Results 161 to 170 of about 2,152 (193)

Functional analysis of mutant SLCO2A1 transporters found in patients with chronic enteropathy associated with SLCO2A1

Journal of Gastroenterology and Hepatology, 2022
AbstractBackground and AimChronic enteropathy associated with the solute carrier organic anion transporter family member 2A1 (SLCO2A1), or CEAS, causes anemia and hypoalbuminemia in young people. Dysfunction of the SLCO2A1 transporter protein is thought to involve genetic mutation, but mutant proteins have not been functionally characterized.
Satowa Seki, Gen Tanaka, Toru Kimura, Mari Hayashida, Jun Miyoshi, Minoru Matsuura, Hiroyuki Sakurai, Tadakazu Hisamatsu   +7 more
openaire   +2 more sources

N-glycosylation modifies prostaglandin E2 uptake by reducing cell surface expression of SLCO2A1

Prostaglandins and Other Lipid Mediators, 2023
SLCO2A1 functions as a prostaglandin (PG) influx transporter to facilitate intracellular oxidation of PGs and its defect causes dysregulation of PG signaling and metabolism. This study aimed to clarify effects of N-glycosylation on functional SLCO2A1 expression. Putative N-glycosylation site(s) (N134, N478, and/or N491) of human SLCO2A1 were mutated to
Takeo Nakanishi, Yoshinobu Nakamura
exaly   +3 more sources

Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy

European Journal of Medical Genetics, 2023
Primary hypertrophic osteoarthropathy (PHO), or pachydermoperiostosis, is characterized by a clinical association including digital clubbing, periostosis and pachydermia. SLCO2A1 and HPGD genes are both responsible for PHO. The pathology is classically defined as an autosomal recessive disorder with clinical variability ranging from a mild to more ...
Adrien, Bloch, Guillaume, Couture, Bertrand, Isidor, Manon, Ricquebourg, Emmanuelle, Bourrat, Dan, Lipsker, Bruno, Taillan, Alice, Combier, Christine, Chiaverini, Frédérique, Moufle, Bruno, Delobel, Pascal, Richette, Corinne, Collet   +12 more
openaire   +2 more sources

Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy

Journal of Bone and Mineral Research, 2020
ABSTRACT Primary hypertrophic osteoarthropathy (PHO) is a rare disease inherited as a recessive or irregular dominant trait and characterized by digital clubbing, pachydermia, and periostosis. Biallelic mutations in HPGD and SLCO2A1, disturbing prostaglandin E2 (PGE2) catabolism and leading to increased circulating PGE2 level, cause ...
Yang Xu, Zeng Zhang, Hua Yue, Shanshan Li, Zhenlin Zhang   +4 more
openaire   +2 more sources

P868 Clinical features of chronic enteropathy associated with SLCO2A1 gene

Journal of Crohn's and Colitis, 2023
Abstract Background Chronic enteropathy associated with the SLCO2A1 gene (CEAS) is a hereditary disease caused by mutations of the SLCO2A1 gene which encodes a prostaglandin transporter. This disease is rare and intractable characterized by persistent blood and protein loss. There are few reports from
J Umeno, Y Fuyuno, T Torisu, Y Matsuno, M Esaki, S Yanai, N Ohmiya, T Hisamatsu, K Watanabe, N Hosoe, H Ogata, F Hirai, T Hisabe, T Matsui, T Kitazono, T Matsumoto   +15 more
openaire   +1 more source

Impact of FDA-Approved Drugs on the Prostaglandin Transporter OATP2A1/SLCO2A1

Journal of Pharmaceutical Sciences, 2017
To understand interaction of drugs with the prostaglandin transporter OATP2A1/SLCO2A1 that regulates disposition of prostaglandins, we explored the impact of 636 drugs in an FDA-approved drug library on 6-carboxyfluorescein (6-CF) uptake by OATP2A1-expressing HEK293 cells (HEK/2A1).
Shunsuke, Kamo, Takeo, Nakanishi, Rika, Aotani, Yoshinobu, Nakamura, Tomoka, Gose, Ikumi, Tamai   +5 more
openaire   +2 more sources

Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1

Modern Rheumatology Case Reports, 2021
Male, 41 years old (yo) had been complaining of severe arthralgia. Past History indicated obstruction of intestinal tract at 12 yo and gastric ulcer at 13 yo. He had been suffered from polyarthralgia especially at PIP and MP joints of both hands from 38 yo.
Tatsuo, Ishizuka, Kei, Fujioka, Ichiro, Mori, Tomofumi, Takeda, Masayuki, Fuwa, Takahide, Ikeda, Koichiro, Taguchi, Hiroyuki, Morita, Kazuhiko, Nakabayashi, Hironori, Niizeki   +9 more
openaire   +2 more sources

Chronic enteropathy associated with SLCO2A1 gene: A case report and literature review

Clinics and Research in Hepatology and Gastroenterology, 2019
A case of chronic enteropathy associated with SLCO2A1 gene (CEAS) is presented. The female patient was readmitted four times during a three-year follow-up period for intractable dropsy and anemia. Multiple ulcers of small bowel wall were revealed by endoscopic examination. Computed tomography enterography (CTE) and magnetic resonance enterography (MRE)
Peng, Hu, Huiqin, He, Ning, Dai, Shizheng, Zhang, Liping, Deng   +4 more
openaire   +2 more sources

Pachydermopériostose avec mutation de SLCO2A1 associée à une fibrose médullaire

Annales de Dermatologie et de Vénéréologie, 2019
Introduction La pachydermoperiostose (PDP), genodermatose autosomique recessive, est exceptionnelle. La mutation de SCLO2A1 associerait un phenotype plus severe et des anomalies hematologiques plus frequentes. Observation Un homme algerien de 40 ans, avec une notion de consanguinite chez les parents, etait adresse par son neurologue pour une cutis
M. Merlant, E. Bourrat, G. Hickmann, M. Bagot, C. Lepelletier, J. Soret   +5 more
openaire   +1 more source

Modulation of prostaglandin transport activity of SLCO2A1 by annexin A2 and S100A10

American Journal of Physiology-Cell Physiology
A previous study indicated that the ANXA2/S100A10 complex represents the regulatory component of SLCO2A1-mediated Maxi-Cl channel activity. The present study showed that apparent PGE2 uptake by C127 cells was osmoinsensitive and uncompetitively inhibited by loss of ANXA2 expression, demonstrating that ANXA2 is a regulatory factor of SLCO2A1-mediated ...
Yoshinobu Nakamura, Masa-aki Ito, Yukino Hoshino, Isao Matsuoka, Toshiaki Okada, Yasunobu Okada, Takeo Nakanishi   +6 more
openaire   +2 more sources