Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy
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The Prostaglandin Transporter: Eicosanoid Reuptake, Control of Signaling, and Development of High-Affinity Inhibitors as Drug CandidatesA Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin TransporterIdentification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.Pachydermoperiostosis: a rare mimicker of acromegaly.Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.Inhibition of the Prostaglandin Transporter PGT Lowers Blood Pressure in Hypertensive Rats and MiceIdentification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.Pathological characterization of pachydermia in pachydermoperiostosis.Influence of Genetic Polymorphisms in Prostaglandin E2 Pathway (COX-2/HPGD/SLCO2A1/ABCC4) on the Risk for Colorectal Adenoma Development and Recurrence after Polypectomy.Primary hypertrophic osteoarthropathy: an update.Eyelid thickening and ptosis associated with pachydermoperiostosis: a case report and review of literature.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Exome sequencing greatly expedites the progressive research of Mendelian diseases.The role of organic anion transporting polypeptides in drug absorption, distribution, excretion and drug-drug interactions.Chronic enteropathy associated with SLCO2A1 gene (CEAS) - Characterization of an enteric disorder to be considered in the differential diagnosis of Crohn's disease.A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis.Screening of candidate genes in fibroblasts derived from patients with Dupuytren's contracture using bioinformatics analysis.Regulation of prostaglandin EP1 and EP4 receptor signaling by carrier-mediated ligand reuptake.Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly.Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.[Bronchial carcinoma and knee pain. Secondary hypertrophic osteoarthropathy].A novel role for OATP2A1/SLCO2A1 in a murine model of colon cancer.Infiltration of mast cells in pachydermia of pachydermoperiostosis.The organic anion transporter SLCO2A1 constitutes the core component of the Maxi-Cl channel.Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.Coexistence of hypertrophic osteoarthropathy and myelofibrosis.Defective SLCO2A1 does not transport PGT substrates from extracellular region to cytosolNovel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention.The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.Complete type of pachydermoperiostosis with a novel mutation c.510G>A of the SLCO2A1 gene.Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.Pachydermoperiostosis Masquerading as Acromegaly.Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in KoreaA male Korean who was diagnosed with chronic enteropathy associated with (CEAS): case report with literature review
P2860
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P2860
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@ast
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@en
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@nl
type
label
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@ast
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@en
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@nl
prefLabel
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@ast
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@en
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@nl
P2093
P2860
P1476
Exome sequencing identifies SL ...... hypertrophic osteoarthropathy
@en
P2093
Wenzhen Fu
P2860
P304
P356
10.1016/J.AJHG.2011.11.019
P407
P577
2011-12-22T00:00:00Z