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dc.contributor.authorO'Riordan, J M
dc.contributor.authorO'Donoghue, D
dc.contributor.authorGreen, A
dc.contributor.authorKeegan, D
dc.contributor.authorHawkes, L A
dc.contributor.authorPayne, S J
dc.contributor.authorSheahan, K
dc.contributor.authorWinter, D C
dc.date.accessioned2012-04-04T11:29:11Z
dc.date.available2012-04-04T11:29:11Z
dc.date.issued2010-06
dc.identifier.citationHereditary mixed polyposis syndrome due to a BMPR1A mutation. 2010, 12 (6):570-3 Colorectal Dis
dc.identifier.issn1463-1318
dc.identifier.pmid19438883
dc.identifier.doi10.1111/j.1463-1318.2009.01931.x
dc.identifier.urihttp://hdl.handle.net/10147/217662
dc.description.abstractThe conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.
dc.language.isoen
dc.rightsArchived with thanks to Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Irelanden_GB
dc.subject.meshAdenomatous Polyposis Coli
dc.subject.meshAdult
dc.subject.meshBone Morphogenetic Protein Receptors, Type I
dc.subject.meshColonic Polyps
dc.subject.meshColorectal Neoplasms
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshPedigree
dc.subject.meshSignal Transduction
dc.subject.meshSmad4 Protein
dc.subject.meshSyndrome
dc.subject.meshTransforming Growth Factor beta
dc.titleHereditary mixed polyposis syndrome due to a BMPR1A mutation.en_GB
dc.contributor.departmentThe Centre for Colorectal Disease, St Vincents' University Hospital, Elm Park, Dublin, Ireland. jamoriordan@rcsi.ie
dc.identifier.journalColorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
dc.type.qualificationlevelN/Aen
cr.approval.ethicalN/Aen
dc.description.provinceLeinsteren
dc.description.provinceLeinster
html.description.abstractThe conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.


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