonly around large joints such as hip, shoulder and elbow.
Marco Di Serafino, MD, Matilde Gioioso, MD, Rosa Severino, MD, Francesco Lisanti, MD, Rosario Rocca, MD, Paolo Sorbo, MD, Domenico Maroscia, MD   +6 more
doaj   +1 more source

Critical Evaluation of Methods for the Identification of Aneugens

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT The genotoxic potential of chemicals must be evaluated in regulatory safety assessment settings, including but not limited to, the development of new pharmaceuticals, industrial chemicals, food and cosmetic ingredients, and agrochemicals. Initial assessment of the chromosome‐damaging potential of chemicals is often conducted in mammalian cells
Xiaowen Sun, Stephen D. Dertinger, Azeddine Elhajouji, Daniel J. Roberts, Jan van Benthem, Maik Schuler, Shambhu Roy, Alexandra Taraboletti, Connie L. Chen   +8 more
wiley   +1 more source

Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis

The Turkish Journal of Pediatrics, 2019
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive disorder that is characterized by persistent hyperphosphatemia and extra-articular calcifications.
Jumana Albaramki, Haitham Dmour, Mohammad Shboul, Carine Bonnard, Byrappa Venkatesh, Rasha Odeh   +5 more
doaj   +1 more source

Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation [PDF]

, 2021
Mutations in FGF23, KL, and GALNT3 have been identified as the cause for the development of hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC typically present in childhood or adolescence with periarticular soft tissue deposits ...
Avitan-Hersh, Emily, Bratman Morag, Sharon, Freedman, J. Daniel, Nikomarov, David, Novak, Rostislav   +4 more
core   +2 more sources

PTH and FGF23 Exert Interdependent Effects on Renal Phosphate Handling: Evidence From Patients With Hypoparathyroidism and Hyperphosphatemic Familial Tumoral Calcinosis Treated With Synthetic Human PTH 1–34

Journal of Bone and Mineral Research, 2021
Parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) both influence blood phosphate levels by regulating urinary phosphate reabsorption. Clinical data suggest that adequate renal phosphate handling requires the presence of both FGF23 and PTH,
D. Ovejero, Iris R. Hartley, Luis Fernandez de Castro Diaz, Elizabeth H Theng, Xiaobai Li, R. Gafni, M. Collins   +6 more
semanticscholar   +1 more source