Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review
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Title
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2023-11-02
DOI
10.1002/ajmg.a.63446
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Note: Only part of the references are listed.- Cryptogenic multifocal ulcerating stenosing enteritis and other under-recognised small bowel inflammatory enteropathies
- (2022) Mark E. McAlindon CURRENT OPINION IN GASTROENTEROLOGY
- Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy
- (2021) Yang Xu et al. JOURNAL OF BONE AND MINERAL RESEARCH
- SLCO2A1 gene is the causal gene for both primary hypertrophic osteoarthropathy and hereditary chronic enteropathy
- (2021) Junji Umeno et al. Journal of Orthopaedic Translation
- Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature
- (2019) Qiang Wang et al. Orphanet Journal of Rare Diseases
- Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn’s disease
- (2018) Junji Umeno et al. JOURNAL OF GASTROENTEROLOGY
- Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn's Disease
- (2018) Shunichi Yanai et al. Gut and Liver
- Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention
- (2017) Shan-Shan Li et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Chronic Enteropathy Associated With SLCO2A1 Gene [CEAS]—Characterisation of an Enteric Disorder to be Considered in the Differential Diagnosis of Crohn’s Disease
- (2017) Naoki Hosoe et al. Journal of Crohns & Colitis
- Successful treatment of pachydermoperiostosis with etoricoxib in a patient with a homozygous splice-site mutation in the SLCO2A1 gene
- (2016) Z.-T. Li et al. BRITISH JOURNAL OF DERMATOLOGY
- Adverse Effects of Nonsteroidal Antiinflammatory Drugs: An Update of Gastrointestinal, Cardiovascular and Renal Complications
- (2016) Sam Harirforoosh et al. JOURNAL OF PHARMACY AND PHARMACEUTICAL SCIENCES
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter
- (2015) Junji Umeno et al. PLoS Genetics
- Protter: interactive protein feature visualization and integration with experimental proteomic data
- (2013) Ulrich Omasits et al. BIOINFORMATICS
- Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy
- (2011) Zhenlin Zhang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular cloning and characterization of the porcine prostaglandin transporter (SLCO2A1): evaluation of its role in F4 mediated neonatal diarrhoea
- (2009) Mario Van Poucke et al. BMC GENETICS
- Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
- (2008) Sandeep Uppal et al. NATURE GENETICS
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