Results 71 to 80 of about 2,648 (201)
Interação dos tecidos adiposo, muscular e ósseo no raquitismo hipofosfatêmico ligado ao X (XLH)
X-linked hypophosphatemic rickets (XLH; OMIM#307800), although a rare disease, is the most common form of genetic rickets. It results from an inactivating mutation in the PHEX gene that is associated with an increase in the circulating rate of FGF23 and,
Silva, Maisa Monseff Rodrigues da
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, 2022 Die X‑chromosomale Hypophosphatämie (X-linked hypophosphatemic rickets, XLH, OMIM # 307800) ist eine seltene Erkrankung des Knochenstoffwechsels, die mit einem ausgeprägten Phosphatverlust und oftmals schwerer Beeinträchtigung der Lebensqualität ...
Kocijan, Roland +2 more
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Angewandte Chemie, Volume 138, Issue 22, 25 May 2026.Neue biokompatible Oxytocin‐ und Vasopressin‐Photosonden mit modernsten Photocages. Diese Photosonden sind inaktiv und können mit spezifischen Lichtwellen entschützt werden, was eine Rezeptoraktivierung mit hoher zeitlicher und räumlicher Kontrolle ermöglicht. Abbildung erstellt mit https://BioRender.com ZUSAMMENFASSUNG Das Oxytocin/Vasopressin (OT/VP)
Konstantin Raabe +7 more
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X-linked hypophosphatemic rickets: from diagnosis to management [PDF]
Clinical and Experimental PediatricsX-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts ...
Eujin Park, Hee Gyung Kang
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Angewandte Chemie International Edition, Volume 65, Issue 22, 25 May 2026.Novel and biocompatible photoactivatable oxytocin and vasopressin probes, utilising state‐of‐the‐art photocages, remain inactive in the dark. Light exposure facilitates rapid spatiotemporal receptor activation and phospholipase C (PLC)‐mediated downstream signalling. Figure created in https://BioRender.com.
Konstantin Raabe +7 more
wiley +1 more source
, 2022 BackgroundGait deviations, lower limb pain and joint stiffness represent key symptoms in patients with X-linked hypophosphatemia (XLH, OMIM 307800), a rare disorder of mineral homeostasis.
Alexandra Stauffer (6811001) +7 more
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Advanced Science, Volume 13, Issue 16, 18 March 2026.This study constructs a proteomic atlas of esophageal squamous cell carcinoma (ESCC) progression using esophageal biopsy samples. It identifies moderate dysplasia as the critical turning stage and a seven‐protein panel for early detection. Functionally, GBP6 loss promotes ESCC progression via cell cycle and epithelial‐mesenchymal transition (EMT ...
Xumiao Li +12 more
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Journal of Periodontal Research, Volume 61, Issue 3, Page 309-322, March 2026.Effects of exogenous tissue‐nonspecific alkaline phosphatase (TNAP) were analyzed in the Hyp mouse model of X‐linked hypophosphatemia (XLH). Maxillary first molars were extracted from wild‐type (WT) and Hyp mice at 6 weeks, and collagen gel ± TNAP was placed in sockets. In one group of Hyp mice, submucosal injections of TNAP or saline were delivered at
Aonjittra Phanrungsuwan +3 more
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A new metabolic path in type 3 rickets
The FEBS Journal, Volume 293, Issue 3, Page 656-659, February 2026.Rickets, a bone disorder, was historically categorised into either nutritional (vitamin D deficiency) or genetic forms involving loss‐of‐function mutations in mineral metabolism. Recently, a new mechanism, type 3 rickets, was discovered to be caused by a gain‐of‐function mutation in CYP3A4 (Ile301Thr).
Toshiya Senda, Yoshihisa Hirota
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罕见病研究We studied the patients diagnosed with X-linked hypophosphatemicrickets(XLH) and treated with burosumab in Peking Union Medical College Hospital from January 2021 to December 2022.
LIU Qingyang +5 more
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