Associated Papers
P17 Distinguishing familial generalized multiple glomangiomas from blue rubber bleb naevus syndrome: a case discussion.
Datsenko A et al.
The British Journal of Dermatology, 2025
P19 A rare case of PHOAR2-enteropathy syndrome (PHOAR2E; previously known as pachydermoperiostosis) with a causal variant in the SLCO2A1 gene.
Grechin C et al.
The British Journal of Dermatology, 2025
P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.
Poudel P et al.
The British Journal of Dermatology, 2025
Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.
Mohammad M et al.
Cureus, 2025
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
Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing.
Umair M et al.
Genes, 2023
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
Roles of Organic Anion Transporting Polypeptide 2A1 (OATP2A1/SLCO2A1) in Regulating the Pathophysiological Actions of Prostaglandins.
Nakanishi T et al.
The Aaps Journal, 2017
Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.
Shah K et al.
The British Journal of Dermatology, 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
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
Chow YP et al.
Orphanet Journal of Rare Diseases, 2017
28222800 (PubMed )
Supplement: 13023_2017_575_MOESM2_ESM.xlsx › Table_S1
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
The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.
Niizeki H et al.
Journal of Dermatological Science, 2014
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
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.
Seifert W et al.
Human Mutation, 2012
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