Results 151 to 160 of about 1,479 (176)

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

A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy

Gene, 2013
Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease that closely mimics hypertrophic osteoarthropathy secondary to pulmonary or other pathology. The study of PHO provides an opportunity to understand both the pathogenesis of hypertrophic osteoarthropathy and the functions of the underlying genes.
Zeng, Zhang, Jin-Wei, He, Wen-Zhen, Fu, Chang-Qing, Zhang, Zhen-Lin, Zhang   +4 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

A Rare Case of Primary Hypertrophic Osteoarthropathy Secondary to SLCO2A1 Gene Mutation

Journal of the Association of Physicians of India
Hypertrophic osteoarthropathy (HOA), also known as pachydermoperiostosis is an unusual cause of digital clubbing. It is a rare osteo-arthro-dermopathic syndrome which is associated with clubbing of fingers, thickening of skin in the face and scalp, seborrhea, and subperiosteal new bone genesis.
Nagaraja, Kamath, N, Vinay, G N, Aravind
openaire   +2 more sources

Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy

Gene, 2014
Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease characterized by digital clubbing, periostosis and pachydermia. Mutations in the 15-hydroxy-prostaglandin dehydrogenase (HPGD) gene and solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene have been shown to be associated with PHO. Here, we described clinical
Zeng, Zhang, Jin-Wei, He, Wen-Zhen, Fu, Chang-Qing, Zhang, Zhen-Lin, Zhang   +4 more
openaire   +2 more sources

Multiple small intestinal ulcers with SLCO2A1 mutation in a Chinese patient

Digestive and Liver Disease, 2023
Chang, Zheng, Qian, Zhong, Yiyang, Zhang, Chunyan, Peng   +3 more
openaire   +2 more sources

A case of complete form of pachydermoperiostosis with SLCO2A1 mutations

European Journal of Dermatology, 2021
Cui Xu, Yue Tao
openaire   +1 more source

[Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2018
Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied. All exons of the SLCO2A1 and HPGD gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. To assess the damaging effects of missense mutations in silico, the online database, PolyPhen-2 and SIFT were ...
Ping, Jin, Qin, Zhang, Honghui, He, Weihao, Zhu, Xiaodan, Long, Zhaohui, Mo   +5 more
openaire   +1 more source

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

Journal of Gastroenterology and Hepatology (Australia), 2022
Tadakazu Hisamatsu
exaly