Results 71 to 80 of about 7,233,987 (192)

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

The Metabolic Bone Disease X-linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology

Life, 2021
The authors present a stereotypical case presentation of X-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab.
Jon Vincze, Brian W. Skinner, Katherine A. Tucker, Kory A. Conaway, Jonathan W. Lowery, Julia M. Hum   +5 more
doaj   +1 more source

Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic Spectrum

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
We report a case of a 22‐year‐old woman with predominantly cutaneous involvement in whom whole‐exome sequencing from both blood‐ and hair‐derived DNA samples identified somatic mosaicism for the rare HRAS p.Gly13Asp variant. This case expands the phenotypic spectrum of Costello syndrome and underscores the importance of multitissue genomic analysis ...
Jovan Lalosevic, Katarina Djordjevic, Mirjana Gajic‐Veljic, Sonja Pavlovic, Vladimir Gasic, Marina Andjelkovic, Milos Nikolic   +6 more
wiley   +1 more source

Reclassification of Hypophosphatemic Bone Disease as X-Linked Hypophosphatemia Following Genetic Testing in Adulthood. [PDF]

AACE Endocrinol Diabetes
Background: X-linked hypophosphatemia (XLH) is a disorder caused by a pathogenic variant in the phosphate-regulating endopeptidase homolog X-linked gene. This leads to increased fibroblast growth factor 23 synthesis, prompting renal phosphate wasting and
Kamel L, Hussain A, Elmewafy A, Ali DS, Khan AA.   +4 more
europepmc   +3 more sources

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 3, Page 559-569, September 2026.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source

IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]

, 2010
Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
core   +1 more source

Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients

Bone, 2019
X-linked hypophosphatemia (XLH) causes rickets, osteomalacia, skeletal deformities and growth impairment, due to elevated fibroblast growth factor 23 and hypophosphatemia. Conventional therapy requires high doses of phosphate salts combined with active vitamin D analogues. Risks of this regimen include nephrocalcinosis and secondary hyperparathyroidism
Sean DeLacey, Ziyue Liu, Andrea Broyles, Sarah A. El-Azab, Cristian F. Guandique, Benjamin C. James, Erik A. Imel   +6 more
openaire   +3 more sources

Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia

Frontiers in Endocrinology, 2022
ObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial ...
Tian Xu, Xiaohui Tao, Zhenlin Zhang, Hua Yue   +3 more
doaj   +1 more source

Hypophosphataemia following iron infusion: a narrative review of an increasingly recognised complication

Internal Medicine Journal, Volume 56, Issue 9, Page 1500-1509, September 2026.
Abstract Parenteral iron is widely prescribed by medical practitioners, with more than 600 000 outpatient prescriptions dispensed in 2025 through the Australian Pharmaceutical Benefits Scheme. While intravenous iron has transformed the management of iron deficiency, hypophosphataemia is now recognised as a common complication, with incidences reported ...
Brenda Ta, Stephanie Baddock, Jane Ludington, Angela Sheu   +3 more
wiley   +1 more source

Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia

Frontiers in Cell and Developmental Biology, 2021
X-linked hypophosphatemia (XLH) is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in an excess of circulating intact fibroblast growth factor-23 (iFGF-23) and a waste of renal phosphate.
Xiaoyun Lin, Shanshan Li, Zhenlin Zhang, Hua Yue   +3 more
doaj   +1 more source