Results 31 to 40 of about 2,152 (193)

Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis.

Internal medicine (Tokyo, Japan), 2020
A 49-year-old man complained of chronic palpitation and shortness of breath, which had recently become exacerbated. A blood examination indicated severe refractory anemia and hypoproteinemia. Physical examinations revealed anemia, a systolic murmur, and spoon nails. Multiple nonspecific ileal ulcers were observed. A pathological examination indicated a
Tsuzuki, Yoshikazu, Aoyagi, Ryutaro, Miyaguchi, Kazuya, Ashitani, Keigo, Ohgo, Hideki, Yamaoka, Minoru, Ishizawa, Keisuke, Kayano, Hidekazu, Hisamatsu, Tadakazu, Umeno, Junji, Hosoe, Naoki, Matsumoto, Takayuki, Nakamoto, Hidetomo, Imaeda, Hiroyuki   +13 more
openaire   +2 more sources

Prostaglandin pathway gene expression in human placenta, amnion and choriodecidua is differentially affected by preterm and term labour and by uterine inflammation [PDF]

, 2014
BACKGROUND: Elucidation of the biochemical pathways involved in activation of preterm and term human labour would facilitate the development of effective management and inform judgements regarding the necessity for preterm tocolysis and post-term ...
Andrés López Bernal, Michel A Fortier, Robert J Phillips   +2 more
core   +1 more source

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy [PDF]

The American Journal of Human Genetics, 2012
By using whole-exome sequencing, we identified a homozygous guanine-to-adenine transition at the invariant -1 position of the acceptor site of intron 1 (c.97-1G>A) in solute carrier organic anion transporter family member 2A1 (SLCO2A1), which encodes a prostaglandin transporter protein, as the causative mutation in a single individual with primary ...
Zhang, Zhenlin, Xia, Weibo, He, Jinwei, Zhang, Zeng, Ke, Yaohua, Yue, Hua, Wang, Chun, Zhang, Hao, Gu, Jiemei, Hu, Weiwei, Fu, Wenzhen, Hu, Yunqiu, Li, Miao, Liu, Yujuan   +13 more
openaire   +2 more sources

Influence of Genetic Polymorphisms in Prostaglandin E2 Pathway (COX-2/HPGD/SLCO2A1/ABCC4) on the Risk for Colorectal Adenoma Development and Recurrence after Polypectomy [PDF]

, 2016
OBJECTIVES: Deregulation of prostaglandin E2 (PGE2) levels reported in colorectal carcinogenesis contributes to key steps of cancer development. Our aim was to evaluate the influence of the genetic variability in COX-2/HPGD/SLCO2A1/ABCC4 PGE2 pathway ...
Brandão, C., Dinis-Ribeiro, M., Galaghar, A., Marcos-Pinto, R., Medeiros, R., Pereira, C., Pimentel-Nunes, P., Queirós, S., Sousa, H.   +8 more
core   +1 more source

Comparative analysis of a BAC contig of porcine chromosome 13q31-q32 and human chromosome 3q21-q22 [PDF]

, 2005
International audienceBackground: The gene(s) encoding the ETEC F4ab/ac receptors, involved in neonatal diarrhoea in pigs (a disease not yet described in humans), is located close to the TF locus on Sscr13.
Van Poucke, Mario, Bourry, David, PIUMI, F, Mattheeuws, Marc, Van Zeveren, Alex, CHARDON, P, Peelman, Luc   +6 more
core   +4 more sources

Predictive clinical model of tumor response after chemoradiation in rectal cancer [PDF]

, 2017
Survival improvement in rectal cancer treated with neoadjuvant chemoradiotherapy (nCRT) is achieved only if pathological response occurs. Mandard tumor regression grade (TRG) proved to be a valid system to measure nCRT response.
Araujo, A., Castro-Poças, F., Lopes, C., Matos, E., Medeiros, R., Nogueira, C., Pereira, C., Rocha, A., Santos, M., Silva, C.   +9 more
core   +1 more source

A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

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, Yasuhisa Ohata, Makoto Fujiwara, Takuo Kubota, Yoko Miyoshi, Keiichi Ozono   +5 more
doaj   +1 more source

Transcriptional profiling of NCI/ADR-RES cells unveils a complex network of signaling pathways and molecular mechanisms of drug resistance [PDF]

, 2018
Ovarian cancer has the highest mortality rate among all the gynecological cancers. This is mostly due to the resistance of ovarian cancer to current chemotherapy regimens.
Benito i Mundet, Antoni, Castro Gallegos, Jessica, Ribó i Panosa, Marc, Vert Company, Anna, Vilanova i Brugués, Maria   +4 more
core   +2 more sources

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy

International Journal of Endocrinology, 2020
Purpose. Primary hypertrophic osteoarthropathy (PHO) is a rare, autosomal, recessive genetic disease characterized by digital clubbing, periostosis, and pachydermia.
Na Li, Yuhang Ma, Yun Jiang, Li You, Yunhong Huang, Yongde Peng, Xiaoying Ding, Li Zhao   +7 more
doaj   +1 more source

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for <i>SLCO2A1</i> variants. [PDF]

JBMR Plus
Abstract Background Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disease caused by pathogenic variants (PVs) in HPGD and SLCO2A1 genes whose phenotypes were, respectively, designated as PHOAR1 and PHOAR2.
Arcanjo AM, de Souza AF, de Souza Quedas EP, de Menezes Correia-Deur JE, Ferreira DL, de Almeida Toledo SP, Lourenço DM.   +6 more
europepmc   +3 more sources