Results 61 to 70 of about 1,479 (176)

A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy

Orphanet Journal of Rare Diseases
Background Chronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1, which encodes the prostaglandin transporter (PGT). CEAS follows an autosomal recessive inheritance pattern.
Yimin Dai, Miao He, Hui Xu, Bei Tan, Weixun Zhou, Wei Liu, Qiang Wang, Jingyi Huang, Qing Shang, Yaping Liu, Yue Li   +10 more
doaj   +1 more source

Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature

Orphanet Journal of Rare Diseases, 2019
Background Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI complication in PHO mimics other auto-
Qiang Wang, Ying-he Li, Guo-le Lin, Yue Li, Wei-xun Zhou, Jia-ming Qian, Wei-bo Xia, Dong Wu   +7 more
doaj   +1 more source

Age‐related variations in prostaglandin E‐major urinary metabolite values in Japanese children

Pediatrics International, Volume 68, Issue 1, January/December 2026.
Abstract Background Prostaglandin E‐major urinary metabolite (PGE‐MUM) is an emerging noninvasive biomarker used to evaluate clinical and endoscopic activity in patients with inflammatory bowel disease. Previous studies have shown that PGE‐MUM values correlate with colonic inflammation in pediatric ulcerative colitis; however, reference values for ...
Takatoshi Maeyama, Ayaka Takashiba, Ayaha Hata, Keinosuke Hizuka, Ryutaro Saura, Yuri Etani, Shin‐ichiro Hagiwara   +6 more
wiley   +1 more source

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis. [PDF]

, 2017
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed.
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core   +1 more source

Integration of Digital Denture Technology in the Prosthodontic Management of Pediatric Osteopetrosis: A Case Report

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
Osteopetrosis is a rare hereditary disorder characterized by impaired osteoclastic bone resorption, resulting in generalized skeletal sclerosis, increased bone fragility, and a heightened risk of complications such as osteomyelitis. Prosthodontic rehabilitation in pediatric patients is particularly challenging due to ongoing craniofacial growth ...
Athina Niakou, Savvas Kamalakidis, Athanasios Stratos, Konstantinos Arapostathis, Eleni Kotsiomiti, Hannah Wesley   +5 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Mutations in theSLCO2A1Gene and Primary Hypertrophic Osteoarthropathy: A Clinical and Biochemical Characterization [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2013
We previously demonstrated that deficiency of the prostaglandin transporter (SLCO2A1) is a cause of primary hypertrophic osteoarthropathy (PHO). However, its clinical and metabolic characteristics have not been well defined.The objective of the study was to expand this mutational spectrum to better delineate the SLCO2A1 deficiency phenotype and ...
Zeng, Zhang, Jin-Wei, He, Wen-Zhen, Fu, Chang-Qing, Zhang, Zhen-Lin, Zhang   +4 more
openaire   +2 more sources

Primary hypertrophic osteoarthropathy: genetics, clinical features and management

Frontiers in Endocrinology, 2023
Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 ...
Qi Lu, Yang Xu, Zeng Zhang, Shanshan Li, Zhenlin Zhang   +4 more
doaj   +1 more source

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings [PDF]

, 2019
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations.
Durmaz, Ceren D., Seifert, Wenke, Horn, Denise, Torgutalp, Murat, Karabulut, Halil G., Akkaya, Zehra, Turgay, Murat   +6 more
core   +1 more source

Primary Hypertrophic Osteoarthropathy (Pachydermoperiostosis): Two Brothers Misdiagnosed As Inflammatory Arthritis

Trends in Urology &Men's Health, Volume 16, Issue 4, August 2025.
ABSTRACT Primary hypertrophic osteoarthropathy (Pachydermoperiostosis) is a rare, inherited genetic disorder of the skeleton and the skin, characterised by clubbing of the fingers, thickening of the skin especially of the face and forehead (pachydermia) and periostosis. Patients often present with pain and swelling of the knees and ankles.
Ahmed AbdulBari, Farooq Fouad, Sarah Mushtaq, Ali Jawad   +3 more
wiley   +1 more source