Results 11 to 20 of about 2,514,688 (144)

Chronic Enteropathy Associated with <italic>SLCO2A1</italic> Gene

Inflammatory Intestinal Diseases
Background: Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare hereditary disorder characterized by multiple small intestinal ulcers, chronic anemia, and hypoproteinemia. Initially reported by Okabe et al.
Junji Umeno, Motohiro Esaki, Keiichi Uchida, Takayuki Matsumoto   +3 more
doaj   +3 more sources

Structure and transport mechanism of the human prostaglandin transporter SLCO2A1

Nature Communications
SLCO2A1 is a member of the organic anion transporting polypeptide (OATP) family, which preferentially transports prostaglandins (PGs) into cells and plays a vital role in regulating PGs inactivation and distribution.
Zhanyi Xia, Guangyuan Lu, Di Wu, Jun Zhao, Bowen Zhang, Haoran Xu, Yingying Du, Daohua Jiang   +7 more
doaj   +2 more sources

Identification of the Mutations in the Prostaglandin Transporter Gene,SLCO2A1and Clinical Characterization in Korean Patients with Pachydermoperiostosis [PDF]

Journal of Korean Medical Science, 2016
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member
Sihoon Lee, So Young Park, Hyun Jin Kwon, Chul-Ho Lee, Ok-Hwa Kim, Yumie Rhee   +5 more
openaire   +4 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

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

Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing

Pediatric Rheumatology Online Journal, 2023
Background Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute ...
Rafaela Nicolau, Tiago Beirão, Francisca Guimarães, Francisca Aguiar, Sara Ganhão, Mariana Rodrigues, Ana Grangeia, Iva Brito   +7 more
doaj   +2 more sources

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

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   +3 more sources

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment

American Journal of Medical Genetics Part A, 2018
Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition.
Alessandrella, Annalisa, Della Casa, Roberto, Alessio, Maria, Puente Prieto, Jorge, Strisciuglio, Pietro, Melis, Daniela   +5 more
core   +6 more sources

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

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   +3 more sources

A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy

Orphanet Journal of Rare Diseases
Background Chronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1, which encodes the prostaglandin transporter (PGT). CEAS follows an autosomal recessive inheritance pattern.
Yimin Dai, Miao He, Hui Xu, Bei Tan, Weixun Zhou, Wei Liu, Qiang Wang, Jingyi Huang, Qing Shang, Yaping Liu, Yue Li   +10 more
doaj   +3 more sources

Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease

BMC Pediatrics
Background  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, Jae Sung Ko, Jung Min Ko, Hyun Young Kim, Man Jin Kim, Moon Woo Seong, Young Hun Choi, Gyeong Hoon Kang, Jaemoon Koh, Jin Soo Moon   +9 more
doaj   +2 more sources