Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis [PDF]
Endocrine Connections, 2018 Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism.
Lijuan Yuan +8 more
doaj +12 more sources
A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter. [PDF]
PLoS Genetics, 2015 Previously, we proposed a rare autosomal recessive inherited enteropathy characterized by persistent blood and protein loss from the small intestine as chronic nonspecific multiple ulcers of the small intestine (CNSU).
Junji Umeno +25 more
doaj +5 more sources
Prostaglandin Transporter (PGT/SLCO2A1) Protects the Lung from Bleomycin-Induced Fibrosis. [PDF]
PLoS ONE, 2015 Prostaglandin (PG) E2 exhibits an anti-fibrotic effect in the lung in response to inflammatory reactions and is a high-affinity substrate of PG transporter (SLCO2A1).
Takeo Nakanishi +8 more
doaj +5 more sources
PLoS ONE, 2020 Chronic enteropathy associated with SLCO2A1 gene (CEAS) is caused by loss-of-function mutations in SLCO2A1, which encodes a prostaglandin (PG) transporter.
Keisuke Jimbo +10 more
doaj +5 more sources
Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn’s Disease
Gut and Liver, 2019 Background/Aims We recently identified recessive mutations in the solute carrier organic anion transporter family member 2A1 gene (SLCO2A1) as causative variants of chronic nonspecific multiple ulcers of the small intestine (chronic enteropathy ...
Shunichi Yanai +13 more
doaj +5 more sources
HYPERTROPHIC OSTEOARTHROPATHY IN A PATIENT WITH HETEROZYGOUS MUTATION IN THE SLCO2A1 GENE: A CASE REPORT [PDF]
Central Asian Journal of Medical Hypotheses and Ethics, 2023 Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion carrier
Ilke Coskun Benlidayi +2 more
doaj +3 more sources
Bone Reports, 2023 Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound ...
Yukako Nakano +5 more
doaj +4 more sources
Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease [PDF]
BMC PediatricsBackground Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a unique type of inflammatory bowel disease. CEAS is monogenic disease and is thought to develop from childhood, but studies on pediatric CEAS are scarce.
Jin Gyu Lim +9 more
doaj +3 more sources
Label-free detection of prostaglandin transporter (SLCO2A1) function and inhibition: insights by wound healing and TRACT assays [PDF]
Frontiers in PharmacologyThe prostaglandin transporter (PGT, SLCO2A1) mediates transport of prostanoids (a.o. prostaglandin E2 (PGE2)) into cells and thereby promotes their degradation.
Ad Ijzerman +2 more
exaly +4 more sources
A novel role for OATP2A1/SLCO2A1 in a murine model of colon cancer [PDF]
Scientific Reports, 2017 Prostaglandin E2 (PGE2) is associated with proliferation and angiogenesis in colorectal tumours. The role of prostaglandin transporter OATP2A1/SLCO2A1 in colon cancer tumorogenesis is unknown.
Hiroaki Shimada +9 more
core +3 more sources