Results 61 to 70 of about 3,965 (174)

X-linked familial hypophosphatemia

Arab Journal of Rheumatology
Abstract: Osteomalacia is a diffuse bone disorder characterized by increased bone fragility, and it represents in adults the equivalent of rickets seen in children, sharing the same causes. This condition mainly results from Vitamin D deficiency, but in some cases, it may be due to renal phosphate wasting, which can be hereditary, acquired ...
Boutaina Zerouali, Kawtar Nassar, Soukaina Zaher, Ahlam Ajerouassi, Wafae Rachidi, Saadia Janani   +5 more
openaire   +1 more source

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X‐Linked Hypophosphatemic Rickets

Advanced Science, Volume 13, Issue 4, 19 January 2026.
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Huixiao Wu, Wanyi Zhao, Xinyu Chen, Yanzhou Wang, Shuoshuo Wei, Bo Xiang, Yingzhou Shi, Zongyue Li, Yangyang Yao, Jin Xie, Renyuan Qiu, Meng Shu, Shuo Xu, Ping Chen, Zhiying Chen, Yingjie Wu, Weibo Xia, Ling Gao, Yongfeng Song, Jiajun Zhao, Chao Xu   +20 more
wiley   +1 more source

Burosumab in Unidentifiable Tumor‐Induced Osteomalacia

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Tumor‐induced osteomalacia (TIO) can be challenging due to underlying tumors being either unresectable or unidentifiable. Burosumab, an anti‐FGF23 monoclonal antibody, has been proven to be effective in treating TIO but is currently not subsidized for this indication in Australia.
Yi Shan Der, Santosh Chaubey, Anna Mclean, Yasmin Trinh, Shelley Pember, Ashim Sinha   +5 more
wiley   +1 more source

Phase II clinical trial of nirogacestat in patients with relapsed ovarian granulosa cell tumours

Clinical and Translational Medicine, Volume 16, Issue 1, January 2026.
Evidence suggests NOTCH activation is among the survival and proliferation pathways interacting with FOXL2 c.402C > G (p.Cys134Trp) mutation in granulosa cell tumours (GCT). This Phase II clinical trial of nirogacestat in GCT achieved its enrolment target in < 1 year and primary analysis within 2 years.
Rachel N. Grisham, Elizabeth Hopp, Kathryn Pennington, Robert Holloway, Robert M. Wenham, Pawel Blecharz, Lauren Dockery, Koji Matsuo, Ritu Salani, Mariusz Bidzinski, Patricia Braly, Paul Celano, Thomas Reid, Shelly Seward, Jocelyn Lewis, Mark Johnson, Robert DuBose, Sarah Ahn, Shinta Cheng, Carmelita Alvero, Panagiotis A. Konstantinopoulos   +20 more
wiley   +1 more source

From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]

, 2015
Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core   +2 more sources

Three Malagasy Cases of Severe Bone Complications Revealing Primary Hyperparathyroidism

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Primary hyperparathyroidism (PHPT) is a metabolic disorder characterized by hypercalcemia with elevated or unsuppressed parathyroid hormone (PTH). It is rare in children but common in adults, particularly in women around the age of 50. In 85% of cases, PHPT is asymptomatic and is diagnosed following hypercalcemia and elevated PTH levels during routine ...
Zolalaina Andrianadison, Lalao Nomenjanahary Rakotonirina, Oliva Henintsoa Rakotonirainy, Mamonjisoa Olivier Andrianiaina, Mbola Narison Lala Rakotomahefa, Fahafahantsoa Rapelanoro Rabenja, Osamu Isozaki   +6 more
wiley   +1 more source

Thyroxine-binding globulin: investigation of microheterogeneity [PDF]

, 1981
Preparations of T4-binding globulin (TBG) from human serum was performed using only two affinity chromatography steps. Purity of the protein was demonstrated by a single band in overloaded disc and sodium dodecyl sulfate electrophoresis, equimolar ...
Gärtner, Roland, Henze, R., Horn, K., Pickardt, C. R., Scriba, Peter Christian   +4 more
core   +1 more source

Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Background Hypokalemic periodic paralysis (HypoPP) is a rare skeletal muscle channelopathy, most often caused by mutations in CACNA1S or SCN4A. Most pathogenic CACNA1S mutations affect arginine residues in S4 voltage‐sensor domains, but other variants remain poorly understood.
Mark Abi Nader, Balraj Mittal
wiley   +1 more source

High Phosphate Load Induces De Novo Formation of Tertiary Lymphoid Structures in the Kidney

The FASEB Journal, Volume 39, Issue 24, 31 December 2025.
Graphical illustration of renal alterations under varying phosphate load: High phosphate load induces fibrosis, tubular injury, impaired renal function, and de novo formation of perivascular tertiary lymphoid structures. Under normal phosphate load, fibrosis, functional decline, and tubular injury are absent, while T‐ and B‐ cell aggregates are present
Nina Weingärtner, Beatrice Richter, Franziska Walles, Tamar Kapanadze, Jessica Schmitz, Jan H. Bräsen, Florian P. Limbourg, Dieter Haffner, Maren Leifheit‐Nestler   +8 more
wiley   +1 more source

Analysis of Thisbe and Pyramus functional domains reveals evidence for cleavage of Drosophila FGFs [PDF]

, 2010
Background: As important regulators of developmental and adult processes in metazoans, Fibroblast Growth Factor (FGF) proteins are potent signaling molecules whose activities must be tightly regulated.
Stathopoulos, Angelike, Tulin, Sarah
core   +4 more sources