Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory pathologies. We previously described deficiency of the prostaglandin-degrading...

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Autores:
Tipo de recurso:
Fecha de publicación:
2012
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/24227
Acceso en línea:
https://doi.org/10.1002/humu.22111
https://repository.urosario.edu.co/handle/10336/24227
Palabra clave:
15 hydroxyprostaglandin dehydrogenase
Carrier protein
Prostaglandin e receptor 1
Prostaglandin e receptor 2
Prostaglandin e receptor 3
Prostaglandin e receptor 4
Prostaglandin e2
Slco2a1 protein
Unclassified drug
Adolescent
Adult
Article
Child
Controlled study
Ethnicity
Exome
Gene deletion
Gene mutation
Gene rearrangement
Gene sequence
Genetic association
Human
Missense mutation
Myelofibrosis
Nonsense mutation
Nucleotide sequence
Osteoarthropathy
Pachydermoperiostosis
Population genetics
Priority journal
Prostaglandin metabolism
School child
Stop codon
Adolescent
Adult
Child
Female
Genetic predisposition to disease
Humans
Male
Mutation
Organic anion transporters
Primary myelofibrosis
Prostaglandins
Young adult
Genetics
Myelofibrosis
Osteoarthropathy
Prostaglandin
Slc02a1
primary hypertrophic
Osteoarthropathy
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License
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