Associated Papers
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2026
41673532 (PubMed )
Supplement: PCMR-39-0-s001.xlsx › TableS3
Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.
Mohammad M et al.
Cureus, 2025
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D et al.
Calcified Tissue International, 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
Functional analysis of mutant SLCO2A1 transporters found in patients with chronic enteropathy associated with SLCO2A1.
Seki S et al.
Journal of Gastroenterology and Hepatology, 2022
Four Variants of SLCO2A1 Identified in Three Chinese Patients with Chronic Enteropathy Associated with the SLCO2A1 Gene.
Huang H et al.
Digestive Diseases and Sciences, 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
Successful azathioprine treatment in an adolescent with chronic enteropathy associated with SLCO2A1 gene: A case report.
Eda K et al.
Medicine, 2018
Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.
Umeno J et al.
Journal of Gastroenterology, 2018
Chronic Enteropathy Associated With SLCO2A1 Gene [CEAS]-Characterisation of an Enteric Disorder to be Considered in the Differential Diagnosis of Crohn's Disease.
Hosoe N et al.
Journal of Crohn's & Colitis, 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 prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.
Seifert W et al.
Human Mutation, 2012
Chronic Enteropathy Associated with SLCO2A1 Gene.
Umeno J et al.
Inflammatory Intestinal Diseases, 0
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