Results 1 to 10 of about 1,942 (174)

A novel mutation in the SLCO2A1 gene, encoding a prostaglandin transporter, induces chronic enteropathy. [PDF]

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, Toshiaki Okuno, Ryuichi Ohgaki, Kou Nishikubo, Yuri Kitamura, Yumiko Sakurai, Lili Quan, Hiromichi Shoji, Yoshikatsu Kanai, Toshiaki Shimizu, Takehiko Yokomizo   +10 more
doaj   +7 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, Tadakazu Hisamatsu, Motohiro Esaki, Atsushi Hirano, Naoya Kubokura, Kouichi Asano, Shuji Kochi, Shunichi Yanai, Yuta Fuyuno, Katsuyoshi Shimamura, Naoki Hosoe, Haruhiko Ogata, Takashi Watanabe, Kunihiko Aoyagi, Hidehisa Ooi, Kenji Watanabe, Shigeyoshi Yasukawa, Fumihito Hirai, Toshiyuki Matsui, Mitsuo Iida, Tsuneyoshi Yao, Toshifumi Hibi, Kenjiro Kosaki, Takanori Kanai, Takanari Kitazono, Takayuki Matsumoto   +25 more
doaj   +7 more sources

Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn’s Disease [PDF]

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, Satoko Yamaguchi, Shotaro Nakamura, Keisuke Kawasaki, Yosuke Toya, Noriyuki Yamada, Makoto Eizuka, Noriyuki Uesugi, Junji Umeno, Motohiro Esaki, Eiko Okimoto, Shunji Ishihara, Tamotsu Sugai, Takayuki Matsumoto   +13 more
doaj   +5 more sources

Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study [PDF]

Gut and Liver, 2022
Background/Aims: Chronic enteropathy associated with SLCO2A1 gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the SLCO2A1 gene.
Hee Seung Hong, Jiwon Baek, Jae Chul Park, Ho-Su Lee, Dohoon Park, A-Ran Yoon, Soo Jung Park, Sung Noh Hong, Seong-Joon Koh, Chang Kyun Lee, Bo-In Lee, Sung Wook Hwang, Sang Hyoung Park, Seung-Jae Myung, Suk-Kyun Yang, Kyuyoung Song, Byong Duk Ye, on behalf of the IBD Research Group of the Korean Association for the Study of Intestinal Diseases   +17 more
doaj   +5 more sources

Correction: A novel mutation in the SLCO2A1 gene, encoding a prostaglandin transporter, induces chronic enteropathy. [PDF]

PLoS ONE, 2021
[This corrects the article DOI: 10.1371/journal.pone.0241869.].
Keisuke Jimbo, Toshiaki Okuno, Ryuichi Ohgaki, Kou Nishikubo, Yuri Kitamura, Yumiko Sakurai, Lili Quan, Hiromichi Shoji, Yoshikatsu Kanai, Toshiaki Shimizu, Takehiko Yokomizo   +10 more
doaj   +4 more sources

Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene [PDF]

Orphanet Journal of Rare Diseases
Background and aims Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chinese patients.
Qing Shang, Yimin Dai, Jingyi Huang, Wei Liu, Weixun Zhou, Yaping Liu, Hong Yang, Qiang Wang, Yue Li   +8 more
doaj   +4 more sources

Molecular cloning and characterization of the porcine prostaglandin transporter (SLCO2A1): evaluation of its role in F4 mediated neonatal diarrhoea [PDF]

BMC Genetics, 2009
Background Because prostaglandins are involved in many (patho)physiological processes, SLCO2A1 was already characterized in several species in an attempt to unravel specific processes/deficiencies.
Cox Eric, Van Zeveren Alex, Erkens Tim, Melkebeek Vesna, Van Poucke Mario, Peelman Luc J   +5 more
doaj   +5 more sources

Meta-Analysis-Assisted Detection of Gravity-Sensitive Genes in Human Vascular Endothelial Cells [PDF]

Frontiers in Cell and Developmental Biology, 2021
Gravity affects the function and maintenance of organs, such as bones, muscles, and the heart. Several studies have used DNA microarrays to identify genes with altered expressions in response to gravity.
Yin Liang, Mengxue Wang, Yun Liu, Chen Wang, Ken Takahashi, Keiji Naruse   +5 more
doaj   +4 more sources

An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids [PDF]

Frontiers in Genetics, 2019
Background: Associations of both common and rare genetic variants with fasting blood lipids have been extensively studied. However, most of the rare coding variants associated with lipids are population-specific, and exploration of genetic data from ...
Xin Geng, Xin Geng, Marguerite R. Irvin, Bertha Hidalgo, Stella Aslibekyan, Vinodh Srinivasasainagendra, Ping An, Alexis C. Frazier-Wood, Hemant K. Tiwari, Tushar Dave, Kathleen Ryan, Jose M. Ordovas, Jose M. Ordovas, Jose M. Ordovas, Robert J. Straka, Mary F. Feitosa, Paul N. Hopkins, Ingrid Borecki, Michael A. Province, Braxton D. Mitchell, Donna K. Arnett, Degui Zhi, Degui Zhi   +22 more
doaj   +3 more sources

A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: a case report [PDF]

BMC Pediatrics
Background The SLCO2A1 gene encodes a prostaglandin transporter and we report a novel mutation causing hypoproteinaemia and refractory anaemia due to chronic enteropathy. Case presentation An 18-year-old boy of consanguineous parents was investigated for
Sachith Mettananda, PKBUC Bandara, Manissha Rajeindran, Padmapani Padeniya   +3 more
doaj   +2 more sources