Results 21 to 30 of about 1,479 (176)

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

open access: yesGut 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   +17 more
doaj   +3 more sources

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

open access: yesThe 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 ...
Yue, Hua   +13 more
core   +4 more sources

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

open access: yesPediatric 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   +7 more
doaj   +2 more sources

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

open access: yesBMC 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   +5 more
doaj   +2 more sources

Expression of the prostaglandin F synthase AKR1B1 and the prostaglandin transporter SLCO2A1 in human fetal membranes in relation to spontaneous term and preterm labour [PDF]

open access: yesFrontiers in Physiology, 2014
Background: Human labour is a complex series of cellular and molecular events that occur at the materno-fetal and uterine levels. Many hypotheses have been proposed for the initiation of human labour, one hypothesis suggests that maturation of the fetus ...
Hana A Alzamil   +3 more
doaj   +2 more sources

Biological and prognostic insights into the prostaglandin D2 signaling axis in lung adenocarcinoma [PDF]

open access: yesFrontiers in Pharmacology
BackgroundTumor metabolism reprogramming is a hallmark of cancer, but metabolite-mediated intercellular communication remains poorly understood. To address this gap, we estimated and explored communication events exploring based on single‐cell RNA data ...
Qiang Liu   +9 more
doaj   +2 more sources

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

open access: yesAmerican 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.
Puente Prieto, Jorge   +11 more
core   +6 more sources

Regulation of HPGD and SLCO2A1 in Colorectal Cancer Development [PDF]

open access: yes, 2018
A wide range of lipid mediators are synthesised from Polyunsaturated Fatty Acids. These mediators regulate inflammation and many other processes in the human body, and perturbation of their signalling can contribute to the survival and proliferation of ...
Papagrigoriou, Spyridon
core   +6 more sources

Author Correction: Structural basis for prostaglandin and drug transport via SLCO2A1 [PDF]

open access: yesNature Communications
Chitra Joshi   +10 more
doaj   +2 more sources

Immunohistochemical differentiation between chronic enteropathy associated with gene and other inflammatory bowel diseases [PDF]

open access: yesIntestinal Research, 2018
Background/AimsWe recently identified recessive mutations in the solute carrier organic anion transporter family member 2A1 gene (SLCO2A1) as causative variants of chronic enteropathy associated with SLCO2A1 (CEAS).
Satoko Yamaguchi   +9 more
doaj   +1 more source

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