Associated Papers
Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.
Mohammad M et al.
Cureus, 2025
Structure and transport mechanism of the human prostaglandin transporter SLCO2A1.
Xia Z et al.
Nature Communications, 2025
Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for SLCO2A1 variants.
Arcanjo AM et al.
Jbmr Plus, 2025
Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene.
Shang Q et al.
Orphanet Journal of Rare Diseases, 2024
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
Zou W et al.
Journal of Assisted Reproduction and Genetics, 2024
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.
Kimball TN et al.
American Journal of Medical Genetics. Part A, 2024
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.
Chen PS et al.
Journal of Neuromuscular Diseases, 2023
Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy.
Xu Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action.
Nakanishi T et al.
Pharmacology & Therapeutics, 2021
[Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations].
Jin P et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2018
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.
Hou Y et al.
Bone, 2018
Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis.
Huang H et al.
Scientific Reports, 2017
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.
Guo T et al.
Molecular Medicine Reports, 2017
Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.
Lee S et al.
Journal of Korean Medical Science, 2016
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization.
Zhang Z et al.
The Journal of Clinical Endocrinology and Metabolism, 2013